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601 | at bolstering attention and EF also include interventions that address the specific deficits associ ated with any comorbid diagnoses. In addition to behavioral approaches, cognitive training, both com puterized and noncomputerized, has been shown to strengthen the cognitive skills on which one is trained. Some computerized training Downloaded for mohamed ahmed (dr.mms2020gmail.com) at University of Southern California from ClinicalKey.com by Elsevier on April 20, 2024. For personal use only. No other uses without permission. Copyright 2024. Elsevier Inc. All rights reserved. 308 Part IV u Learning and Developmental Disorders programs show lasting improvements in WM skills in children, though benefits are narrow and limited only to the aspects of WM specifi cally trained. Recently, game based digital therapy has been shown to improve attention in children with ADHD inattentive type and com bined type. Noncomputerized cognitive training has shown greater improvements in EF than any type of computerized cognitive training. This may be the result of instructor trainee interaction. Also evidenc ing positive outcomes are curriculum based classroom programs, such as the Tools of the Mind (Tools) and Promoting Alternative Think ing Strategies (PATHS), which have been shown to improve IC. Emerging evidence suggests physical activity can improve EF. Chil dren who are more physically active and have better aerobic fitness have been shown to have better EF than children who are sedentary. Although plain aerobic exercise (e.g., walking, running) has not been found to improve EF, encouraging findings have been noted when an activity involves aerobic exercise and is also cognitively demanding. Basketball and dance, for example, are high in physical exertion while also requiring cognitive engagement through motor coordination and planning. In contrast, resistance training has not been shown to improve EF. Approaches that use mindfulness techniques are also gaining prom inence. Mindfulness practices incorporating movement (e.g., tai chi) improve EF better than those performed in a seated position. Martial arts such as taekwondo, which stresses discipline and self regulation, have demonstrated improvements that generalize in many aspects of EFs and attention (e.g., sustained focus). COUNSELING AND PARENT TRAINING PROGRAMS The pediatrician is often in a close, trusting relationship with fami lies and is well positioned to identify adverse home factors that may require additional supports, including counseling and parent training. When academic difficulties are complicated by family problems or identifiable psychiatric disorders, psychotherapy may be indicated. Mental health professionals may offer long term or short term ther apy. Such intervention may involve the child alone or the entire fam ily. Cognitive behavioral therapy is especially effective for mood and anxiety disorders. It is essential that the therapist have a firm under standing of the nature of a childs neurodevelopmental dysfunctions. Formal parenting interventions have also demonstrated strong evi dence for effectiveness. Four programs that have the most empirical support are the Triple P, Parent Child Interaction Therapy (PCIT), Incredible Years, and New Forest Parenting Programme. Table 49.3 outlines interventions to target the specific components of EF. Although interventions may target each component separately, success will be determined |
602 | by how well treatments can be integrated across settings and generalized to other areas of function. Whenever possible, working with more than one EF simultaneously is encour aged as a means of scaffolding intervention and building on previously mastered skills. Medication Psychopharmacologic agents may be helpful in lessening the toll of some neurodevelopmental dysfunctions. Most often, stimulants are used in the treatment of children with attention deficits. Although most children with attention deficits have other associated dysfunc tions, such as language disorders, memory problems, motor weak nesses, or social skill deficits, medications such as methylphenidate, dextroamphetamine, lisdexamfetamine, and mixed amphetamine salts, as well as nonstimulants such as 2 adrenergic agonists and atomox etine, can be important adjuncts to treatment by helping some children focus more selectively and control their impulsivity. When depression or excessive anxiety is a significant component of the clinical picture, Table 49.3 Executive Function Categories: Presenting Symptoms, Suggested Dysfunction, and Potential Interventions SYMPTOMPRESENTING COMPLAINT SUSPECTED AREA OF DYSFUNCTION POSSIBLE REAL WORLD INTERVENTIONS Acts before thinking Interrupts Poor behavioral andor emotional control Inhibitory control Increase structure in environment to set limits for inhibition problems. Make behavior and work expectations clear and explicit; review with child. Post rules in view; point to them when child breaks rule. Teach response delay techniques (e.g., counting to 10 before acting). Cannot follow multistep instructions Forgetful Working memory Repeat instructions as needed. Keep instructions clear and concise. Provide concrete references. Struggles starting assignments tasks Lacks initiativemotivation Has trouble developing ideas strategies Initiation Increase structure of tasks. Establish and rely on routine. Break tasks into smaller, manageable steps. Place child with partner or group for modeling and cueing from peers. Does not plan ahead Uses trial and error approach Planning Practice with tasks with only a few steps first. Teach simple flow charting as a planning tool. Practice with planning tasks (e.g., mazes). Ask child to verbalize plan before beginning work. Ask child to verbalize second plan if first does not work. Ask child to verbalize possible consequences of actions before beginning. Review incidents of poor planninganticipation with child. Workbelongings isare messy Randomhaphazard problem solving Procrastinatesdoes not complete tasks Organization Increase organization of classroom and activities to serve as model, and help child grasp structure of new information. Present framework of new information to be learned at the outset, and review again at the end of a lesson. Begin with tasks with only a few steps and increase gradually. Gets stuck Trouble transitioning Does not adapt to change Flexibilityshifting Increase routine to the day. Make schedule clear and public. Forewarn of any changes in schedule. Give 2 minute warning of time to change. Make changes from one task to the next or one topic to the next, clear and explicit. Shifting may be a problem of inhibiting, so apply strategies for inhibition problems. Downloaded for mohamed ahmed (dr.mms2020gmail.com) at University of Southern California from ClinicalKey.com by Elsevier on April 20, 2024. For personal use only. No other uses without permission. Copyright 2024. Elsevier Inc. |
603 | All rights reserved. Chapter 50 u Attention Deficit Hyperactivity Disorder 309 antidepressants or anxiolytics may be helpful. Other medications may improve behavioral control (see Chapter 33). Children receiving medication need regular follow up visits that include a history to check for side effects, a review of current behavioral checklists, a complete physical examination, and appropriate modifications of the medica tion dose. Periodic trials off medication are recommended to establish whether the medication is still necessary. Nonstandard Therapies Pediatricians should be aware of nonstandard therapies that purport to treat neurodevelopmental and executive dysfunction or components therein. A variety of treatment methods for neurodevelopmental dys functions have been proposed that currently have little to no known scientific evidence of efficacy. This list includes dietary interventions (vitamins, elimination of food additives or potential allergens), neuro motor programs or medications to address vestibular dysfunction, eye exercises, filters, tinted lenses, and various technologic devices. Parents should be cautioned against expending the excessive amounts of time and financial resources usually demanded by these remedies. In many cases, it is difficult to distinguish the nonspecific beneficial effects of increased support and attention paid to the child from the purported target effects of the interventions. Visit Elsevier eBooks at eBooks.Health.Elsevier.com for Bibliography. Attention deficithyperactivity disorder (ADHD) is one of the most common and extensively studied neurobehavioral disorders of child hood and is among the most prevalent chronic health conditions affecting school age children. ADHD is characterized by inattention, including increased distractibility and difficulty sustaining attention; poor impulse control and decreased self inhibitory capacity; and motor overactivity and restlessness (Table 50.1, Fig. 50.1). Defini tions vary in different countries. In the International Classification of Diseases (ICD) 2022 update from ICD 10 to ICD 11, hyperkinetic disorder was replaced with ADHD, which aligns with Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM 5) termi nology. Under ICD 11, the essential features of ADHD are described, but without giving age of onset, duration, or minimum number of symptoms needed for the diagnosis as specified in DSM 5 (Table 50.2). Children with ADHD may experience academic underachieve ment, problems with interpersonal relationships with family mem bers and peers, and low self esteem. ADHD often coexists with other emotional, behavioral, language, and learning disorders. Evidence also suggests that for many people, the disorder continues, with vary ing manifestations across the life cycle, leading to significant under employment and unemployment, social dysfunction, and increased risk of antisocial behaviors (e.g., substance abuse), difficulty main taining relationships, encounters with the law, and death from suicide or accidents (Figs. 50.2 and 50.3). Chapter 50 Attention Deficit Hyperactivity Disorder Elizabeth B. Harstad EPIDEMIOLOGY Studies of the prevalence of ADHD worldwide have generally reported that 510 of school age children are affected, although rates vary considerably by country, perhaps in part because of differing sampling and testing techniques and a varying symptom threshold for diagnosis. ADHD is more common in males than in females (male to female ratio 4:1 for the predominantly hyperactive impulsive presentation and 2:1 |
604 | for the predominantly inattentive presentation). Many children with ADHD will have coexisting diagnoses, including learning disabilities, mood disorders, andor language disorders. Children with high intel lectual quotient (IQ) are just as likely to have ADHD as those with average IQ, but children with below average IQ have increased risk of having coexisting ADHD. ETIOLOGY There is no single etiology identified for ADHD; many factors play a role in its development. A genetic contribution to the etiology of ADHD is well established. Twin studies show 7080 heritability, and there is a 5 to 10 fold increased risk for ADHD among first degree relatives of those with ADHD. However, there are many ways in which genetic variants contribute to ADHD; it is thought that ADHD is a polygenic disorder in which multiple common genetic variants act together to increase the risk for ADHD. Structural and functional abnormalities of the brain have been iden tified in children with ADHD. These include dysregulation of the fron tal subcortical circuits; small cortical volumes in this region or more widespread throughout the brain; and abnormalities of the cerebellum, particularly midlinevermian elements. There is a median of a 3 year delay in attainment of peak cortical thickness in prefrontal regions of the brain in those with ADHD. Although neuroimaging stud ies have advanced knowledge related to ADHD, neuroimaging does not typically have a role in the clinical diagnosis or inform ongoing management. Brain catecholamine metabolism, specifically for dopamine and nor epinephrine, appears to play a role in the pathophysiology of ADHD. Animal studies suggest that an imbalance between these systems (specifically a decrease in inhibitory dopamine activity and increase in norepinephrine activity) contributes to ADHD. These findings are supported by human studies showing that individuals with ADHD have an increase in dopamine transporter density (which clears away dopamine too quickly) compared to non ADHD controls. Addition ally, studies showing that stimulant medications work to treat ADHD by increasing the amount of available dopamine and norepinephrine at the synapse support a role for catecholamine metabolism in the etiol ogy of ADHD. Some environmental factors also may contribute to the patho genesis of ADHD. Prenatal exposure to tobacco smoke or alcohol is associated with increased risk for ADHD. Prematurity, including even late preterm birth, is also associated with increased risk for ADHD. Maternal mental illness increases the risk for ADHD in offspring, and research indicates underlying maternal mental illness itself, rather than treatment of the mental illness, is the associated risk factor. Diet is not thought to play a role in the pathogenesis of ADHD for most children with the condition. A small subset of children with ADHD may be uniquely sensitive to certain foods, sugars, or additives, but this remains controversial, as studies reporting these findings are typically small and often not rigorously designed. CLINICAL MANIFESTATIONS Development of the DSM 5 criteria for ADHD has occurred mainly in field trials with children 5 12 years of age (see Table 50.1). The DSM 5 criteria state that the inattentive |
605 | or hyperactive impulsive behav iors must be developmentally inappropriate (substantially different from that of other children of the same age and developmental level), must begin before age 12 years, must be present for at least 6 months, must be present in two or more settings, and must not be secondary to another disorder. To meet criteria for ADHD, the symptoms must interfere with social, academic, or occupational functioning. Downloaded for mohamed ahmed (dr.mms2020gmail.com) at University of Southern California from ClinicalKey.com by Elsevier on April 20, 2024. For personal use only. No other uses without permission. Copyright 2024. Elsevier Inc. All rights reserved. Chapter 50 u Attention Deficit Hyperactivity Disorder 309 antidepressants or anxiolytics may be helpful. Other medications may improve behavioral control (see Chapter 33). Children receiving medication need regular follow up visits that include a history to check for side effects, a review of current behavioral checklists, a complete physical examination, and appropriate modifications of the medica tion dose. Periodic trials off medication are recommended to establish whether the medication is still necessary. Nonstandard Therapies Pediatricians should be aware of nonstandard therapies that purport to treat neurodevelopmental and executive dysfunction or components therein. A variety of treatment methods for neurodevelopmental dys functions have been proposed that currently have little to no known scientific evidence of efficacy. This list includes dietary interventions (vitamins, elimination of food additives or potential allergens), neuro motor programs or medications to address vestibular dysfunction, eye exercises, filters, tinted lenses, and various technologic devices. Parents should be cautioned against expending the excessive amounts of time and financial resources usually demanded by these remedies. In many cases, it is difficult to distinguish the nonspecific beneficial effects of increased support and attention paid to the child from the purported target effects of the interventions. Visit Elsevier eBooks at eBooks.Health.Elsevier.com for Bibliography. Attention deficithyperactivity disorder (ADHD) is one of the most common and extensively studied neurobehavioral disorders of child hood and is among the most prevalent chronic health conditions affecting school age children. ADHD is characterized by inattention, including increased distractibility and difficulty sustaining attention; poor impulse control and decreased self inhibitory capacity; and motor overactivity and restlessness (Table 50.1, Fig. 50.1). Defini tions vary in different countries. In the International Classification of Diseases (ICD) 2022 update from ICD 10 to ICD 11, hyperkinetic disorder was replaced with ADHD, which aligns with Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM 5) termi nology. Under ICD 11, the essential features of ADHD are described, but without giving age of onset, duration, or minimum number of symptoms needed for the diagnosis as specified in DSM 5 (Table 50.2). Children with ADHD may experience academic underachieve ment, problems with interpersonal relationships with family mem bers and peers, and low self esteem. ADHD often coexists with other emotional, behavioral, language, and learning disorders. Evidence also suggests that for many people, the disorder continues, with vary ing manifestations across the life cycle, leading to significant under employment and unemployment, social dysfunction, and |
606 | increased risk of antisocial behaviors (e.g., substance abuse), difficulty main taining relationships, encounters with the law, and death from suicide or accidents (Figs. 50.2 and 50.3). Chapter 50 Attention Deficit Hyperactivity Disorder Elizabeth B. Harstad EPIDEMIOLOGY Studies of the prevalence of ADHD worldwide have generally reported that 510 of school age children are affected, although rates vary considerably by country, perhaps in part because of differing sampling and testing techniques and a varying symptom threshold for diagnosis. ADHD is more common in males than in females (male to female ratio 4:1 for the predominantly hyperactive impulsive presentation and 2:1 for the predominantly inattentive presentation). Many children with ADHD will have coexisting diagnoses, including learning disabilities, mood disorders, andor language disorders. Children with high intel lectual quotient (IQ) are just as likely to have ADHD as those with average IQ, but children with below average IQ have increased risk of having coexisting ADHD. ETIOLOGY There is no single etiology identified for ADHD; many factors play a role in its development. A genetic contribution to the etiology of ADHD is well established. Twin studies show 7080 heritability, and there is a 5 to 10 fold increased risk for ADHD among first degree relatives of those with ADHD. However, there are many ways in which genetic variants contribute to ADHD; it is thought that ADHD is a polygenic disorder in which multiple common genetic variants act together to increase the risk for ADHD. Structural and functional abnormalities of the brain have been iden tified in children with ADHD. These include dysregulation of the fron tal subcortical circuits; small cortical volumes in this region or more widespread throughout the brain; and abnormalities of the cerebellum, particularly midlinevermian elements. There is a median of a 3 year delay in attainment of peak cortical thickness in prefrontal regions of the brain in those with ADHD. Although neuroimaging stud ies have advanced knowledge related to ADHD, neuroimaging does not typically have a role in the clinical diagnosis or inform ongoing management. Brain catecholamine metabolism, specifically for dopamine and nor epinephrine, appears to play a role in the pathophysiology of ADHD. Animal studies suggest that an imbalance between these systems (specifically a decrease in inhibitory dopamine activity and increase in norepinephrine activity) contributes to ADHD. These findings are supported by human studies showing that individuals with ADHD have an increase in dopamine transporter density (which clears away dopamine too quickly) compared to non ADHD controls. Addition ally, studies showing that stimulant medications work to treat ADHD by increasing the amount of available dopamine and norepinephrine at the synapse support a role for catecholamine metabolism in the etiol ogy of ADHD. Some environmental factors also may contribute to the patho genesis of ADHD. Prenatal exposure to tobacco smoke or alcohol is associated with increased risk for ADHD. Prematurity, including even late preterm birth, is also associated with increased risk for ADHD. Maternal mental illness increases the risk for ADHD in offspring, and research indicates underlying maternal mental illness itself, |
607 | rather than treatment of the mental illness, is the associated risk factor. Diet is not thought to play a role in the pathogenesis of ADHD for most children with the condition. A small subset of children with ADHD may be uniquely sensitive to certain foods, sugars, or additives, but this remains controversial, as studies reporting these findings are typically small and often not rigorously designed. CLINICAL MANIFESTATIONS Development of the DSM 5 criteria for ADHD has occurred mainly in field trials with children 5 12 years of age (see Table 50.1). The DSM 5 criteria state that the inattentive or hyperactive impulsive behav iors must be developmentally inappropriate (substantially different from that of other children of the same age and developmental level), must begin before age 12 years, must be present for at least 6 months, must be present in two or more settings, and must not be secondary to another disorder. To meet criteria for ADHD, the symptoms must interfere with social, academic, or occupational functioning. Downloaded for mohamed ahmed (dr.mms2020gmail.com) at University of Southern California from ClinicalKey.com by Elsevier on April 20, 2024. For personal use only. No other uses without permission. Copyright 2024. Elsevier Inc. All rights reserved. 310 Part IV u Learning and Developmental Disorders Table 50.1 DSM 5 Diagnostic Criteria for ADHD A. A persistent pattern of inattention andor hyperactivityimpulsivity that interferes with functioning or development, as characterized by (1) andor (2): 1. Inattention: Six (or more) of the following symptoms of inattention have persisted for 6 mo to a degree that is inconsistent with development level and that negatively affects directly on social and academicoccupational activities: a. Often fails to give close attention to details or makes careless mistakes in schoolwork, at work, or during other activities (e.g., overlooks or misses details, work is inaccurate). b. Often has difficulty sustaining attention in tasks or play activities. c. Often does not seem to listen when spoken to directly. d. Often does not follow through on instructions and fails to finish schoolwork, chores, or duties in the workplace (not the result of oppositional behavior or failure to understand instructions). e. Often has difficulty organizing tasks and activities. f. Often avoids, dislikes, or is reluctant to engage in tasks that require sustained mental effort (e.g., schoolwork, homework). g. Often loses things necessary for tasks or activities (e.g., toys, school assignments, pencils, books, tools). h. Is often easily distracted by extraneous stimuli. i. Is often forgetful in daily activities. 2. Hyperactivityimpulsivity: Six (or more) of the following symptoms of inattention have persisted for 6 mo to a degree that is inconsistent with development level and that negatively affects directly on social and academicoccupational activities. a. Often fidgets with hands or feet or squirms in seat. b. Often leaves seat in classroom or in other situations in which remaining seated is expected. c. Often runs about or climbs excessively in situations in which it is inappropriate (in adolescents or adults, may be limited to subjective feelings of restlessness). d. |
608 | Often has difficulty playing or engaging in leisure activities quietly. e. Is often on the go or often acts as if driven by a motor. f. Often talks excessively. Impulsivity. g. Often blurts out answers before questions have been completed. h. Often has difficulty awaiting turn. i. Often interrupts or intrudes on others (e.g., butts into conversations or games). B. Several inattentive or hyperactiveimpulsive symptoms were present before 12 yr of age. C. Several inattentive or hyperactiveimpulsive symptoms are present in two or more settings (e.g., at school or work or at home) and are documented independently. D. There is clear evidence of clinically significant impairment in social, academic, or occupational functioning. E. Symptoms do not occur exclusively during the course of schizophrenia, or another psychotic disorder, and are not better accounted for by another mental disorder (e.g., mood disorder, anxiety disorder, dissociative disorder, personality disorder, substance intoxication or withdrawal). CODE BASED ON TYPE 314.01 Attention deficithyperactivity disorder, combined presentation: if both Criteria A1 and A2 are met for the past 6 mo. 314.00 Attention deficithyperactivity disorder, predominantly inattentive presentation: if Criterion A1 is met but Criterion A2 is not met for the past 6 mo. 314.01 Attention deficithyperactivity disorder, predominantly hyperactive impulsive presentation: if Criterion A2 is met but Criterion A1 is not met for the past 6 mo. Specify if: Mild: Few, if any, symptoms in excess of those required to make the diagnosis are present, and if the symptoms result in no more than minor impairments in social and occupational functioning. Moderate: Symptoms or functional impairment between mild and severe are present. Severe: Many symptoms in excess of those required to make the diagnosis, or several symptoms that are particularly severe, are present, or the symptoms result in marked impairment in social or occupational functioning. From American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders, 4th ed, Text Revision, Washington, DC: American Psychiatric Association; 2000, and Fifth Edition (Copyright 2013 American Psychiatric Association.) Poor concentration Hyperactivity Impulsivity Difficulties with school work Struggle to be organized Constantly on the go Less aware of danger Strained family and peer relationships Questions to ask Is school attainment below what is expected? Do instructions often need to be repeated? Do they: Lose things? Forget what they were doing? Struggle to get ready for school? Struggle to complete tasks? Do they: Run about excessively? Struggle to sit still during a favorite movie or meal, or in the classroom? Do they: Need high levels of adult supervision? Have little road safety awareness? Experience many trivial unintentional incidents? Difficulty maintaining peer relationships? Strained parentchild relationships? Are they bullied or do they bully others? Easily led and influenced to engage in thoughtless acts, occasionally leading to police involvement? Fig. 50.1 How to assess children for attention deficithyperactivity disorder. (From Verkuijl N, Perkins M, Fazel M. Childhood attention deficit hyperactivity disorder. BMJ. 2015;350:h2168, Fig. 2, p. 146.) Downloaded for mohamed ahmed (dr.mms2020gmail.com) at University of Southern California from ClinicalKey.com by Elsevier on April 20, 2024. |
609 | For personal use only. No other uses without permission. Copyright 2024. Elsevier Inc. All rights reserved. Chapter 50 u Attention Deficit Hyperactivity Disorder 311 DSM 5 identifies three presentations of ADHD: the inattentive pre sentation, hyperactive impulsive presentation, and combined presen tation. Clinical manifestations of ADHD may change with age; thus the specific ADHD presentation for an individual may not be stable over time but describes current symptomatology (see Fig. 50.2). The symp toms may vary from motor restlessness and aggressive and disruptive behavior, which are common in preschool children, to disorganized, distractible, and inattentive symptoms, which are more typical in older adolescents and adults. Although hyperactivity generally decreases in late childhood and adolescence, symptoms of impulsivity and inatten tion often persist. Females with ADHD are relatively more likely than males to be diagnosed with the inattentive presentation, and this pre sentation is more commonly associated with internalizing symptoms (anxiety and low mood). DIAGNOSIS An evaluation for ADHD should be initiated in any child 4 years of age with symptoms of inattention, hyperactivity, andor impul sivity (Fig. 50.4). This evaluation includes a careful history and clinical interview to rule in ADHD or to identify other causes or contributing factors, completion of behavior rating scales by differ ent observers from at least two settings (e.g., teacher and parent), and a physical examination. It is important to systematically gather and evaluate information from a variety of sources, including the child, parents, teachers, and, when appropriate, other caretakers or professionals involved in the childs care. The evaluation for ADHD may require several office visits. A thor ough assessment should be conducted at the time of initial diagnosis, and reevaluation should occur if there are worsening or new symp toms, given the common occurrence of coexisting conditions. Clinical Interview and History The clinical interview allows a comprehensive understanding of whether the symptoms meet the diagnostic criteria for ADHD and to assess for coexisting conditions. The interview should collect infor mation about the history and duration of presenting problems, the childs attainment of developmental milestones, school performance, social skills, mood, sleep, medical illnesses, sensory impairments, or Table 50.2 Differences Between U.S. and European Criteria for ADHD or HKD DSM 5 ADHD ICD 10 HKD ICD 11 ADHD SYMPTOMS Either or both of the following: At least 6 of 9 inattentive symptoms At least 6 of 9 hyperactive or impulsive symptoms All of the following: At least 6 of 8 inattentive symptoms At least 3 of 5 hyperactive symptoms At least 1 of 4 impulsive symptoms No minimum numbers of symptoms but must have: Persistent pattern (6 mo) of inattention andor hyperactivity impulsivity that has a direct negative impact on academic, occupational, or social functioning PERVASIVENESS Some impairment from symptoms is present in one or more settings Criteria are met for one or more settings Symptoms must be evident across multiple situations or settings but are likely to vary according to the structure and demands of the setting ICD 11 went into effect on January 1, |
610 | 2022. ADHD, Attention deficithyperactivity disorder; HKD, hyperkinetic disorder; DSM 5, Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition; ICD 10, International Classification of Diseases, Tenth Edition. Modified from Biederman J, Faraone S. Attention deficit hyperactivity disorder. Lancet. 2005;366:237248. Preschool Behavioral disturbance Unintentional injuries Feelings of parental incompetence School age Behavioral disturbance, including aggressive tendencies Academic impairment Difficulties in social interaction often tolerated by peers Adolescence Not fulfilling academic potential Reduced tolerance by peers Low selfesteem Smokingalcohol drug experimentation Antisocial behavior College age Academic failure Not coping with routine tasks Occupational difficulties Low selfesteem Alcohol and substance misuse Injuries unintentional incidents Adulthood Mood instability Low selfesteem Relationship problems Increased road and occupational incidents Difficulty planning and completing tasks Alcohol and substance misuse Inconsistent parenting style Fig. 50.2 Possible developmental impacts of attention deficithyperactivity disorder. (From Verkuijl N, Perkins M, Fazel M. Childhood attention deficithyperactivity disorder. BMJ. 2015;350:h2168, Fig. 1, p. 145.) Downloaded for mohamed ahmed (dr.mms2020gmail.com) at University of Southern California from ClinicalKey.com by Elsevier on April 20, 2024. For personal use only. No other uses without permission. Copyright 2024. Elsevier Inc. All rights reserved. 312 Part IV u Learning and Developmental Disorders medication use that might affect the childs functioning. Disruptive social factors, such as family discord, situational stress, and abuse or neglect, can result in hyperactive or anxious behaviors. A family his tory of first degree relatives with ADHD, mood or anxiety disorders, learning disability, antisocial disorder, or alcohol or substance abuse might indicate an increased risk of ADHD and coexisting conditions. Behavior Rating Scales Behavior rating scales can help to elicit information about ADHD symptoms across contexts (i.e., home and school). The Vanderbilt ADHD Rating Scale (which has parent and teacher versions) is a commonly used screening measure for ADHD in primary care. It has specific questions about inattention and hyperactivityimpul sivity that correspond directly with the DSM 5 ADHD diagnostic criteria and questions about overall performance to assess for func tional impairment, as well as subscales for some common coexisting conditions (anxietydepression and oppositional behaviorsconduct disorder). Additional ADHD specific rating scales include the Con ners 3 ADHD Index and ADHD Rating Scale 5, among others that can be used. Broadband rating scales (such as Achenbach Child Behavior Checklist CBCL or Behavioral Assessment Scale for Children BASC or Conners 3 Full Length Forms) can be useful in assessing for coex isting conditions. Electronic capture of rating scale information is increasingly available and may facilitate completion and scoring. Rat ing scales provide information about the type, frequency, and severity of ADHD or other behavioralmood symptoms, but interpretation requires clinical judgement. Contextual factors (such as triggers for a certain behavior, responses to a behavior that may inadvertently rein force it) should be considered when interpreting rating scales. When there are discrepancies between results of rating scales for parents and teachers, the context and level of support provided in each setting should be assessed. ADHD rating scales can help with both the initial diagnostic assessment and with monitoring treatment response |
611 | over time. Although there is no universal standard to use as a criterion for a positive response to treatment in terms of rating scale results, a decrease in ADHD symptom scores by 25 or more is generally considered significant improvement. However, improvement in func tional outcomes may be more important to consider than changes in symptom scores. For children on medication, it is important to con sider if the medication was active when the child was observed (i.e., stimulant medication may work to reduce ADHD symptoms during the school day, but the symptoms may return as the medication wears off in the afternoonevening when the child is home). Physical Examination, Laboratory, and Other Assessments Most children with ADHD will have a normal physical exam, but one should be conducted as part of the diagnostic evaluation. Particular attention should be paid to cardiac and neurologic evaluations, thy roid, hearing and vision, and assessment for dysmorphic features that may signify an underlying condition, such as fetal alcohol syndrome. A childs behavior in the clinic visit may not represent the childs usual behaviors, as some children may be able to remain focused or calm for brief periods and others may exhibit more impulsivity or high activity level when nervous in the context of a clinic visit. Laboratory tests and brain imaging are not routinely recommended as part of an ADHD assessment. The presence of hypertension, ataxia, or asym metric neurologic examination or symptoms of a sleep, seizure, or thy roid disorder may prompt further diagnostic tests. Lead levels could be considered if there are other factors associated with risk for lead toxicity. The clinician should identify possible vision or hearing prob lems. Computerized attentional tasks and quantitative electroencepha lographic assessments are not needed to make the diagnosis. They are subject to high rates of false positive and false negative results and thus are of limited utility in the diagnostic assessment. Educational testing should be considered if there are concerns about academic progress, as specific learning disabilities in reading, ADHD Antisocial disorders Substance use Inattention and Impulsivity Risky behaviors Mood disorders Violence Crime Accidents Fighting Accidents Poor health habits Health risks Accidents Suicide Fig. 50.3 Pathways to premature death in persons with attention deficithyperactivity disorder (ADHD). (From Faraone SV. Attention defi cit hyperactivity disorder and premature death. Lancet. 2015;385:2132 2133.) Obtain detailed clinical history from parents or carers and young person Carry out core ADHD symptom enquiry: are symptoms out of keeping with childs age and developmental stage? Obtain information across settings; consider questionnaires as an adjunct Screen for associated difficulties (eg, mental health symptoms, other neurodevelopmental or learning problems) Developmental history (eg, motor delay) Medical history (eg, epilepsy) Family history (eg, mental health, educational history, physical health problems) Medical histories especially important in relation to cardiac or other risk factors if pharmacological treatment is being considered Consider severity of symptoms, effects on functioning, comorbid symptoms, medical history, and the familys and childs strengths, resources, demands, and psychosocial context when deciding on treatment options |
612 | Physical assessment: Signs of other disorders (eg, dysmorphic features, skin lesions) and motor coordination (eg, handwriting, balance); to be undertaken more completely if considering pharmacological treatment Baseline height, weight, blood pressure, pulse Fig. 50.4 Summary of the clinical assessment process for ADHD. ADHD, Attention deficithyperactivity disorder. (From Thapar A, Cooper M. Attention deficit hyperactivity disorder. Lancet. 2016;38710024:12401250, Fig. 2.) Downloaded for mohamed ahmed (dr.mms2020gmail.com) at University of Southern California from ClinicalKey.com by Elsevier on April 20, 2024. For personal use only. No other uses without permission. Copyright 2024. Elsevier Inc. All rights reserved. Chapter 50 u Attention Deficit Hyperactivity Disorder 313 mathematics, or written expression often coexist with ADHD (see Chapters 51 and 52). If there has been slow attainment of develop mental milestones, intelligence or developmental testing should be conducted. If there are concerns about a childs social communica tion skills combined with restricted, repetitive behaviors or interests, a clinical assessment for autism spectrum disorder may be indicated (see Chapter 58). Differential Diagnosis and Coexisting Conditions Given that the symptoms of ADHD can overlap with other conditions, a broad differential diagnosis should be considered. For ease of pre sentation, the differential diagnosis for ADHD can be grouped into specific categories of developmental, psychiatric, medical, and psy chosocial (Table 50.3). Children at either end of the developmental cognitive level (i.e., with significant cognitive delays or with superior intelligence) can appear inattentive andor distracted and sometimes also disruptive if the material in school or expectations at home are not appropriate for their developmental level. In differentiating impulsivity and challenging behaviors associated with ADHD versus an external izing disorder (oppositional defiant disorder ODD or conduct disor der), consider whether the child acts without thinking andor is more reactive (easily upset over demands for sustained attention or other small triggers), which would be more consistent with ADHD, versus proactively looks to aggress, fight, and challenge authority, which may be indicative of an externalizing disorder. Tic disorders can both pres ent with some symptoms similar to ADHD (e.g., fidgeting, squirming, making sounds that seem impulsive) and also commonly coexist with ADHD. For cases in which ADHD symptoms are reported in one set ting but not another, psychosocial causes should be considered, such as unrealistic classroom expectations, distress at home, or untoward parenting strategies. However, clinicians should be aware that inappro priate parenting strategies may be the result of the childs ADHD, as parents try anything (often unsuccessfully) to help their child. These parents are in need of parenting and behavioral supports, without feel ing blamed for their childs symptoms. Sleep disorders, including those secondary to chronic upper air way obstruction from enlarged tonsils and adenoids, often result in behavioral and emotional symptoms that can resemble or exacerbate ADHD (see Chapter 31). Periodic leg movements of sleeprestless legs syndrome have been associated with symptoms of inattention, and inquiry regarding this should be made during the history. Behavioral and emotional disorders can cause disrupted sleep patterns as well. Mental health disorders: Depression and anxiety disorders can |
613 | cause many of the same symptoms as ADHD (inattention, restlessness, inability to focus and concentrate on work, poor organization, forget fulness) but can also coexist with ADHD (see Chapters 38 and 39). Obsessive compulsive disorder can mimic ADHD, particularly when recurrent and persistent thoughts, impulses, or images are intrusive, interfering with normal daily activities. Adjustment disorders second ary to major life stresses (death of a close family member, parents divorce, family violence, parents substance abuse, or a move) or par entchild relationship disorders involving conflicts over discipline, overt child abuse andor neglect, or overprotection can result in symp toms similar to those of ADHD. When considering a new diagnosis in an adolescent patient, there should be an opportunity to interview the adolescent privately, and the adolescent should be specifically asked about mood symptoms and psychosocial stressors; frequent digital media use; and screened for use of alcohol, marijuana, and illicit substances. TREATMENT Overall Treatment Approach ADHD is considered a chronic condition and should be managed as such, with education about ADHD at the time of diagnosis and regular follow up visits to monitor and treat symptoms. Parent support groups with appropriate professional consultation to such groups can be very helpful. Treatment of ADHD should be multimodal and involve behavioral therapy, school based supports, andor medications. The treatment plan should be developed in collaboration with the child (if developmentally appropriate) and family. The recommended initial treatments for ADHD vary by age. Preschool age children: For children up until 6 years of age, the recommended first line treatment is evidence based parent andor teacher administered behavior therapy. If behavior interventions do not provide significant improvements and there is moderate to severe impairment in the childs functioning as a result of ADHD symptoms, medication should be considered. If behavioral interventions are not available, the risks of medication should be compared with risks of not treating ADHD symptoms. School age children and adolescents: For children ages 6 years old and older, ADHD medications should be considered first line treat ment, along with behavior and educational interventions. Organiza tional skills training, coaching, or cognitive behavioral therapy may be helpful for adolescents and adults. Behaviorally Oriented Treatments Behavioral interventions should be an integral part of the treatment plan for all children with ADHD. Behavioral interventions involve modify ing the environment and empowering caregivers with strategies to pro mote positive behaviors and minimize negative behaviors. Behavioral strategies typically focus on promoting a limited number of well defined appropriate behaviors, using positive reinforcement with increased adult attention, tangible rewards, or access to privileges. A token economy in which a child earns (or loses) tokens that can be exchanged for rewards may be used. Any rules should be clearly defined and consistently enforced. Behavioral parent training, also known as parent training in behavioral management, is a well established combination of behavioral interventions shown to reduce problematic behaviors and improve adap tive skills for children with ADHD. It involves teaching parents how to use behavior modification strategies to address specific behaviors, |
614 | with a strong emphasis on positive reinforcement (described earlier) while ignoring or, if necessary, systematically implementing appropriate con sequences for maladaptive behaviors. Treatments geared toward behav ioral management for ADHD often occur in the time frame of 8 12 sessions but may sometimes require more sessions. Table 50.3 Differential Diagnosis of Attention Deficit Hyperactivity Disorder (ADHD) GENERAL CATEGORY SPECIFIC CONDITIONS, CAUSES Developmental Low developmental levelcognitive abilities Very high cognitive abilities Specific learning disabilities in reading, mathematics, or written expression Communication or language disorder Autism spectrum disorder Fetal alcohol syndrome Psychiatric Anxietydepression Oppositional defiant disorderconduct disorder Bipolar disorderdisruptive mood dysregulation disorder Substance use disorder Posttraumatic stress disorderadjustment disorder Medical Sleep disorder, obstructive sleep apnea Hearing or vision impairment Specific medications, such as some antiepileptics or high dose steroids Thyroid disorders Tic disorders Posttraumatic head injury or encephalitis Genetic conditions, such as fragile X, Klinefelter syndrome, Turner syndrome, tuberous sclerosis, and neurofibromatosis Psychosocial Response to abuse, neglect Response to distress in home, inappropriate expectations or parenting practices Response to inappropriate classroom setting Downloaded for mohamed ahmed (dr.mms2020gmail.com) at University of Southern California from ClinicalKey.com by Elsevier on April 20, 2024. For personal use only. No other uses without permission. Copyright 2024. Elsevier Inc. All rights reserved. 314 Part IV u Learning and Developmental Disorders Although there is much less research published on psychosocial treatments for adolescents with ADHD, behavioral parent training can be modified to focus on improving communication between parents and adolescents with ADHD, developing a behavioral con tract, and problem solving around challenging situations. For chil dren and adolescents with ADHD and coexisting anxiety disorders andor depression, cognitive behavioral therapy may help address anxiety or low mood. At least 60 minutes of moderate to vigorous exercise is recom mended for the general health of all children 6 years old, and some studies indicate exercise may reduce ADHD symptoms in children; thus encouraging regular exercise is reasonable. Interventions includ ing cognitive training, electroencephalogram (EEG) biofeedback, and diet modification do not have the level of evidence needed to recom mend them for most children. Educational Supports and Accommodations Behavioral classroom management strategies can be used by teach ers to implement strategies within the whole classroom that will help children with ADHD. These include clear expectations and consistency in follow through, positive reinforcement for work completion and on task behaviors, and appropriate consequences when rules are not followed. Additionally, children with ADHD may benefit from individualized educational supports and accommoda tions, such as preferential seating near the source of instruction and away from distractions, motor breaks as needed, frequent teacher check ins, being able to take tests in a less distracting environment, and an individualized positive behavior plan. A daily report card or communication log can be used to facilitate regular communication between the parents and teachers. A daily report card is individu ally designed for each child to include target problem behaviors in academic andor social domains in the classroom (e.g., following directions, turning in work, getting along with others). The teacher |
615 | provides a rating for each behavior on the report card, which is sent home daily, and the child is given home based rewards for meeting goals set for the ratings from school. Children with ADHD often need explicit instruction in organi zation and executive functioning skills and may not develop these skills at the same pace as non ADHD peers. The use of an agenda book to record assignments, color coding for different classes, and teacher check ins regularly to help with organization may be help ful for some children, and others may require a higher level of more individualized instruction in the executive functioning domains of staying organized, planning, initiating tasks, shifting gears, and self monitoring. Children with ADHD and coexisting learning disorders, commu nication or developmental delays, significant mental health or oppo sitional challenges, or autism spectrum disorder often need more specialized educational supports than those that can be provided through accommodations in a general classroom. In the United States, these children would qualify to have an individualized educational plan (IEP) developed through the public school system. Medications Before medication initiation, a history and physical examination and an assessment for baseline sleep, eating, and mood should be conducted because these need to be monitored for a child on medi cation. Children with ADHD and their families should be educated on the benefits, risks, and side effects of medication, with a dis cussion about goals and expectations for medication treatment. It is common for a child to need to try several trials of different medications or doses to find the optimal ADHD pharmacologic treatment that both reduces core ADHD symptoms and is well tol erated. ADHD rating scales can be used to assess for medication effectiveness and side effects, both at initiation and during medica tion maintenance, and should be collected from parents and teach ers when possible. The types of medications used to treat ADHD fall into one of the following three categories: stimulants, norepinephrine reuptake inhibitors, and 2 adrenergic agonists. Stimulants are the most commonly used medications to treat ADHD and have been used to treat this condition since the 1930s. Stimulant medications have a slightly larger treatment effect size (standardized mean differ ence) than nonstimulants (approximately 1.0 for stimulants versus approximately 0.7 for both norepinephrine reuptake inhibitors and 2 adrenergic agonists). Although stimulants are generally recom mended as the first line ADHD medication, nonstimulant medi cations may be considered in the context of active substance use disorder for an adolescent with ADHD or household family member or if there is a strong family desire for a nonstimulant medication. Stimulants have been found to have relatively high rates of adverse effects (particularly moodiness and irritability) in preschool age children and in children with intellectual disability or autism spec trum disorder, leading some physicians to choose nonstimulant medication in these situations, as described later. When starting a stimulant, the clinician can select either a methylphenidate based or an amphetamine based medication. The decision about which stimulant medication to |
616 | use for a specific child or adolescent with ADHD is often based on factors such as dura tion of action (short, intermediate, long acting), preparation (pills, capsules that can be swallowed whole or whose contents can be sprinkled into food, chewable tablets, and liquids), and clinician preference or insurance company formularies. Stimulant medications have a rapid onset of action (ranging from about 20 minutes to up to an hour, depending on the formulation), and most leave the system within 3 12 hours, depending on if they are short, intermediate, or long acting. A child who responds poorly to one stimulant medica tion may do well with a different medication in that class or the other class (methylphenidate versus amphetamine). Stimulant medications should be initiated at the lowest available dose and titrated upward, assessing for both effectiveness and side effects, until reaching a dose that reduces ADHD symptoms and has minimal to no side effects. Common side effects of stimulant medication include decreased appetite, headaches, stomachaches, and difficulty falling asleep. If mood lability occurs, it should be noted whether this is while the stimulant medication is active (which may indicate that a different medication should be tried instead) or as the medication is wearing off (also called rebound and may indicate that a short acting prep aration should be replaced by a longer acting preparation or a low dose of a short acting preparation should be added about 30 minutes before the onset of the rebound symptoms). Height, weight, pulse, and blood pressure should be periodically monitored. Stimulants may be associated with a slight reduction in linear growth, although studies of the impact of stimulants on adult height range from findings of a slight impact to no significant differ ence. Children with decreased appetite from stimulants and difficulty with weight gain can be counseled to increase caloric intake later in the day when the appetite returns. Significant reductions (i.e., crossing two lines on the growth curve) in either height or weight for a child on stimulant medication may prompt changing to a different ADHD medication. Before starting stimulants, children should be screened for symp toms or signs suggestive of a cardiomyopathy, coronary artery disease, cardiac arrhythmias, or a family history of cardiac arrhythmias or sud den death under 50 years of age, and if these symptoms are present, an electrocardiogram andor evaluation by a cardiologist to determine if it is safe to start these medications is recommended. Most children with tics can be treated with stimulant medication, but occasionally these medications may exacerbate tics. In these cases, the risks and benefits of continuing versus changing or stopping the medication should be considered. Treatment of ADHD with stimulant medication is associated with reduced substance use risks. However, stimulant medications them selves are controlled substances with potential for misuse, diversion, and abuse. Therefore clinicians should regularly counsel adolescent patients about this risk, the importance of taking the medication only as prescribed, and about safe medication storage practices (e.g., keep ing medication in a |
617 | secure location). Downloaded for mohamed ahmed (dr.mms2020gmail.com) at University of Southern California from ClinicalKey.com by Elsevier on April 20, 2024. For personal use only. No other uses without permission. Copyright 2024. Elsevier Inc. All rights reserved. Chapter 51 u Dyslexia 315 Two types of selective norepinephrine reuptake inhibitors are approved by the U.S. Food and Drug Administration (FDA) for the treatment of ADHD in children and adolescents: atomoxetine and viloxazine. These medications take up to 4 weeks to achieve effective ness and should be taken consistently to be effective. Both atomoxetine and viloxazine have common side effects of fatigue, decreased appe tite, nausea, vomiting, and irritability and a rare potential for suicidal thinking and behaviors for which the child must be monitored. 2 Adrenergic agonist medications include guanfacine and cloni dine. Long acting preparations of both have U.S. FDA approval for the treatment of ADHD in children 6 years old either as mono therapy or an adjunctive therapy with stimulant medication. Short acting preparations are sometimes used off label to treat young (6 year old) children with ADHD (especially those with coexist ing autism spectrum disorder or sleep disorders). 2 Adrenergic agonists may take up to 2 weeks to achieve an initial response. These medications can also treat motor and vocal tics and so may be a reasonable choice in a child with a coexisting tic disorder. Com mon side effects of 2 adrenergic agonists can include sedation, headaches, and hypotension, and they should be stopped gradually because abrupt discontinuation could result in rapid increase in blood pressure. Medication alone may not be sufficient to treat ADHD in chil dren, particularly when children have additional psychiatric dis orders, developmental disabilities, or significant psychosocial challenges. When children do not respond to medication, it may be appropriate to refer them to a mental health specialist. Consulta tion with a child psychiatrist, developmental behavioral pediatri cian, or psychologist can be beneficial to determine the next steps for treatment, including adding other components and supports to the overall treatment program. Evidence suggests that children who receive careful medication management, accompanied by frequent treatment follow up, all within the context of an educational, sup portive relationship with the primary care provider, are likely to experience behavioral gains. PROGNOSIS More than half of individuals with a childhood diagnosis of ADHD will manifest a mental health condition (e.g., anxiety, depression, substance use disorders) in adulthood. Approximately one third to two thirds of those diagnosed with ADHD in childhood will con tinue to manifest significant symptoms of ADHD in adulthood. In children with ADHD, a reduction in hyperactive behavior often occurs with age. Other symptoms associated with ADHD can become more prominent with age, such as inattention, impulsiv ity, and disorganization, and these exact a heavy toll on adolescent and young adult functioning. Adolescents and young adults with ADHD have an increased likelihood of risk taking behaviors (early sexual activity, delinquent behaviors, motor vehicle accidents, sub stance use), seizures, psychosis, educational underachievement or employment difficulties, and relationship difficulties. |
618 | With proper treatment, the risks associated with ADHD, including injuries, can be significantly reduced. Consistent treatment with medication and adjuvant therapies appears to lower the risk of adverse outcomes, such as substance abuse. SECONDARY PREVENTION Parent training can lead to significant improvements in ADHD symptoms and oppositional behaviors in preschool and school age children with ADHD. To the extent that parents, teachers, physicians, and policymakers support efforts for earlier detection, diagnosis, and treatment, prevention of long term adverse effects of ADHD on affected childrens functioning can be considered within the lens of secondary prevention of the long term effects of untreated or ineffectively treated ADHD on children and youth. Visit Elsevier eBooks at eBooks.Health.Elsevier.com for Bibliography. DEFINITION Dyslexia has always been defined as an unexpected difficulty in read ing, which has been codified in U.S. Federal law (First Step Act of 2018, PL: 115391) as the most up to date, evidence based definition of dyslexia: The term dyslexia means an unexpected difficulty in reading for an individual who has the intelligence to be a much better reader, most commonly caused by a difficulty in the phonological process ing (the appreciation of the individual sounds of spoken language), which affects the ability of an individual to speak, read, and spell. In typical readers, development of reading and intelligence quotient (IQ) are dynamically linked over time. In dyslexic readers, however, a developmental uncoupling occurs between reading and IQ (Fig. 51.1), such that reading achievement is significantly below what would be expected given the individuals IQ. The uncoupling between reading achievement and IQ provides the long sought empirical evidence for the seeming paradox between cog nition and reading in individuals with developmental dyslexia, and this discrepancy is recognized in the federal definition as unexpected diffi culty in reading. However, clinicians may see other approaches to diag nosis. The Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM 5) describes specific learning disorder with impairment in reading for children with reading skills significantly below those expected for the childs age where the deficits are not explained by intellectual disability, sensory deficits, neurologic disorders, or psy chosocial adversity. This definition can be problematic in failing to differentiate primary problems with reading comprehension from the reading problems experienced by children with dyslexia despite strong evidence that the two are distinct. Further, excluding children with psychosocial adversity is concerning because children who struggle with reading due to psychosocial adversity suffer similar adverse long term consequences and have been shown to benefit from interventions designed to help children with dyslexia. Chapter 51 Dyslexia Sally E. Shaywitz and Bennett A. Shaywitz Typical: IQReading Linked Dyslexia: IQReading Diverge Dyslexic IQ Reading Nonimpaired Grade in School 2 4 6 8 10 12 2 4 6 8 10 12 Fig. 51.1 Uncoupling of reading and IQ over time: empirical evidence for a definition of dyslexia. Left, In typical readers, reading and IQ de velopment are dynamically linked over time. Right, In contrast, reading and IQ development are dissociated in dyslexic readers, |
619 | and one does not influence the other. (Copyright Sally Shaywitz, MD. Adapted from Shaywitz S, Shaywitz J. Overcoming Dyslexia, 2nd ed. New York: Vin tage Books;2020: 103.) Downloaded for mohamed ahmed (dr.mms2020gmail.com) at University of Southern California from ClinicalKey.com by Elsevier on April 20, 2024. For personal use only. No other uses without permission. Copyright 2024. Elsevier Inc. All rights reserved. 316 Part IV u Learning and Developmental Disorders EPIDEMIOLOGY Dyslexia is the most common of the learning disabilities, affecting 8090 of children identified as having a learning disability. Dyslexia may be the most common neurobehavioral disorder affecting children, with prevalence rates ranging from 20 in unselected population based samples to much lower rates in school identified samples. The low prevalence rate in school identified samples may reflect the reluctance of schools to screen, assess, and identify dyslexia. Dyslexia occurs with equal frequency in males and females in survey samples in which all children are assessed. Despite such well documented find ings, schools continue to identify more males than females, probably reflecting the more rambunctious behavior of males who come to the teachers attention because of misbehavior, whereas females with read ing difficulty, who are less likely to be misbehaving, are also less likely to be noticed and identified by the schools. Dyslexia fits a dimensional model in which reading ability and disability occur along a continuum. PATHOGENESIS Evidence from a number of lines of investigation indicates that dyslexia reflects deficits within the language system, and more specifically, within the phonologic component of the language system engaged in process ing the sounds of speech. Individuals with dyslexia have difficulty devel oping an awareness that spoken words can be segmented into smaller elemental units of sound (phonemes), an essential ability given that read ing requires that the reader map or link printed symbols to their sounds. Increasing evidence indicates that disruption of attentional mechanisms may also play an important role in reading difficulties. Functional brain imaging in both children and adults with dyslexia demonstrates an inefficient functioning of left hemisphere posterior brain systems, a pattern referred to as the neural signature of dyslexia (Fig. 51.2). These differences can be observed before the start of formal reading instruction, suggesting they represent a biologic predisposition to reading difficulties as opposed to a result of inadequate instruction. Although functional magnetic resonance imaging (fMRI) consistently demonstrates differences between groups of dyslexic compared to typi cal readers, brain imaging is not able to reliably differentiate an indi vidual case of a dyslexic reader from a typical reader and thus is not useful in diagnosing dyslexia. CLINICAL MANIFESTATIONS Reflecting the underlying phonologic weakness, children and adults with dyslexia manifest problems in both spoken and writ ten language. Spoken language difficulties are typically manifest by mispronunciations, lack of glibness, speech that lacks fluency with many pauses or hesitations and ums, word finding difficulties with the need for time to summon an oral response, and the inability to come up with a verbal response quickly when questioned; these reflect |
620 | sound based, not semantic or knowledge based, difficulties. Struggles in decoding and word recognition can vary according to age and developmental level. The cardinal signs of dyslexia observed in school age children and adults are a labored, effortful approach to reading involving decoding, word recognition, and text reading. Lis tening comprehension is typically robust. Older children improve reading accuracy over time, but without commensurate gains in read ing fluency; they remain slow readers. Difficulties in spelling typically reflect the phonologically based difficulties observed in oral reading. Handwriting is often affected as well. History often reveals early subtle language difficulties in dyslexic children. During the preschool and kindergarten years, at risk children display difficulties playing rhyming games and learning the names for letters and numbers. Kindergarten assessments of these language skills can help identify children at risk for dyslexia. Although a dyslexic child enjoys and benefits from being read to, the child might avoid reading aloud to the parent or reading independently. Dyslexia may coexist with attention deficithyperactivity disor der (see Chapter 50); this comorbidity has been documented in both referred samples (40 comorbidity) and nonreferred samples (15 comorbidity). DIAGNOSIS A large achievement gap between typical and dyslexic readers is evi dent as early as first grade and persists (Fig. 51.3). These findings pro vide strong evidence and impetus for early screening and identification of and early intervention for young children at risk for dyslexia. One source of potentially powerful and highly accessible screening informa tion is their teachers judgment about the childs reading and reading related skills. Evidence based screening can be carried out as early as kindergarten, and also in grades 1 3, by the childs teacher. Their teach ers responses to a small set of questions (10 12 questions) predict a pool of children who are at risk for dyslexia with a high degree of accu racy. This evidence based screening takes less than 10 minutes, is com pleted on a tablet, and is extremely efficient and economical. Children Fig. 51.2 A neural signature for dyslexia. Image on left shows left hemisphere brain systems in typical (nonimpaired) readers. The three systems for reading are an anterior system in the region of the inferior frontal gyrus (Brocas area), serving articulation and word analysis, and two posterior systems: one in the occipitotemporal region serving word analysis and a second in the occipitotemporal region (the word form area) serving the rapid, automatic, fluent identification of words. In dys lexic readers (right image), the two posterior systems are functioning inefficiently and appear underactivated. This pattern of underactiva tion in left posterior reading systems is referred to as the neural signa ture for dyslexia. (Copyright Sally Shaywitz, MD. Adapted from Shay witz S. Shaywitz J. Overcoming Dyslexia, 2nd ed. New York: Vintage Books;2020: 78.) 1 2 1 0 1 2 3 4 2 3 4 5 Grade in school R ea di ng 6 7 Typical readers Dyslexic readers 8 9 Fig. 51.3 Reading from grades 1 through 9 in typical and dyslexic |
621 | readers. The achievement gap between typical and dyslexic readers is evident as early as first grade and persists through adolescence. (Copy right Sally Shaywitz, MD. Adapted from Shaywitz S. Shaywitz J. Over coming Dyslexia, 2nd ed. New York: Vintage Books;2020: 56.) Downloaded for mohamed ahmed (dr.mms2020gmail.com) at University of Southern California from ClinicalKey.com by Elsevier on April 20, 2024. For personal use only. No other uses without permission. Copyright 2024. Elsevier Inc. All rights reserved. Chapter 51 u Dyslexia 317 found to be at risk will then have further assessment and, if diagnosed as dyslexic, should receive evidence based intervention. Dyslexia is a clinical diagnosis, and history is especially critical. The clinician seeks to determine through history, observation, and psycho metric assessment if there are unexpected difficulties in reading (based on the persons intelligence, chronologicgrade, level of education, or professional status) and associated linguistic problems at the level of phonologic processing. No single test score is pathognomonic of dys lexia. The diagnosis of dyslexia should reflect a thoughtful synthesis of all clinical data available. Dyslexia is distinguished from other disorders that can prominently feature reading difficulties by the unique, circumscribed nature of the phonologic deficit, one that does not intrude into other linguistic or cognitive domains. A core assessment for the diagnosis of dyslexia in children includes tests of language, particularly phonology; reading, including real and pseudowords; reading fluency; spelling; and tests of intellectual ability. Additional tests of memory, general language skills, and mathematics may be administered as part of a more comprehen sive evaluation of cognitive, linguistic, and academic function. For informal screening, in addition to a careful history, the primary care physician in an office setting can listen to the child read aloud from the childs own grade level reader. Keeping a set of graded readers available in the office serves the same purpose and eliminates the need for the child to bring in schoolbooks. Oral reading is a sensitive measure of reading accuracy and fluency. The most consistent and telling sign of a reading disability in an accom plished young adult is slow and laborious reading and writing. In attempting to read aloud, most children and adults with dyslexia display an effortful approach to decoding and recognizing single words, an approach in children characterized by hesitations, mis pronunciations, and repeated attempts to sound out unfamiliar words. In contrast to the difficulties they experience in decoding single words, persons with dyslexia typically possess the vocabulary, syntax, and other higher level abilities involved in comprehension. Fluency forms the bridge between decoding, that is, reading a word accurately, and comprehension, understanding what is read. Fluent reading is reading accurately and rapidly, with good intona tion (prosody) indicating an understanding of the text. The failure either to recognize or to measure the lack of fluency in reading is perhaps the most common error in the diagnosis of dyslexia, espe cially in older children and accomplished young adults. Simple word identification tasks will not detect dyslexia in a person who is accomplished |
622 | enough to be in honors high school classes or to graduate from college or obtain a graduate degree. Tests relying on the accuracy of word identification alone are inappropriate to use to diagnose dyslexia because they show little to nothing of the struggle to read. Because they assess reading accuracy but not automaticity or prosody, the types of reading tests used for school age children might provide misleading data on bright adolescents and young adults. Among the most critical tests are those that are timed; they are the most sensitive in detecting dyslexia in a bright adult. Few standardized tests for young adult readers are administered under timed and untimed conditions; the Nelson Denny Reading Test is an exception. The helpful Test of Word Reading Efficiency (TOWRE) examines simple word reading under timed conditions, and the Achievement Improvement Monitoring System (AIMSweb) and Dynamic Indicators of Basic Early Literacy Skills (DIBELS) mea sure reading connected text under timed conditions. Any scores obtained on testing must be considered relative to peers with the same degree of education or professional training. IS FAMILY HISTORY HELPFUL IN DIAGNOSING DYSLEXIA? Although dyslexia is familial, family history is not effective as a screen ing measure for dyslexia and does not improve the classification accu racy provided by an evidence based early screening measure. Genome wide association studies (GWASs) in children with dys lexia have demonstrated that a large number of genes are involved, each producing a small effect. Complex traits such as reading are the work of thousands of genetic variants working in concert (see Chapter 103). Thus pediatricians should be wary of recommending any genetic test to their patients that purports to diagnose dyslexia in infancy or before language and reading have even emerged. It is unlikely that a single gene or even a few genes will reliably identify people with dys lexia. Rather, dyslexia is best explained by multiple genes, each contrib uting a small amount toward the expression of dyslexia. MANAGEMENT The management of dyslexia demands a life span perspective. Early in life the focus is on remediation of the reading problem. Applying knowledge of the importance of early language, including phonologic skills and vocabulary, leads to significant improvements in childrens reading accuracy, even in predisposed children. As a child matures and enters the more time demanding setting of middle and then high school, the emphasis shifts to the important role of providing accommodations. Based on the work of the National Reading Panel, evidence based reading intervention methods and programs are iden tified. Effective intervention programs provide systematic instruction in five key areas: phonemic awareness, phonics, fluency, vocabulary, and comprehension strategies. These programs also provide ample opportunities for writing, reading, and discussing literature. Taking each component of the reading process in turn, effective interventions improve phonemic awareness: the ability to focus on and manipulate phonemes (speech sounds) in spoken syllables and words. The elements found to be most effective in enhancing pho nemic awareness, reading, and spelling skills include teaching chil dren to |
623 | manipulate phonemes with letters, focusing the instruction on one or two types of phoneme manipulations rather than multiple types, and teaching children in small groups. Providing instruction in phonemic awareness is necessary, but not sufficient, to teach children to read. Effective intervention programs include teach ing phonics, or making sure that the beginning reader understands how letters are linked to sounds (phonemes) to form letter sound correspondences and spelling patterns. The instruction should be explicit and systematic; phonics instruction enhances childrens success in learning to read, and systematic phonics instruction is more effective than instruction that teaches little or no phonics or that teaches phonics casually or haphazardly. Important but often overlooked is starting children on reading connected text early on, optimally at or near the beginning of reading instruction. Read ing connected text is critical in building vocabulary and increas ing background knowledgeboth important in improving reading comprehension. Fluency is of critical importance because it allows the automatic, rapid recognition of words. Although it is generally recognized that fluency is an important component of skilled reading, it is often over looked in teaching. One approach is to have a child practice oral read ing with a teacher or parent providing positive and helpful feedback. Here practice is critical. Interventions for vocabulary development and reading comprehension are not as well established. The most effective methods to teach reading comprehension involve teaching vocabulary and strategies that encourage active interaction between the reader and the text. Emerging science indicates that it is not only teacher content knowledge but the teachers skill in engaging the student and focusing the students attention on the reading task at hand that is required for effective instruction. The interventions described here can be provided in multiple set tings, but specialized schools for children with dyslexia that provide intensive intervention over 4 years or more have been very effective. Typically, these schools are costly, although increasingly offering scholarships. Some school districts are considering developing public schools specializing in educating children with dyslexia. Downloaded for mohamed ahmed (dr.mms2020gmail.com) at University of Southern California from ClinicalKey.com by Elsevier on April 20, 2024. For personal use only. No other uses without permission. Copyright 2024. Elsevier Inc. All rights reserved. 318 Part IV u Learning and Developmental Disorders For those in high school, college, and graduate school, provision of accommodations most often represents a highly effective approach to dyslexia. Imaging studies now provide neurobiologic evidence of the need for extra time for dyslexic students; accordingly, college students with a childhood history of dyslexia require extra time in reading and writing assignments and in examinations. Many adolescent and adult students have been able to improve their reading accuracy, but without commensurate gains in reading speed. The accommodation of extra time reconciles the individuals often high cognitive ability and slow reading, so that the exam is a measure of that persons ability rather than disability. Another important accommodation is helping the student access text to speech programs. Excellent text to speech pro grams and |
624 | apps are available for Apple and Android systems and the PC and include Voice Dream Reader, Immersive Reader (available for free in all Microsoft Office programs, including Word, OneNote, and PowerPoint), Kurzweil Firefly, Read Write Gold, Read: OutLoud, and Natural Reader. Voice to text programs are also helpful, often part of the suite of programs, as well as the popular Dragon Dictate. Voice to text is found on many smartphones. Other helpful accommodations include the use of laptop computers with spelling checkers, access to lecture notes, tutorial services, and a separate quiet room for taking tests. In addition, the impact of the primary phonologic weakness in dys lexia mandates special consideration during oral examinations so that students are not graded on their lack of glibness or speech hesitancies, but on their content knowledge. Unfortunately, speech hesitancies or difficulties in word retrieval often are wrongly confused with insecure content knowledge. The major difficulty in dyslexiareflecting prob lems accessing the sound system of spoken languagecauses great difficulty learning a second language. As a result, an often necessary accommodation is a waiver or partial waiver of the foreign language requirement; the dyslexic student may enroll in a course taught in Eng lish on the history or culture of a nonEnglish speaking country. PROGNOSIS Application of evidence based methods to young children, when pro vided with sufficient intensity and duration, can result in improve ments in reading accuracy and, to a much lesser extent, fluency. Improvements in fluency can be effected with frequent practice in reading aloud with the helpful input of a teacher or parent. As noted earlier, accommodations are critical in allowing the dyslexic child to demonstrate his or her knowledge. Critical thinking Sea of strengths model of dyslexia Comprehension General knowledge Empathy Problem solving Vocabulary Reasoning Concept formation Decoding Fig. 51.4 Sea of strengths model of dyslexia. In dyslexia, a circum scribed, encapsulated weakness in decoding is surrounded by a sea of strengths in higher level thinking and reasoning. The weakness in decod ing masks what are often excellent thinking and comprehension skills. (Copyright Sally Shaywitz, MD. Adapted from Shaywitz S. Shaywitz J. Overcoming Dyslexia, 2nd ed. New York: Vintage Books;2020: 141.) A person who is dyslexic experiences through life aligns with our Sea of Strengths model of dyslexia (Fig. 51.4). This model indicates that in dyslexia there is a weakness in decoding reflecting the difficulties connecting letters to sounds, a weakness that is very visible early on when learning to read. At the same, this weakness is surrounded by a sea of strengths in higher level cognitive, big picture thinking, includ ing reasoning, problem solving, vocabulary, empathy, concept forma tion, and critical thinking. It is this sea of strengths that comes to the fore and supports a positive future as a person with dyslexia matures. The sea of strengths was very visible in a recent report examining the academic and social experiences in college and outcomes in the work place 5 or more years after graduation in Yale graduates with |
625 | dyslexia compared with a matched group of Yale graduates who were typical readers. Dyslexic college graduates did not differ from typical gradu ates either in college or in the workplace. Parents of dyslexic children often ask about their childs future. These findings should reassure those pediatricians and parents that dyslexic students can succeed all along the developmental pathway throughout school, and now through college and the workplace. With proper support, dyslexic children can succeed in a range of future occupations that might seem out of their reach, including medicine, law, journalism, and writing. Visit Elsevier eBooks at eBooks.Health.Elsevier.com for Bibliography. 52.1 Math Disabilities Kenneth L. Grizzle and Brittany J. Bice Urbach Data from the U.S. National Center for Educational Statistics for 2009 showed that 69 of U.S. high school graduates had taken algebra 1, 88 geometry, 76 algebra 2trigonometry, and 35 precalculus. These percentages are considerably higher than those from 20 years earlier. However, concerns remain about the limited mathematics lit eracy level for children, adolescents, and those entering the workforce; poor math skills predict numerous social, employment, and emotional challenges. The need for number and math literacy extends beyond the workplace and into daily lives, and weaknesses can negatively affect daily functioning. Research into the etiology and treatment of math disabilities falls behind the study of reading disabilities (see Chapter 51), and yet the database needed to effectively identify, treat, and mini mize the impact of math challenges on daily functioning and education is growing. MATH LEARNING DISABILITY DEFINED Understanding learning challenges associated with mathematics requires a basic appreciation of domain specific terminology and operations. The Diagnostic and Statistical Manual for Mental Disorders, Fifth Edition (DSM 5) has published diagnostic criteria for learning disorders. Specific types of learning challenges are subsumed under the broad term of specific learning disorder (SLD). The DSM 5 identifies Chapter 52 Math and Writing Disabilities Downloaded for mohamed ahmed (dr.mms2020gmail.com) at University of Southern California from ClinicalKey.com by Elsevier on April 20, 2024. For personal use only. No other uses without permission. Copyright 2024. Elsevier Inc. All rights reserved. Chapter 52 u Math and Writing Disabilities 319 the following features of a SLD with an impairment in math: diffi culties mastering number sense, number facts, or fluent calculation and difficulties with math reasoning. Symptoms must be present for a minimum of 6 months and persist despite interventions to address the learning challenges. Number sense refers to a basic understanding of quantity, number, and operations and is represented as nonverbal and symbolic. Examples of number sense include an understanding that each number is 1 more or 1 less than the previous or following number, knowledge of number words and symbols, and the ability to compare the relative magnitude of numbers and perform simple arith metic calculations. The DSM 5 definition can be contrasted with an education defined learning disability in mathematics. Two math related areas are iden tified as part of the Individuals with Disabilities Education Act (IDEA): mathematics calculation and mathematics problem solving. Operationally, |
626 | this is reflected in age level competency in arithmetic and math calculation, word problems, interpreting graphs, under standing money and time concepts, and applying math concepts to solve quantitative problems. The federal government allows states to choose the way a learning disability (LD) is identified if the procedure is research based. Referred to specifically in the IDEA as methods for identifying an LD are a discrepancy model and use of a process based on the childs response to scientific, research based intervention. The former refers to identifying an LD based on a pronounced discrepancy between intellectual functioning and academic achievement. The latter, referred to as a response to intervention (RtI) model, requires school systems to screen for a disability, intervene using evidence based treat ments for the identified disability, closely monitor progress, and make necessary adjustments to the intervention as needed. If a child is not responding adequately, a multidisciplinary team is created, and an evaluation is then completed to determine whether the child quali fies for special education programming. Not responding to the inter ventions alone does not result in automatic qualification for services outside of regular education. Rather, it is a three step process: lack of adequate progress to the interventions, an evaluation of the area(s) of concern, and then determination by the team if an individualized educational plan (IEP) is needed. The IEP team typically consists of teachers, special education teacher, school psychologist, school district representative, parents, and, depending on their age, the student. It is important that primary care providers understand the RtI pro cess because many states require or encourage this approach to iden tifying LDs. Confusion can be avoided by helping concerned parents understand that a school may review their childs records, screen the skills of concern, and provide intervention with close progress moni toring before initiating the process for an IEP. Traditional psychoedu cation testing (IQ and achievement) may only be completed if a child has not responded well to specific interventions. The RtI approach is a valuable, empirically supported way to approach and identify a poten tial LD but is very different from a medical approach to diagnosis and treatment. First and foremost, this allows for early intervention, which has been shown repeatedly to decrease the likelihood of a later identi fied LD. Intervening early also allows educators to avoid the wait to fail model that all too often waited for children to enter third or fourth grade before receiving needed services. Terminology The term dyscalculia, often used in medicine and research but seldom used by educators, is reserved for children with a SLD in math when there is a pattern of deficits in learning arithmetic facts and accurate, fluent calculations. The term math learning disability (MLD) is used generically here, with dyscalculia used when limiting the discussion to children with deficient math calculation skills. A distinction is also made between children with a MLD and those who are low achieving (LA) in math; both groups have received considerable research focus. Although |
627 | not included in either definition provided earlier, research into math deficits often require that individuals identified with MLD have math achievement scores below the 10th percentile across mul tiple grade levels. These children start out poorly in math and con tinue poor performance across grades, despite interventions. LA math students consistently score below the 25th percentile on math achieve ment tests across grades, often showing the same weak math related characteristics as those with MLD but with less severity. Complicating the identification of MLD and its differentiation from LA math stu dents is the variability in relative complexity of math concepts that may result in short lived math difficulties. EPIDEMIOLOGY Prevalence Depending on how MLD is defined and assessed, the prevalence varies. Based on findings from multiple studies, approximately 7 of children will show a MLD profile before high school graduation. An additional 10 of students will be identified as LA. Because research in the area typically requires that individuals show deficits for consecutive years, the respective prevalence estimates are lower than the 10th percentile cutoff for being identified as having an MLD or the 25th percentile cutoff for being identified as LA. It is not unusual for children to score below the criterion one year and then above the criterion in subsequent years. Males are at greater risk to experience MLD. Risk Factors Genetics The heritability of math skills is estimated to be approximately 0.50. The heritability or genetic influence on math skills is consistent across the continuum from high to low math skills. This research empha sizes that although math skills are learned across time, the stability of math performance is the result of genetic influences. Math heritability appears to be the product of multiple genetic markers, each having a small effect. MedicalGenetic Conditions Numerous genetic syndromes are associated with math problems. Although most children with fragile X syndrome have an intellectual disability (ID), approximately 50 of females with the condition do not. Of those without an ID, 75 have a math disability by the end of third grade and are already scoring below average in mathematics in kindergarten and first grade. For females with fragile X MLD, weak working memory seems to play an important role. The frequency of MLD in Turner syndrome (TS) is the same as that found in females with fragile X syndrome. A consistent finding is females with TS complete math calculations at significantly slower speed than typi cally developing students. Although females with TS have weak cal culation skills, their ability to complete math problems not requiring explicit calculation is similar to that of their peers. The percentage of children with 22q11.2 deletion syndrome (22q11.2ds) with MLD is not clear. Younger children with this genetic condition (6 10 years old) showed similar number sense and calculation skills as typically developing children but weaker math problem solving. Older children with 22q11.2ds showed slower speed in their general number sense and calculations, but accuracy was maintained. Weak counting skills and magnitude comparison have been |
628 | found in this group of children, suggesting weak visual spatial processing. Children with myelome ningocele are at greater risk for math difficulties than their unaffected peers. Almost 30 of these children have MLD without an additional diagnosed learning disorder, and 50 have both math and reading learning disorders. Although broad, deficits are most pronounced in speed of math calculation and written computation. Comorbidities It is estimated that 3070 of those with MLD will also have a read ing disability. This is especially important because children with MLD are less likely to be referred for additional educational assistance and intervention than students with reading problems. Unfortunately, chil dren identified with both learning challenges perform poorer across psychosocial and academic measures than children with MLD alone. Having a MLD places a child at greater risk for not only other learning challenges but also psychiatric disorders, including attention deficit hyperactivity disorder (ADHD), oppositional defiant disorder, conduct disorder, generalized anxiety disorder, and major depressive disorder. Downloaded for mohamed ahmed (dr.mms2020gmail.com) at University of Southern California from ClinicalKey.com by Elsevier on April 20, 2024. For personal use only. No other uses without permission. Copyright 2024. Elsevier Inc. All rights reserved. 320 Part IV u Learning and Developmental Disorders Individuals with MLD have been found to have increased social isola tion and difficulties developing social relationships in general. CAUSES OF MATH LEARNING DISABILITY There is a consensus that individuals with MLD are a heterogeneous group, with multiple potential broad and specific deficits contribut ing to their learning difficulties. Research into the causes of MLD has focused on math specific processes and broad cognitive deficits, with an appreciation that these two factors are not always independent. Broad Cognitive Processes Intelligence Intelligence affects learning, but if intellectual functioning were the primary driver of poor math performance, the math skills of low IQ children would be similar or worse than individuals with MLD. On the contrary, children with MLD have significantly poorer math achieve ment than children with low IQ. Children with MLD have severe deficits in math not accounted for by their cognitive functioning. Individuals with lower cognition may have difficulty learning mathematics, but their math skills are likely to be commensurate with their intelligence. Memory Working memory (WM) refers to the ability to keep information in mind while using the information in other mental processes. WM is composed of three core systems: the central executive, the language related phonologic loop, and the visual based sketch pad. The central executive coordinates the functioning of the other two systems. All three play a role in various aspects of learning and in the development and application of math skills in particular; children with MLD have shown deficits in each area. Committing math facts to andor retrieving facts from memory has consistently been found to be problematic for children with MLD. This is not necessarily limited to inaccurate retrieval of facts but also speed of retrieval, independent of broader speed of processing defi cits. Unfortunately, unlike some typically developing peers who |
629 | may be slower but accurate in their fact retrieval, students with MLD are often slow and inaccurate. Weak fact encoding or retrieval alone do not determine an MLD diagnosis. Many math curricula in the United States do not include development of math facts as a part of the instruc tional process, resulting in children not knowing basic facts. Processing Speed Individuals with MLD are often slower to complete math problems than their typically developing peers, a result in part of their poor fact retrieval rather than broader speed of processing deficits. However, young chil dren later identified with a MLD when beginning school have numerical processing speed that is considerably slower than same age same grade peers. This is reflected in the time required to recognize numbers, cor rectly order fractions, and complete word problems. Problem Solving Not only do children with MLD struggle to quickly and accurately engage in numerical related activities, in part because of these diffi culties, they commonly rely on less efficient and laborious problem solving practices. This is seen in children relying on finger counting beyond second grade, use of repeated adding for multiplication facts, pronounced difficulty moving beyond reliance on manipulatives, and drawing objects to help with calculation. Difficulties with math pro cesses across multiple levels can result in math being a time intensive and time consuming process for kids with MLD. Executive Skills Difficulties with executive functioning (EF) can lead to challenges in multiple areas of a childs life, academic and nonacademic (see Chap ter 49). Performance in math is but one example. EF refers to skills including but not limited to sustained attention, managing impulses, cognitive and behavioral flexibility, and WM. Anyone who has worked with children diagnosed with ADHD, a group of kids notorious for having EF challenges, can appreciate the impact these behaviors could potentially have on math. Deficits in WM, auditory and visual, can neg atively affect a childs development of math skills. A child approaching a word problem exemplifies the impact of various executive skills on math. The child must keep in memory the content read and integrate it with what they know about the topic and possible operation to apply, all the while not responding to the irrelevant information contained within the passage. Creating a mental representation of the problem requires use of the visual sketch pad (visual WM). Math Specific Processes Number Sense The term number sense has been defined in different ways, though the general agreement is that the concept refers to an intuitive preverbal ability to identify an approximation of items within a set that precedes formal math instruction. This is seen in the ability to recognize and manipulate nonsymbolic properties without having to apply a name to the processfor example, recognizing that a box of three dots is fewer than a box containing five dots. Unlike their peers, children with MLD are more likely to count the number of items within the comparison rather than recognizing the apparent difference. Math is a symbolic |
630 | process and cannot be efficiently learned and mastered without understanding this numerical skill. There is consid erable evidence that young children who struggle to develop symbolic numerical representation, in contrast to number sense, are at con siderable risk to have difficulty developing higher level math skills. Examples of symbolic representations range from recognizing that the numeral 4 and word four reflect a quantity and quickly recognizing the larger (or smaller) of two numbers, all the way to understanding frac tions and more complex notations. Procedural Errors The type of errors made by children with a, MLD are typical for any child, the difference being that children with a LD show a 2 to 3 year lag in understanding the concept. An example of a common error a first grade child with a, MLD might make when counting on is to undercount: 6 2 ? ; 6, 7 rather than starting at 6 and counting an additional two numbers. As children with math deficits get older, it is common to subtract a larger number from a smaller number. For example, in the problem 63 29 46, the child makes the mistake of subtracting 3 from 9. Another common error is not decreasing the number in the 10s column when borrowing: 64 39 35. For both adding and subtracting, there is a lack of understanding of the com mutative property of numbers and a tendency to use repeated addition rather than fact retrieval. It is not that children with an MLD do not develop these skills, it is that they develop them much later than their peers, thereby making the transition to complicated math concepts much more challenging. Unlike dyslexia, in which deficits have been isolated and identified as causal (see Chapter 51), factors involved in the development of a MLD are much more heterogeneous. Alone, none of the processes previously outlined fully account for MLD, although all have been implicated as problematic for those struggling with math. TREATMENT AND INTERVENTIONS The most effective interventions for MLD are those that include explicit instruction on solving specific types of problems and that take place over several weeks to several months. Skill based instruction is a critical component; general math problem solving will not carry over across various math skills unless the skill is part of a more complex math concept. Clear, comprehensive guidelines for effective interven tions for students struggling with math have been provided by the U.S. Department of Education in the form of a Practice Guide released through the What Works Clearinghouse. This document gives excel lent direction in the identification and treatment of children with math difficulties in the educational system. Although not intended for medi cal personnel or parents, the guide is available free of charge and can be helpful for parents when talking to teachers about their childs learning. Table 52.1 lists additional resources for parents concerned about their young childs development of math facts. Downloaded for mohamed ahmed (dr.mms2020gmail.com) at University of Southern California from ClinicalKey.com by |
631 | Elsevier on April 20, 2024. For personal use only. No other uses without permission. Copyright 2024. Elsevier Inc. All rights reserved. Chapter 52 u Math and Writing Disabilities 321 Awareness that most public school systems have implemented some form of an RtI model to identify LDs allows the primary care physician to encourage parents to return to the school seeking an intervention to address their childs concern. Receiving special education services in the form of an IEP may be necessary for some children. However, the current approach to identifying children with an LD allows school systems to intervene earlier, when problems arise, and potentially avoid the need for an IEP. Pediatricians with patients whose parents have received feedback from school with any of the risk factors outlined in Table 52.2 should encourage the parents to discuss an intervention plan with the childs teacher. Visit Elsevier eBooks at eBooks.Health.Elsevier.com for Bibliography. 52.2 Writing Disabilities Kenneth L. Grizzle and Brittany J. Bice Urbach Oral language is a complex process that typically develops in the absence of formal instruction. In contrast, written language requires instruction in acquisition (word reading), understanding (reading comprehension), and expression (spelling and composition). Unfor tunately, despite reasonable pedagogy, a subset of children struggle with development in one or several of these areas. The disordered output of written language is currently referred to within the Diag nostic and Statistical Manual for Mental Disorders, Fifth Edition (DSM 5) as a specific learning disorder with impairment in writ ten expression (Table 52.3). Various terminology has been used when referring to individuals with writing deficits; this subchapter uses the term impairment in written expression (IWE) rather than writing disorder or disor der of written expression. Dysgraphia is often used when referring to children with writing problems, sometimes synonymously with IWE, though the two are related but distinct conditions. Dysgraphia is primarily a deficit in motor output (paperpencil skills), and IWE is a conceptual weakness in developing, organizing, and elaborating on ideas in writing. The diagnoses of IWE and dysgraphia are made largely based on phenotypical presentation; spelling, punctuation, grammar, clar ity, and organization are factors to consider with IWE concerns. Aside from these potentially weak writing characteristics, however, no other guidelines are offered. Based on clinical experience and research into the features of writing samples of children with disor dered writing skills, one would expect to see limited output, poor organization, repetition of content, and weak sentence structure and spelling despite the child taking considerable time to produce a small amount of content. For those with comorbid dysgraphia, the legibility of their writing product will also be poor, sometimes illegible. Table 52.3 DSM 5 Diagnostic Criteria for Specific Learning Disability with Impairment in Written Expression A. Difficulties learning and using academic skills that have persisted for at least 6 months, despite the provision of interventions that target those difficulties. Difficulties with written expression (e.g., makes multiple grammatical or punctuation errors within sentences; employs poor paragraph organization; written expression of ideas lacks clarity). B. |
632 | The affected academic skills are substantially and quantifiably below those expected for the individuals chronologic age and cause significant interference with academic or occupational performance or with activities of daily living, as confirmed by individually administered standardized achievement measures and comprehensive clinical assessment. For individuals age 17 years and older, a documented history of impairing learning difficulties may be substituted for the standardized assessment. C. The learning difficulties begin during school age years but may not become fully manifest until the demands for those affected academic skills exceed the individuals limited capacities (e.g., as in timed tests, reading or writing lengthy complex reports for a tight deadline, excessively heavy academic loads). D. The learning difficulties are not better accounted for by intellectual disabilities, uncorrected visual or auditory acuity, other mental or neurologic disorders, psychosocial adversity, lack of proficiency in the language of academic instruction, or inadequate educational instruction. 315.2 (F81.81) With impairment in written expression: Spelling accuracy Grammar and punctuation accuracy Clarity or organization of written expression Specify current severity: Mild: Some difficulties learning skills in one or two academic domains, but of mild enough severity that the individual may be able to compensate or function well when provided with appropriate accommodations or support services, especially during the school years. Moderate: Marked difficulties learning skills in one or more academic domains, so that the individual is unlikely to become proficient without some intervals of intensive and specialized teaching during the school years. Some accommodations or supportive services at least part of the day at school, in the workplace, or at home may be needed to complete activities accurately and efficiently. Severe: Severe difficulties learning skills, affecting several academic domains, so that the individual is unlikely to learn those skills without ongoing intensive individualized and specialized teaching for most of the school years. Even with an array of appropriate accommodations or services at home, at school, or in the workplace, the individual may not be able to complete all activities efficiently. From the Diagnostic and Statistical Manual of Mental Disorders, 5th ed. Washington, DC: American Psychiatric Association; 2013:6667. Table 52.1 Parent Resources for the Child with Math Learning Disability Lets Talk About Math. Available from http:www.zerotothree.orgp arenting resourcesearly math video series. Accessed September 19, 2021. Mixing in Math. Available from https:www.terc.edumixinginmath. Accessed September 19, 2021. PBS Parents. Math resources available to parents through the Public Broadcasting Service website. Accessed September 19, 2021. http:www.pbs.orgparentsearlymathindex.html http:www.pbs.orgparentseducationmath Understood: Math. Available from https:www.understood.orgtopi csenmath. U.S. Department of Education. Helping your child learn mathematics. Available from https:www2.ed.govparentsacadem ichelpmathindex.html. Accessed September 19, 2021. Table 52.2 Risk Factors for a Specific Learning Disability Involving Mathematics The child is at or below the 20th percentile in any math area, as reflected by standardized testing or ongoing measures of progress monitoring. The teacher expresses concerns about the childs ability to take the next step in math. There is a positive family history for math learning disability (this alone will not initiate an intervention). Parents think they have to reteach math |
633 | concepts to their child. Downloaded for mohamed ahmed (dr.mms2020gmail.com) at University of Southern California from ClinicalKey.com by Elsevier on April 20, 2024. For personal use only. No other uses without permission. Copyright 2024. Elsevier Inc. All rights reserved. 322 Part IV u Learning and Developmental Disorders EPIDEMIOLOGY The incidence of IWE is estimated at 6.914.7, with the relative risk for IWE 2.5 times higher for males than for females. The risk for writing problems is much greater among select populations; 50 of children with oral language disorders reportedly have IWE. The relationship between attention deficithyperactivity dis order (ADHD) and learning disorders in general is well established, including IWE estimates in the 60 range for the combined and inattentive presentations of ADHD. Because of the importance of working memory (WM) and other executive functions in the writ ing process, any child with weakness in these areas will likely find the writing process difficult (see Chapter 49). SKILL DEFICITS ASSOCIATED WITH IMPAIRED WRITING Written language, much like reading, occurs along a developmental trajectory that can be seamless as children master skills critical to the next step in the process. Mastery of motor control that allows a child to produce letters and letter sequences frees up cognitive energy to devote to spelling words and eventually stringing words into sentences, paragraphs, and complex composition. Early in the development of each individual skill, considerable cognitive effort is required, although ideally the lower level skills of motor produc tion, spelling, punctuation, and capitalization (referred to as writ ing mechanics or writing conventions) will gradually become automatic and require progressively less mental effort. This effort can then be devoted to higher level skills, such as planning, organi zation, application of knowledge, and use of varied vocabulary. For children with writing deficits, breakdowns can occur at one, some, or every stage. Transcription Among preschool and primary grade children, there is a wide range of what is considered developmentally typical as it relates to letter production and spelling. However, evidence indicates that poor writ ers in later grades are slow to produce letters and write their name in preschool and kindergarten. Weak early spelling and reading skills (let ter identification and phonologic awareness; see Chapter 51) and weak oral language have also been found to predict weak writing skills in later elementary grades. Children struggling to master early transcrip tion skills tend to write slowly, or when writing at reasonable speed, the legibility of their writing degrades. Output in quantity and variety is limited, and vocabulary use in poor spellers is often restricted to words they can spell. As children progress into upper elementary school and beyond, a new set of challenges arises. They are now expected to have mas tered lower level transcription skills, and the focus turns to the application of these skills to more complex text generation. In addi tion to transcription, this next step requires the integration of addi tional cognitive skills that have yet to be tapped by young learners. Oral Language Language, though |
634 | not speech, has been found to be related to writ ing skills. Writing difficulties are associated with deficits in both expression and comprehension of oral language. Writing character istics of children with specific language impairment (SLI) can dif fer from their unimpaired peers early in the school experience and persist through high school (see Chapter 53). In preschool and kin dergarten, as a group, children with language disorders show poorer letter production and ability to print their name. Poor spelling and weak vocabulary also contribute to the poor writing skills. Beyond primary grades, the written narratives of SLI children tend to be evaluated as lower quality with poor organization and weaker use of varied vocabulary. Pragmatic language and higher level language deficits also nega tively affect writing skills. Pragmatic language refers to the social use of language, including though not limited to greeting and mak ing requests, adjustments to language used to meet the need of the situation or listener, and following conversation rules verbally and nonverbally. Higher level language goes beyond basic vocabulary, word form, and grammatical skills and includes making inferences, understanding and appropriately using figurative language, and making cause and effect judgments. Weaknesses in these areas, with or without intact foundational language, can present challenges for students in all academic areas that require writing. For example, whether producing an analytic or narrative piece, the writer must understand the extent of the readers background knowledge and in turn what information to include and omit, make an argument for a cause and effect relationship, and use content specific vocabulary or vocabulary rich in imagery and nonliteral interpretation. Executive Functions Writing is a complicated process and, when done well, requires the effective integration of multiple processes. Executive functions (EFs) are a set of skills that include planning, problem solving, monitoring, and adjusting as needed (see Chapter 49). Three recursive processes have consistently been reported as involved in the writing process: translation of thought into written output, planning, and reviewing. Coming up with ideas, although challenging for many, is simply the first step when writing a narrative (story). Once an idea has emerged, the concept must be developed to include a plot, characters, and sto ryline and then coordinated into a coherent whole that is well orga nized and flows from beginning to end. Even if one develops ideas and begins to write them down, persistence is required to complete the task, which requires self regulation. Effective writers rely heavily on EFs, and children with IWE struggle with this set of skills. Poor writers seldom engage in the necessary planning and struggle to self monitor and revise effectively. Working Memory WM refers to the ability to hold, manipulate, and store informa tion for short periods. The more space available, the more memory can be devoted to problem solving and thinking tasks. Neverthe less, there is limited space in which information can be held, and the more effort devoted to one task, the less space is available to devote to other tasks. |
635 | WM has consistently been shown to play an important role in the writing process, because weak WM limits the Text Generation (Words, sentences, discourse) Transcription Executive Functions (Handwriting, keyboarding, spelling) (Conscious attention, planning, reviewing, revising, strategies for selfregulation) Working Memory Fig. 52.1 Simple view of writing. (From Berninger VW. Preventing written expression disabilities through early and continuing assessment and intervention for handwriting andor spelling problems: Research into practice. In: Swanson HL, Harris KR, Graham S eds. Handbook of Learning Disabilities. New York: The Guilford Press;2003.) Downloaded for mohamed ahmed (dr.mms2020gmail.com) at University of Southern California from ClinicalKey.com by Elsevier on April 20, 2024. For personal use only. No other uses without permission. Copyright 2024. Elsevier Inc. All rights reserved. Chapter 52 u Math and Writing Disabilities 323 space available. Further, when writing skills that are expected to be automatic continue to require effort, precious memory is required, taking away what would otherwise be available for higher level language. The Simple View of Writing is an approach that integrates each of the four ideas just outlined to describe the writing process (Fig. 52.1). At the base of the triangle are transcription and EFs, which support, within WM, the ability to produce text. Breakdowns in any of these areas can lead to poor writing, and identifying where the deficit(s) are occurring is essential when deciding to treat the writing problem. For example, children with weak graphomo tor skills (e.g., dysgraphia) must devote considerable effort to the accurate production of written language, thereby increasing WM use devoted to lower level transcription and limiting memory that can be used for developing discourse. The result might be painfully slow production of a legible story or a passage that is largely illeg ible. If, on the other hand, a childs penmanship and spelling have developed well but their ability to persist with challenging tasks or to organize their thoughts and develop a coordinated plan for their paper is limited, one might see very little information written on the paper despite considerable time devoted to the task. Lastly, even when skills residing at the base of this triangle are in place, stu dents with a language disorder will likely produce text that is more consistent with their language functioning than their chronologic grade or age. TREATMENT Poor writing skills can improve with effective treatment. Weak graphomotor skills may not necessarily require intervention from an occupational therapist (OT), although Handwriting Without Tears is a curriculum frequently used by OTs when working with children with poor penmanship. An empirically supported writ ing program has been developed by Berninger, but it is not widely used inside or outside school systems (PAL Research Based Reading and Writing Lessons). Her research suggests that for children with dysgraphia, lower level transcription skills should be emphasized to the point of becoming automatic. The connection between tran scription skills and composition should be included in the instruc tional process; that is, children need to see how their work at letter production is related to broader |
636 | components of writing. Further, because of WM constraints that frequently affect the instructional process for students with learning disorders, all components of writing should be taught within the same lesson. Building upon Berningers sequencing of skills, Otaiba, Gillespie Rouse, and Baker summarized features of effective handwriting instruction for kids who struggle: direct instruction on letter formation that is modeled and followed using verbal and visual instruction; retrieving letters from memory using such strategies as a child viewing the letter, covering, and reproducing the letter; children identifying their own errors; newly learned letters are integrated into word and sentence context and then into a childs own writing product; integration of multisensory strategies; and handwriting interventions included practice, occurred regularly, and were relatively brief but meaning ful (children learned that writing had a purpose beyond accurately producing letters). Explicit instruction of writing composition strategies combined with implementation and coaching in self regulation will likely pro duce the greatest gains for students with writing deficits beyond transcription. Emphasis will vary depending on the deficit specific to the child. A well researched and well supported intervention for poor writers is self regulated strategy development (SRSD). The six stages in this model include developing and activating a childs background knowledge, introducing and discussing the strategy that is being taught, modeling the strategy for the student, assisting the child in memorization of the strategy, supporting the childs use of the strategy during implementation, and independent use of the strategy. SRSD can be applied across various writing situations and is supported until the student has developed mastery. The model can emphasize the areas most needed by the child. An additional excellent resource is entitled Teaching Elementary School Students to Be Effective Writers and is found within the What Works Clearinghouse maintained by the U.S. Department of Educa tions Institute of Education Science. Educational Resources Children with identified learning disorders can potentially qualify for formal education programming through special education or a Sec tion 504 plan. Special education is guided on a federal level by the Individual with Disabilities Education Act (IDEA) and includes development of an individual education plan (IEP) (see Chapter 49). The processes involved in pursuing an IEP are somewhat complex and outlined in the chapter on math learning disability (MLD). A 504 plan provides accommodations to help children succeed in the regular classroom. Accommodations that might be provided to a child with IWE, through an IEP or a 504 plan, include dictation to a scribe when confronted with lengthy writing tasks; additional time to complete exams that require writing; and use of technology such as keyboard ing, speech to text software, and writing devices that record teacher instruction. Speech to text capability is available on most smartphones, which can be helpful for students from a functional standpoint. Educational resources that can be accessed inside and outside the classroom are often readily available for all children but may need to be included as an accommodation for a child with dysgraphia. Examples of easily available software |
637 | include Voice Dictation in Google Docs and Dictation in Microsoft Word, both available at no cost. More sophisticated apps that can be purchased include Co:Writer for Chrome, Read Write, and Kurzweil 3000. Kurzweil 3000 is a comprehensive assistive technology device that, in addi tion to speech to text and text to speech, offers multiple valuable resources for students with any type of literacy based learning dis ability. Editing is a critical component of the writing process and, for children struggling with written expression, can present quite a challenge. Microsoft Word has built in spelling and grammar cor rection suggestions, as do other word processing programs such as Pages and Google Docs. Apps for use when using the internet are also available to help with spelling, grammar, and writing mechan ics. One examplethough there are othersis Grammarly. When recommending that parents pursue assistive technology for their child as a potential accommodation, the physician should empha size the importance of instruction to mastery of the device being used. Learning to use technology effectively requires considerable time and is initially likely to require additional effort, which can result in frustration and avoidance. Visit Elsevier eBooks at eBooks.Health.Elsevier.com for Bibliography. Downloaded for mohamed ahmed (dr.mms2020gmail.com) at University of Southern California from ClinicalKey.com by Elsevier on April 20, 2024. For personal use only. No other uses without permission. Copyright 2024. Elsevier Inc. All rights reserved. 324 Part IV u Learning and Developmental Disorders There are over 6,000 languages in the world, each with a distinct set of symbols, defined as words or signs that signify objects, actions, ideas, or relationships. By combining symbols in novel ways, humans can create an infinite number of meanings. Human communication (Table 53.1) encompasses language, speech, nonverbal gestures, and written language. Typically developing children learn language skills seemingly without effort or explicit education early in the course of development. However, there is wide variation in how and when children learn and use language, speech, and communication. Globally, families differ in the specific languages and number of languages they speak and in the ways in which they communicate to convey their beliefs, values, and circumstances. Children vary in their rates of learning language and the highest level of skills they attain. Milestones within each domain (language, speech, communication) signify the unfolding steps by which new structures and skills come into childrens language abili ties (Table 53.2 and Fig. 53.1). Some children require explicit educa tion or clinical support to learn language or to make their speech easily interpretable. TYPICAL DEVELOPMENT Development of Phonology Every language is made up of an inventory of speech sounds or pho nemes (see Table 53.1), and the number of speech sounds varies across languages (e.g., Hawaiian 13, Cantonese more than 36, English 46). Speech perception depends on the physical structures of the ear and the auditory processing system. Fetuses detect sound as early as 28 weeks gestation, and within 5 days after birth, infants can demonstrate the ability to discriminate vowel sounds (i.e., English vs Swedish) |
638 | and show preferences for their own prenatal monolingual or bilingual lan guage environments (i.e., English vs Tagalog English). Infants develop their speech sound perception, built on the ability to track the statisti cal probabilities of sound combinations (e.g., b a is more prevalent in language than b d), segment sounds and words from a stream of speech, and become attuned to the speech sounds in their respective language or languages. Older children or adults learning a new lan guage need to learn a new speech sound inventory. Speech production involves activating the physical structures of the respiratory tract and oral cavity, such as the lips, tongue, and vocal cords, all of which work in concert. Infants begin producing nonspeech cooing sounds at 4 6 weeks. By 6 8 months, many infants engage in canonical babbling (e.g., bababa) followed by variegated babbling (e.g., badadeda). Infants who are exposed to sign language from birth dem onstrate manual babbles at around the same time as hearing infants begin vocal babbles. These skills lay the stage for infants first words and subsequent word combinations. Speech production continues to develop throughout early childhood, with easier consonant sounds maturing early, around age 3 (e.g., in English p, b, m, h, w) and dif ficult sounds (e.g., in English l, s, r, v, ch, th) maturing late, typically by around age 7. Development of the Lexicon, Morphology, and Syntax It is difficult to pinpoint when in development children typically understand their first word, but many children may say their first words by around 1 year; English speaking families in the United States report first words appearing as young as 7 and as late as 15 months. Childrens first words mark their expressive skills in their lexicon (see Table 53.1), and first words may come from a variety of categories (e.g., people, objects, and greetings). Many children recognize their own name between 7 and 15 months old. Initial word learning is typically very slow, but the rate of acquisition of new words gradually acceler ates. Expressive lexical errors are common at this age and can include overextensions (e.g., all edible objects are apples) or underextensions (e.g., only one specific spoon is labeled spoon). Between 1 and 2 years, children build a lexicon of over 50 words. The vocabulary spurt is rapid acceleration in word learning, usually after children reach 50 words in expressive language and coincident with the beginning of two word phrases. By approximately 2 years, children begin to demonstrate their devel oping understanding of morphology and syntax (see Table 53.1). Morphology and syntax rules differ by language. Childrens receptive syntax skills are evident when they can follow simple directions or answer wh questions. Notable expressive morphologic milestones in English include the use of the present progressive tense (e.g., go ing) and the plural s (e.g., dog s). Expressive syntax skills are evident via childrens early creative word combinations, starting with two word combinations, which are likely to vary from adult models (e.g., in Eng lish me |
639 | down! or ick eggs!). By 3 years, children begin to produce sentences as long as five words and with increasingly complex gram mar, such as negation (e.g., in English I no want to) and questions (e.g., What he do?). As in these examples, lexical, morphologic, and or syntax errors in understanding and production are common dur ing this early phase of syntactic development. Morphologic or syntax errors in production may consist of overgeneralizations (e.g., in Eng lish, generalizing the ed ending to all verbs such as runned rather than ran; in Spanish, Italian, or French, using the masculine articles with feminine nouns). By 4 5 years, children are able to use sentences with adult like grammar (e.g., in English I fell because I was running too fast. ), although they may still make mistakes (e.g., in English I gots 1 game and he got 3 games.). Children also engage in longer, coherent, connected discourse, such as telling or retelling stories and recounting the steps of a familiar activity, such as taking a bath. Development of Pragmatics Pragmatic skills begin in infancy. The ability to attend to and follow anothers eye gaze develops as early as 3 4 months old. As young as 3 months old, children can engage in protoconversations, turn taking patterns with caregivers that resemble early conversations. Respon sive, contingent interactions between caregivers and children provide infants the opportunity to experience, imitate, and practice the timing, rhythm, and rate of nonverbal pragmatic skills, such as facial expres sions, body language, and intonation. By 6 months, many infants can passively follow the adults line of visual regard, resulting in a joint ref erence to the same objects and events in the environment. The ability to share the same experience is critical to the development of further language, social, and cognitive skills as infants map specific meanings onto their experiences. By 10 13 months, many infants can actively show, give, and point to objects. Children vary widely in when these skills first appear; English speaking families have reported pointing skills as early as 6 months and as late as 16 months. An important facet of typical communication development and a building block of conversational turn taking skills includes establish ing a joint focus of attention, a sharing of the topic of conversation with a communicative partner, both in comprehension (e.g., infants turn their heads to the object an adult is pointing at) and in production (e.g., a child saying look at that dog over there, then looking back at their caregiver and expressing a desire for a dog). Conversation skills are important for forming relationships and especially strong social bonds and friendships. As children reach school age and adolescence, they develop nonliteral or figurative language skills (see Table 53.1), including hints, idioms, metaphors, hyperbole, humor, and sarcasm. In lexical development, understanding often occurs before production; in childrens humor development, childrens production may precede full understanding of their meaning. Another notable milestone of Chapter 53 Language Development and Communication Disorders Janet |
640 | Y. Bang and Heidi M. Feldman Downloaded for mohamed ahmed (dr.mms2020gmail.com) at University of Southern California from ClinicalKey.com by Elsevier on April 20, 2024. For personal use only. No other uses without permission. Copyright 2024. Elsevier Inc. All rights reserved. Chapter 53 u Language Development and Communication Disorders 325 Table 53.1 Definitions of Basic Terms in Communication, Language, and Speech TERM DEFINITION EXAMPLES Communication Broad umbrella term that encompasses understanding and producing language, speech, nonverbal communicative gestures, and written language Humans share ideas using verbal or signed speech and language Nonverbal communicative gestures include nodding ones head up and down to convey yes in some cultures Language Verbal, signed, written, or other systems that use arbitrary but conventional, rule governed symbols to communicate about objects, events, and ideas in the past, present, and future Verbal symbols include words (e.g., apple in English or manzana in Spanish, both of which represent a red, tasty fruit) Signed symbols include the word apple in American Sign Language, produced by the twist of the knuckle of the index finger on the cheek Speech Perception of the meaningful units of sounds that comprise verbal language and production of these sounds by coordinating the mouth, tongue, airflow, and vibration of the vocal folds Speech sounds or phonemes make a difference in meaning (e.g., b, p, a, i, and t affect the meaning of bat, bit, pat, and pit) Speech does not include all vocal sounds, such as coughs or throat clearing Phonemes in sign language are based on spatial, temporal features, such as hand shape Receptive language Hearing and understanding verbal or sign language Recognizing own name Following two step directions Expressive language Speaking using verbal or sign language Speaking first words or signs in a sign language Telling stories Phonology The system of relationships among speech sounds or phonemes that constitute a fundamental component of language Understanding seetheredball can be segmented into see the red ball Babbling, consonant vowel combinations that use phonemes Lexicon All of the words or vocabulary of a person or a language The lexicon of the mathematician may vary from the lexicon of the lawyer Morphology Units of meaning that can be combined to form vocabulary In English dogs is made of two morphemes, dog and the plural s; untie is made of un and tie Syntax Grammar and word order to make sentences In English word order, the dog chases the cat, while in Hindi word order, the cat the dog chases Pragmatics Verbal and nonverbal communication skills that govern how language and communication are used in context Includes intonation, facial expression, and body language Use of eye contact and gestures to make a point forcefully The timing and responsiveness between communication partners (e.g., engaging, responding, and maintaining reciprocal exchanges) Nonliteral or figurative language skill Meaning of a word or phrase that is not literal but understood in context Hints (e.g., a teacher saying, I think I hear children talking) Idioms (e.g., Give me a hand) Metaphor (e.g., You are |
641 | my sunshine) Hyperbole (e.g., Thats the biggest thing Ive ever seen!) Advanced language skills Ability to listen, speak, read, write, and reason using language Academic language Ability to debate and deliver speeches Literacy skills Skills required for reading and writing Reading an alphabetic language requires awareness of the sounds of language, print, and the relationship between letters and sounds Spelling is a literacy skill Bilingualism and multilingualism Ability to speak andor sign two or more languages Ability to communicate verbally in Chinese and English Ability to communicate verbally in English and to use American Sign Language Ability to use Chinese, English, and American Sign Language Biliteracy and multiliteracy Ability to read and write in two or more languages Ability to read and write Chinese, Spanish, and English Phonologic processes Errors in speech production that affect more than a single sound and are based on violations of predictable, rule based features Fronting, when a sound that should be made in the back of the mouth (cat) is made in the front of the mouth (tat) Cluster reduction, when a consonant cluster (as in stop) is reduced to a single consonant (top) Downloaded for mohamed ahmed (dr.mms2020gmail.com) at University of Southern California from ClinicalKey.com by Elsevier on April 20, 2024. For personal use only. No other uses without permission. Copyright 2024. Elsevier Inc. All rights reserved. 326 Part IV u Learning and Developmental Disorders pragmatic skills is the ability to adapt how to narrate events or stories for different audiences (e.g., friends vs teachers). Advanced Language Skills Once children enter school, they continue to develop new vocabulary and use increasingly complex sentence constructions to communicate about abstract, hypothetical, and imaginary topics. By adolescence, many students in Westernized school systems are required to deliver expository speeches or to debate. Formal schooling also affords new situations to communicate with a broader network of individuals, including teachers, coaches, and supervisors. The diversity of the situ ations requires nuanced attention to social rules and conventions and increases exposure to diverse forms of nonliteral language use, though proficiency in the use of nonliteral language varies by the language and culture of the speaker and addressee. Finally, the introduction of formal schooling presents children with the demands of acquiring Table 53.2 Speech, Language, and Communication Milestones from Birth to 5 Years, Based on Typically Developing Children Acquiring a Single Verbal Language HEARING AND UNDERSTANDING SPEAKING BIRTH TO 3 MO Startles at loud sounds Recognizes voices and quiets if crying Turns head toward sounds Watches faces Quiets or smiles when spoken to Makes pleasure sounds (cooing, gooing) Cries differently for different needs 4 6 MO Moves eyes in direction of sounds Responds to changes in tone of voice Notices music and sounds Recognizes familiar people and things at a distance Vocalizes differently to show excitement, being tired, or in pain Makes sounds when alone and when playing Makes babbling sounds that are speechlike and uses consonant sounds, such as p, b, and m Reaches for toys or objects Engages |
642 | in turn taking and protoconversations 7 12 MO Listens when spoken to Turns and looks in direction of sounds Enjoys social games, such as peek a boo and pat a cake Responds to own name Recognizes words for common items, such as cup, shoe, and juice Begins to respond to simple requests (Come here; Want more?) or No Looks when an adult points at something Uses speech sounds or gestures to get and keep attention and to respond to others Imitates different speech sounds and gestures Babbles with long and short groups of sounds, such as bababa upup bibi, and mixes different syllables, such as badadeda Says one or two words (bye bye, dada, mama) Points to or shows things to spontaneously share interest with familiar people Uses gestures such as waving for hi and bye or shaking head for no 1 2 YR Listens to simple stories, songs, and rhymes Follows simple commands and understands simple questions (Roll the ball; Kiss the baby; Wheres your shoe?) Points to things when asked or when named such as body parts and objects Learns to say more words every month Uses some one and two word questions (Where kitty? Go bye bye? Whats that?) Combines two words in their own ways (more cookie, no juice, mommy book) Uses consonant sounds such as p, b, m, h, and w in English 2 3 YR Understands differences in meaning (e.g., gostop, inon, biglittle, updown) Follows two step requests (Get the book and put it on the table.) Often asks for or directs attention to objects by naming them Has a word for almost everything Uses prepositions like in, on, and under Often uses two to three word sentences Speech is mostly understood by familiar listeners Uses consonant sounds such as k, g, f, t, d, and n in English 3 4 YR Understands simple who, what, where, and why questions Understands words for colors like red, blue, or green and shapes like circle or square Responds when you call from another room Uses pronouns like I, you, me, we, and they Uses sentences that have four or more words with more complex grammar such as negative (I no want to) and questions Talks about activities outside the home Usually understood by people outside the family 4 5 YR Hears and understands most of what is said at home and in school Pays attention to a short story and answers simple questions about it Understands words for time like yesterday, today, and tomorrow Understands words for order like first, next, and last Follows longer directions such as (Find an animal you like, draw a circle around it, and bring the paper to me) Uses sentences that include details (I like to read my books) and different action words like jump or play; may still make some grammar mistakes (I gots one game and he got three games) Tells simple stories using mostly full sentences Communicates easily with other children and adults Says most sounds correctly |
643 | except a few that are harder to say, such as l, s, r, v, z, ch, sh, and th in English Milestones may not apply to bilingual children, children exposed to sign languages, children learning a second language, and children with language and learning disorders For Spanish translations and more information, including activities for families: American Speech Language Hearing Association: http:www.asha.orgpublicspeechdevelopmentchart.htm The American Academy of Pediatrics: https:healthychildren.orgEnglishPagesdefault.aspx Centers for Disease Control and Prevention Milestones checklist: https:www.cdc.govncbdddactearlymilestonesindex.html Adapted from the American SpeechLanguageHearing Association (2021), the American Academy of Pediatrics (2009), and the Centers for Disease Control and Prevention Milestones checklist (2021). Downloaded for mohamed ahmed (dr.mms2020gmail.com) at University of Southern California from ClinicalKey.com by Elsevier on April 20, 2024. For personal use only. No other uses without permission. Copyright 2024. Elsevier Inc. All rights reserved. Chapter 53 u Language Development and Communication Disorders 327 literacy skills (see Table 53.1), those skills required for reading and writing. Early oral language skills are a robust predictor of childrens early reading skills, and early oral language and reading skills are in turn predictors of childrens writing skills (see Chapters 51 and 52.2). Language skills become critical to support high level school and work related literacy skills. BILINGUALISM AND MULTILINGUALISM Worldwide, learning more than one language is more common than learning just one; many regions and countries in the world are home to individuals who routinely speak two or more languages. The tim ing of exposure, balance between languages, and level of skill in each language in dual language or multilanguage learners varies across sit uations. Simultaneous bilinguals refers to those regularly exposed to both languages prenatally or from birth. Sequential bilinguals refers to those exposed to the second language after the first language, often when they enter school, though the timing of when the second lan guage is introduced varies. Once children learn two languages, the balance in skill level between them may vary. For example, a child who was born in Nigeria, exposed to Igbo, and then immigrated to Greece at age 5 years will initially be more proficient in Igbo than in Greek. As the child attends school in Greece, Greek proficiency will improve (likely also supported through the introduction of reading and writing in a Greek monolingual school environment), and thus the balance will shift and the child may become more proficient in Greek over Igbo. A high level of skill across all domains of phonol ogy, lexicon, syntax, and pragmatics is considered an ideal picture of bilingualism, but this ideal is not always the case or necessary for many bilingual learners. Bilingual learners often demonstrate code switching, that is, alternating between languages, or code mixing, mixing their languages together, especially when speaking with other bilingual speakers. A distinction between conversational and academic language skills may be made in reference to bilinguals. Bilingual speakers may master conversational language, the language used to communicate casually with family or friends, but remain less skilled in academic language, the complex, technical, and special ized |
644 | vocabulary and syntax required in academic or work settings, particularly when school is presented in a language different from the language of the home. Some bilingual learners may experience language attrition, a reduction in the proficiency in one language over time. Factors within the child, family (e.g., one caregiverone language, caregivers speaking both languages), community (e.g., availability of bilingual schooling, minority vs majority language of the community, perceived prestige of a language), and policy (e.g., national acknowledgement of multiple languages or requirements of accessibility of documents in school or business sectors) contribute to proficiency in both languages. Bilingualism or multilingualism is typical language development for many children and not an adequate explanation for language delays as long as the childs skills in both languages are assessed. Even children with language and developmental disorders, such as intellectual dis ability and autism spectrum disorder, may be successful bilingual or multilanguage learners. It is difficult to predict developmental trajec tories in bilingual development because of the wide variety of factors associated with the level of skill in different domains. Children in homes with two or more languages who show delays in language development (considering the accumulated accomplishments in all languages) should be promptly referred for evaluation. Expose child to different words, different sentences, and varying sentence complexity Ask questions, converse about the past and future, engage child about what they see, hear, feel, and think in different situations Caregiver and educator strategies to support language development Provide warmth and responsiveness Engage with and imitate childs speech and gestures Provide positive interactions, follow into childs focus of attentioninterests, use appropriately complex speech for childs level of understanding Watches faces, smiling Joint attention, pointing, showing Asks for or directs others attention to objects Narratives, scripts, story retell, connected discourse ConversationsProtoconversations, social games Pragmatics Childrens early language, speech, and communication skills Lexicon morphology syntax Understands questions and words for time, follows longer directions Follows 2step requests Understands own name, new words, responds to simple requests Produces first words Combines two words in own ways Uses more complex grammar such as ing, s, in, on, under Uses increasingly complex sentences with varying lengths Uses pronouns, questions, negative statements Babbling Speech perception Phonology 0 Uses consonant sounds such as p, b, m, h, and w in English Uses consonant sounds such as k, g, f, t, d, and n in English Still developing more difficult sounds such as as l, s, r, v, ch, and th in English Child age (months) 12 24 4836 60 Fig. 53.1 Timeline of childrens early language, speech, and communication skills and caregivers and educators strategies to support that devel opment. The timing and width of boxes for the child skills are adapted from milestones from the American Speech Language Hearing Association, The American Academy of Pediatrics, and the Centers for Disease Control and Prevention. More information on milestones can also be seen in Table 53.1. Caregivers and educators should be encouraged to engage with the child using the language with which they |
645 | are most comfortable because children, even children with delays, are capable of becoming bilingual. Specific child skills and caregivereducator strategies may vary according to language and cultural practices. Downloaded for mohamed ahmed (dr.mms2020gmail.com) at University of Southern California from ClinicalKey.com by Elsevier on April 20, 2024. For personal use only. No other uses without permission. Copyright 2024. Elsevier Inc. All rights reserved. 328 Part IV u Learning and Developmental Disorders DRIVERS OF VARIATION IN TYPICAL LANGUAGE DEVELOPMENT Genetic Similarities in language abilities across members of the same family suggest that genetic factors contribute to individual differences in lan guage abilities. Genetic factors have been studied more often in the context of disorders of language learning than in the context of normal variation (see below). Environment Interactions between young children and their caregivers that are posi tive, responsive, and warm allow children to practice their early word learning (e.g., social games, routines). Living in stable home environ ments is better for language development than living in an unstable condition. The Bucharest Early Intervention Project conducted a ran domized controlled trial to examine the role of being raised in a home (foster care) versus in institutionalized care in Romanian orphanages that were providing infants with low levels of responsive interactions. Children taken from the orphanages and placed in foster care by age 15 months had language skills that were similar to typically develop ing peers at 30 and 42 months in the same Romanian community liv ing with their biologic families; children placed in foster care after 24 months had persistent expressive language delays. The role of caregivers specifically is one of the few levers available to influence language outcomes in clinical practice and public pro grams. Positive links have been found between variability in socioeco nomic backgrounds and childrens later language skills; caregivers have been shown to mediate this link. Caregivers child directed speech refers to changes to caregivers prosody (intonation patterns), pho nology, grammar, and lexicon when engaging with young children. This child directed speech has been measured across a wide variety of features, which can be broadly categorized into measures of quantity (e.g., total number of words spoken), quality (e.g., number of differ ent words spoken), and interaction (e.g., warmth and responsiveness). Taken together, these factors constitute language nutrition, which, like dietary nutrition, is associated with rates of growth. However, the causal links between caregivers child directed speech and childrens language outcomes are still unclear in children with typical develop ment or language delays or disorders. Meta analyses of interventions targeting improved language nutrition to date have generally reported either null effects or small to moderate positive effects on childrens language skills. The specific role of book sharing interventions to sup port childrens language development is also mixed among different meta analyses. Wide heterogeneity across intervention studies, includ ing the method of delivery (e.g., one on one coaching vs caregiver groups), intensity (e.g., 1 hour per week for 12 weeks vs two 45 minute visits), measures of caregiver child |
646 | interaction, and child language outcomes, may contribute to differences in results. Caregivers mental health has been found to be an important mediator of child outcomes; higher caregiver depression has been linked to poorer childrens lan guage outcomes. Greater amounts of screen time and early age of screen time are negatively related to childrens early language skills. However, high quality screen time practices (e.g., co viewing, educational programs) are positively related to childrens language skills; effect sizes are small to moderate. Misattributions of Language Delay Several common conditions have been erroneously implicated as an adequate explanation for language delays and disorders. Typically developing twins learn to talk at the same age as typically developing single born children. Birth order effects on language development have not been consistently found. Ankyloglossia (tongue tie), an extremely tight lingual frenulum, does not prevent the acquisition of speech, but ankyloglossia may be the result of abnormalities associ ated with disorders of speech, such as neural injury and cerebral palsy. Frequent ear infections and serous otitis media in early childhood do not result in persisting language disorder. Prompt placement of tym panostomy tubes for chronic serous otitis media does not lead to better skills than watchful waiting. Biologic sex differences have been found in many studies of language development. Though males are generally slower to develop than females, the differences do not usually rise to the level of being clinically apparent. However, males are more likely to develop language disorders than females. Based on these findings, children with moderate to severe delays in the development of language and speech deserve a prompt evaluation, even if they are males, nonfirst born children, twins, tongue tied toddlers, andor children with chronic otitis media. LANGUAGE, SPEECH, AND COMMUNICATION DISORDERS Impairment in language, speech, and communication may occur in isolation or may be associated with other conditions. Isolated Language Disorders with or Without Accompanying Speech Disorders Clinical Presentation Primary disorders of speech and language development are significant difficulties found in the absence of major cognitive, sensory, or motor dysfunction. The literature uses the term specific language impair ment (SLI) or language impairment, the term we use here, also called developmental language disorder or developmental dysphasia. Chil dren with language impairment typically perform 1.25 1.5 standard deviations below the mean on standardized language assessments. The Diagnostic and Statistical Manual for Mental Disorders, Fifth Edition (DSM 5) criteria for a language disorder are provided in Table 53.3. Many children with language impairment eventually become com petent language users, though they may show persistent and subtle difficulties with skills related to phonology, lexicon, andor syntax. As adolescents and adults, compared to peers, they are generally less proficient at producing stories, descriptions, and scripts of everyday events, collectively known as oral narratives. Their narratives tend to be shorter, including fewer prepositions, main story ideas, and devices fostering cohesion. Children with language impairment may have significant difficulty in higher level language skills (see Table 53.1), reasoning skills (e.g., drawing correct inferences and conclusions), the ability to |
647 | take another persons perspective, and the ability to para phrase and rephrase. Some children with language impairment show difficulties with social interaction because social interactions are often mediated by verbal language. Young children with language impair ment may interact more successfully with older children or adults, who can adapt their communication to match the childs level of function, than with peers. Epidemiology Over 15 of 2 year olds may not produce a vocabulary of 50 words or two word utterances; estimates may vary for children exposed to two or more languages. Almost half of preschool age children, age 3 5 years old, who qualify for special education meet eligibility based only on speech language impairment. By age 5, approximately 6 of children are identified as having a speech impairment alone, 5 as having both speech and language impairment, and 8 as having language impair ment alone. Males are nearly twice as likely to have an identified speech or language impairment as females. Etiology Genetic factors appear to play a major role in influencing how children learn to talk. A family history may identify current or past speech or language problems in up to 30 of first degree relatives of proband children. Concordance rate for low language test scores andor a his tory of speech therapy within twin pairs is about 50 in dizygotic pairs and 90 in monozygotic pairs. Consistent pathogenic genetic variations have not been identified. Instead, multiple genetic regions and epigenetic changes may result in heterogeneous genetic pathways causing language disorders. Several single nucleotide polymorphisms (SNPs) involving noncoding regulatory genes, including CNTNAP2 (contactin associated protein like 2) and KIAA0319, are strongly associated with early language acquisition and are also thought to Downloaded for mohamed ahmed (dr.mms2020gmail.com) at University of Southern California from ClinicalKey.com by Elsevier on April 20, 2024. For personal use only. No other uses without permission. Copyright 2024. Elsevier Inc. All rights reserved. Chapter 53 u Language Development and Communication Disorders 329 affect early neuronal structural development. Several chromosomal copy number variants (see Chapter 96) have also been associated with abnormalities of language and speech; these variants may be associ ated with distinctive physical features (e.g., tall stature in Klinefelter syndrome) or neurobehavioral conditions (e.g., autistic features). Environmental, hormonal, and nutritional factors may exert epigen etic influences by dysregulating gene expression. These forces result in aberrant sequencing of the onset, growth, and timing of language development. All of the family, community, and sociopolitical factors that appear to contribute to variation in typical language learning may contribute to the rate of learning in children with disorders. Improving the quality of the verbal environment, and in particular the quantity and quality of child directed speech (see above), may moderate the impact of genetic and epigenetic factors. Pathogenesis Language functioning is widely distributed across the brain through interconnected neural networks. Frank neurologic injury is typically absent in children with language impairment. Language disorders have been attributed to a fundamental difficulty in the brains capacity to process complex information rapidly. |
648 | Limitations in the amount of information that can be stored in verbal working memory (see Chapter 49) may also limit the rate at which language information is processed. Electrophysiologic studies show abnormal latency in the early phase of auditory processing in children with language impairment. Neuroim aging studies identify an array of anatomic abnormalities, implicated in language processing. MRI scans in children with language impair ment may reveal white matter lesions and volume loss, ventricular enlargement, focal gray matter heterotopia within the right and left parietotemporal white matter, abnormal morphology of the inferior frontal gyrus, atypical patterns of asymmetry of language cortex, or increased thickness of the corpus callosum in a minority of affected children. Postmortem studies of children with language disorders found evidence of atypical symmetry in the plana temporale and corti cal dysplasia in the region of the sylvian fissure. A high rate of atypical perisylvian asymmetries has been documented in the parents of chil dren with language impairment. Language Disorders Associated with Cognitive Impairment and Intellectual Disability Speech and language impairment may be the first indication of a global neurodevelopmental disorder. Global developmental delay or early developmental impairment is defined as delays in two or more domains. Children with substantial delays in adaptive function and scores 2 or more standard deviations below the mean on intelligence testing may meet criteria for intellectual disability (see Chapter 56). Most children with a mild intellectual disability learn to communi cate adequately, though they are likely to encounter difficulties with higher level language skills (see Table 53.1). Children with an IQ as low as 25 may eventually acquire a small lexicon and ability to combine words. Specific genetic syndromes have distinctive language profiles: in Down syndrome, verbal skills are more impaired than nonverbal skills; in William syndrome, language skills may be relatively preserved compared to nonverbal skills; in fragile X syndrome, unusual word or sound repetition may be present. Autism Spectrum Disorder A disordered pattern of language, speech, and communication devel opment characterizes autism spectrum disorder (ASD) (see Chapter 58). The core characteristics of ASD are persistent difficulties in social communication and social interaction relative to age expectations and restricted, repetitive patterns of behavior, interests, or activities. Chil dren with ASD show a wide range of language and communication abilities. At the severe end, language and speech may be extremely limited (nonverbal). Approximately 3050 of children with ASD also meet criteria for intellectual disability, which contributes to the chal lenges of developing communication skills. Parents report regression in language and social skills (autistic regression) in approximately 2025 of children with ASD, usually between 12 and 36 months of age. The cause of the regression is not known; it is associated with an increased risk for intellectual disability and severe ASD. Individu als with ASD who are high functioning may have large vocabularies and use grammatically correct sentences but have unusual or impaired social pragmatic features, such as odd intonation patterns, off topic comments, and atypical conversational skills. For example, they may |
649 | engage in long monologues about a topic of special interest, without considering the interest of their conversational partner. Some individ uals with ASD have highly specialized, isolated, savant skills, such as calendar calculations or hyperlexia (the precocious ability to recog nize written words beyond expectation based on general intellectual ability). DSM 5 identified social (pragmatic) communication disorder (SPCD) as a category of communication disorder distinct from ASD (see Table 53.3). Symptoms of SPCD include extreme literalness and inappropriate verbal and social interactions. Socially appropriate use and understanding of figurative language (see Table 53.1) depends on correct interpretation of the meaning and the context of language and the ability to draw proper inferences, skills limited in SPCD. SPCD has been recognized as a symptom of a wide range of disorders, including right hemisphere brain injury and nonverbal learning disabilities. Hearing Impairment Hearing loss may be caused by a sensorineural loss, a conductive loss, or a mixed picture in one or both ears. Although it is not possible to accurately predict the impact of hearing loss on a childs verbal lan guage development, the type, degree, and laterality of hearing loss; the age of onset; and the duration of the auditory impairment before amplification play important roles (see Chapter 55). Newborn screen ing programs are designed to identify congenital hearing loss but fail to identify children with progressive or acquired hearing loss or deafness after birth. Any child who shows a speech or language problem should have a hearing assessment by an audiologist, even if they passed their newborn hearing screen. Conductive hearing loss occurs when sounds cannot get through the outer and middle ear to stimulate the auditory nerve. In children, the most common cause of conductive hearing loss is acute or chronic serous otitis media. Otitis media is typically transient and may increase the sound threshold at which children can detect tones or understand language. Persistent fluid in the middle ear may be treated with tympa nostomy or ventilation tubes. However, treatment of chronic serous otitis media with tympanostomy tubes does not improve outcomes in the domains of speech and language, cognition, academic skills, or psy chosocial functioning from preschool years through middle childhood. Neurologic Conditions Epilepsy Syndromes Children with Landau Kleffner syndrome or verbal auditory agnosia have a history of typical language development until they experience a regression in their ability to comprehend spoken languageverbal auditory agnosiaalong with the development of seizures, usually between 3 and 7 years of age. Expressive language skills also typically deteriorate. An electroencephalogram (EEG) may show a distinct pat tern of status epilepticus in sleep (continuous spike wave in slow wave sleep), and up to 80 of children with Landau Kleffner syndrome eventually exhibit clinical seizures. Use of antiepileptic medication, corticosteroids, and intravenous gamma globulin has led to varying results. The prognosis for return of typical language ability is uncertain, even if seizures resolve. Epileptic interictal discharges are more frequently found on EEGs of children with language impairments than EEGs of otherwise typically developing |
650 | children. The discharges are likely a manifestation of an underlying disorder of brain, distinct from the language impairment. Only when seizure symptoms or regression in language ability is pres ent is a routine EEG recommended in the evaluation for a child with speech andor language impairment. Downloaded for mohamed ahmed (dr.mms2020gmail.com) at University of Southern California from ClinicalKey.com by Elsevier on April 20, 2024. For personal use only. No other uses without permission. Copyright 2024. Elsevier Inc. All rights reserved. 330 Part IV u Learning and Developmental Disorders Cerebellar Mutism Syndrome In the aftermath of operations for tumors in the posterior fossa, such as medulloblastoma, many children lose the ability to speak. Fortunately, though the presentation is initially profound, most children recover the ability to use language. Cerebellar mutism syndrome demonstrates that the cerebellum probably plays a fundamental role in language and communication. The syndrome is thought to result from damage to the superior cerebellar peduncle that connects the cerebellum to language centers in the frontal lobes. Stroke Strokes in childhood can occur prenatally, in the perinatal period, or at any time in childhood. As in adults, a brain territory frequently affected is supplied by the middle cerebral artery resulting in damage to the left frontal and temporal lobes that are associated with language function in adults. However, young children with stroke show greater plasticity of language function than do adults with similar brain injuries. Many children with left hemisphere stroke go on to demonstrate typical or near typical language functions. Functional imaging studies document that these children activate uninjured regions of the left hemisphere around the stroke or homologous regions in the right hemisphere. This demonstrates that though under usual circumstances the left hemisphere serves language, alternative networks can substitute in the case of early injury. The quality of the home language environment is strongly associated with the language skills of children with strokes. Metabolic and Neurodegenerative Disorders (see Part IX and Chapter 639) Regression of language development may accompany loss of neuromo tor function at the outset of a number of metabolic diseases, includ ing lysosomal storage disorders (metachromatic leukodystrophy), peroxisomal disorders (adrenal leukodystrophy), ceroid lipofusci nosis (Batten disease), and mucopolysaccharidosis (Hunter disease, Hurler disease). A creatine transporter deficiency was identified as an X linked disorder that manifests with language delay in males and with mild learning disability in female carriers. Hydrocephalus (see Chapter 631.11) Children with hydrocephalus may be described as having cocktail party syndrome. In this syndrome, children may use sophisticated words, but their comprehension of abstract concepts is limited, prag matic conversational skills are weak, their analyses are superficial, and or they appear to be carrying on a monologue. Language in the Context of Psychologic or Mental Health Conditions Selective Mutism In selective mutism, children do not speak in specific social situations, such as school or other settings outside the home, though they speak normally in certain settings, such as within their home or when they are alone with their parents. Other symptoms include excessive |
651 | shy ness, withdrawal, dependency on parents, and oppositional behavior. Most cases of selective mutism are the manifestation of a chronic pat tern of anxiety. Children with selective mutism often report that they want to speak in social settings but are too afraid, worried, or distressed to do so. The family history is often positive for anxiety symptoms. Children with selective mutism may also have a language or speech impairment, contributing to their sense of distress in speaking. Treat ment of selective mutism generally uses evidence based approaches to reducing general anxiety, including cognitive behavioral therapy and or selective serotonin reuptake inhibitors in conjunction with speech language therapy. Table 53.3 DSM 5 Diagnostic Criteria for Communication Disorders From the Diagnostic and Statistical Manual of Mental Disorders, 5th ed. Washington, DC: American Psychiatric Association; 2013:42, 44, 4748. LANGUAGE DISORDER A. Persistent difficulties in the acquisition and use of language across modalities (i.e., spoken, written, sign language, or other) due to deficits in comprehension or production that include the following: 1. Reduced vocabulary (word knowledge and use). 2. Limited sentence structure (ability to put words and word endings together to form sentences based on the rules of grammar and morphology). 3. Impairments in discourse (ability to use vocabulary and connect sentences to explain or describe a topic or series of events or have a conversation). B. Language abilities are substantially and quantifiably below those expected for age, resulting in functional limitations in effective communication, social participation, academic achievement, or occupational performance, individually or in any combination. C. Onset of symptoms is in the early developmental period. D. The difficulties are not attributable to hearing or other sensory impairment, motor dysfunction, or another medical or neurologic condition and are not better explained by intellectual disability (intellectual developmental disorder) or global developmental delay. SPEECH SOUND DISORDER A. Persistent difficulty with speech sound production that interferes with speech intelligibility or prevents verbal communication of messages. B. The disturbance causes limitations in effective communication that interfere with social participation, academic achievement, or occupational performance, individually or in any combination. C. Onset of symptoms is in the early developmental period. D. The difficulties are not attributable to congenital or acquired conditions, such as cerebral palsy, cleft palate, deafness or hearing loss, traumatic brain injury, or other medical or neurologic conditions. SOCIAL (PRAGMATIC) COMMUNICATION DISORDER A. Persistent difficulties in the social use of verbal and nonverbal communication as manifested by all of the following: 1. Deficits in using communication for social purposes, such as greeting and sharing information, in a manner that is appropriate for the social context. 2. Impairment of the ability to change communication to match context or the needs of the listener, such as speaking differently in a classroom than on a playground, talking differently to a child than to an adult, and avoiding use of overly formal language. 3. Difficulties following rules for conversation and storytelling, such as taking turns in conversation, rephrasing when misunderstood, and knowing how to use verbal and nonverbal signals to |
652 | regulate interaction. 4. Difficulties understanding what is not explicitly stated (e.g., making inferences) and nonliteral or ambiguous meanings of language (e.g., idioms, humor, metaphors, multiple meanings that depend on the context for interpretation). B. The deficits result in functional limitations in effective communication, social participation, social relationships, academic achievement, or occupational performance, individually or in combination. C. The onset of the symptoms is in the early developmental period (but deficits may not become fully manifest until social communication demands exceed limited capacities). D. The symptoms are not attributable to another medical or neurologic condition or to low abilities in the domains of word structure and grammar and are not better explained by autism spectrum disorder, intellectual disability (intellectual developmental disorder), global developmental delay, or another mental disorder. Downloaded for mohamed ahmed (dr.mms2020gmail.com) at University of Southern California from ClinicalKey.com by Elsevier on April 20, 2024. For personal use only. No other uses without permission. Copyright 2024. Elsevier Inc. All rights reserved. Chapter 53 u Language Development and Communication Disorders 331 Schizophrenia A characteristic of schizophrenia is abnormal communication, includ ing highly disorganized language that is difficult to follow and frequent changes in topic (see Chapter 47.1). This communication challenge accompanies the thought disturbance that is the hallmark of schizo phrenia. Schizophrenia usually presents in individuals in adolescence or young adulthood. The communication disorder is linked to other features of schizophrenia, including slower processing speed, poorer cognitive control, and weaker working memory relative to typically developing peers. Adverse Psychosocial Conditions Orphanages An estimated 8 million children worldwide are living in residential care or orphanages, despite recognition of the severe adverse impacts of institutionalization on childrens health and development. Children in orphanages have poor receptive and expressive language skills, most likely the result of limited language exposure and lack of consistent warm relationships with caring adults. Children from orphanages may be adopted. In an international adoption, the children typically face a new challenge: learning a different language (see Chapter 9). Outcomes for internationally adopted children are mixed; meta analyses suggest trends for stronger language outcomes when children are adopted before the age of 1 year than after 1 year. However, findings were not statistically significant, likely because of the wide variety of challenges that the children face and difficulty identifying appropriate comparison groups. Foster Care Approximately 3075 of the children 6 years of age or younger in foster care are delayed, and therefore assessing language skills for them is imperative (see Chapter 10). An important contribution to the language delay in many children in foster care, like that of children in orphanages, is the lack of consistently warm, responsive parenting that is fundamental to language nutrition. Encouraging foster parents to increase language nutrition may positively affect the language skills of children in foster care. High Stress, Low Verbal Environments Children from homes where they may experience stressors, such as food insecurity, housing insecurity, poor childcare facilities, and high levels of community violence, are at risk for slower language develop ment relative to |
653 | peers in stable environments. All of these factors may contribute to initial delays in physical and cognitive development, with language development being one of the most noticeable to track developmental progress. If language delays persist, the chances that the children will catch up with others from more resourced environments, even if their circumstance change, are limited. Thus, what begins as a delay may end up as a disorder. Referral of children from stressed, low verbal environments to public and community based prevention programs designed to provide stability and to enhance language input may improve the childrens outcomes. SPEECH DISORDERS Structural Anomalies of the Organs of Speech Cleft Lip and Palate Cleft lip is a split in the formation of the lip. Cleft palate is a split in the hard andor soft palate (see Chapter 356). These conditions often occur together but may occur separately. Cleft lip or palate is the most com mon structural abnormality at birth in the United States. The cleft is often easy to see but may be subtle if isolated to the soft palate. A child with isolated cleft lip may have minimal speech problems. A child with cleft palate is likely to have speech difficulties, including hypernasal speech in which air escapes through the nose, making it difficult to produce consonants that need pressure to build in the mouth for proper execution (e.g., b, k, and s). In addition, children with cleft palate may have severe and persistent serous otitis media, leading to moderate to severe conductive hearing loss beyond the frequency and complica tions of children with an intact palate. Therefore most children with cleft palate need long term therapy with a speech language patholo gist (SLP). Cleft palate may occur in isolation, called nonsyndromic cleft palate, or in conjunction with other malformations, called syn dromic cleft palate. Velocardiofacial syndrome (VCFS) is an autoso mal dominant condition that results from a deletion on the long arm of chromosome 22 (deletion22q11) and may include cleft palate. Many different phenotypes are associated with this deletion, demonstrating the complex relationship of genes, anatomic structure, and function. The prognosis for speech and language in such cases is dependent on the specific syndrome associated with the cleft palate. Velopharyngeal Insufficiency Velopharyngeal insufficiency (VPI) is an abnormality of the soft pal ate, such that the soft palate cannot regulate the flow of air between the mouth and nose in speech. It may occur as part of cleft palate or may be an isolated finding. VPI may not be apparent in early develop ment when the adenoids are large and bolster the soft palate. As the adenoids regress, it may become clear that the soft palate is not clos ing off the passage to the nose, creating hypernasal speech. Evaluation of the intactness of the soft palate is important before adenoidectomy because removal of the adenoids can bring on VPI suddenly. Surgery or use of prosthetic devices may be required for individuals who cannot be helped by speech therapy. Speech Sound |
654 | Disorders Speech sound disorders is an umbrella term that refers to difficulties with perception, motor production, or phonologic representation of speech sounds andor speech segments (see Table 53.3). Speech sound disorders may be organic in origin, including neurologic conditions, structural conditions, or sensory conditions. Speech sound disorders are considered functional when no known cause can be identified. Speech sound disorders may be accompanied by subtle difficulties in speech perception. Phonologic Disorders Phonologic disorders are functional speech sound disorders that affect linguistic aspects of speech. Phonologic processes (see Table 53.1) are errors in speech production based on violations of predictable, rule based features of speech. These phonologic processes are typical at young ages and resolve at specific ages. Phonologic processes become disorders when they persist to older ages and impair intelligibility. Articulation Disorders Articulation disorders focus on errors (such as distortions and sub stitutions) in production of individual speech sounds regardless of where in a word or phrase the sound occurs. Articulation errors are not the result of neuromotor impairment, but rather seem to reflect an inability to correctly process the words they hear. As a result, they lack understanding of how to fit sounds together properly to create words. Children with articulation or other speech sound disorders are at risk for later reading and learning disability. Childhood Apraxia of Speech In childhood apraxia of speech (CAS), difficulty in planning and coor dinating movements for speech sound production results in inconsis tent distortions or errors of speech sounds, even vowel sounds. The same word may be pronounced differently each time, making intel ligibility poor. Intelligibility also tends to decline as the length and complexity of the childs speech increase. Consonants may be deleted and sounds transposed. As they try to talk spontaneously or imitate others speech, children with CAS may display oral groping or strug gling. Children with CAS frequently have a history of early feeding difficulty, limited sound production as infants, andor delayed onset of spoken words. They may point, grunt, or develop an elaborate ges tural communication system in an attempt to overcome their verbal difficulty. Apraxia may be limited to verbal motor skills, may extend to oral motor function, or may be a more generalized problem affect ing fine andor gross motor coordination. Childhood apraxia of speech may co occur with disorders of language and learning. Downloaded for mohamed ahmed (dr.mms2020gmail.com) at University of Southern California from ClinicalKey.com by Elsevier on April 20, 2024. For personal use only. No other uses without permission. Copyright 2024. Elsevier Inc. All rights reserved. 332 Part IV u Learning and Developmental Disorders Dysarthria This motor speech disorder often originates from neuromotor disor ders, such as cerebral palsy, muscular dystrophy, myopathy, and facial palsy. Dysarthria is characterized by lack of strength and muscu lar control and manifests as slurring of words and distorting vowels. Speech patterns are often slow and labored. Feeding difficulty, drool ing, open mouth posture, and protruding tongue may accompany the dysarthric speech. Disorders of Fluency, Voice, and Resonance Stuttering |
655 | Under normal circumstances, most people do not speak smoothly all the time, but rather repeat words or sounds, hesitate to find a word, pause, add uh or you know to the flow of speech, or repeat a sound or word more than once. These disruptions are called dysfluencies and are discussed further in Chapter 53.1. Stuttering in children over age 4 that lasts longer than 6 months, includes repetition of individual sounds, andor creates emotional distress should be evaluated by a speech and language pathologist. Voice A voice disorder is an abnormality in voice quality, pitch, and loud ness that is unexpected or inappropriate for an individuals age, gender, cultural background, or geographic location. Voice disorders can be subdivided into organic and functional. Organic voice disorders are physiologic in nature and result from alterations in respiratory, laryn geal, or vocal tract mechanisms. Aerodigestive disorders cover con genital or acquired conditions of the aerodigestive tract; they include abnormalities of the airway (pharynx and larynx), pulmonary tract (trachea, bronchi, and lungs), and upper digestive tract (esophagus). These structural problems may affect respiratory and swallowing func tions and speech, especially voice. Functional voice disorders result from improper or inefficient use of the vocal mechanism in the con text of normal physical structure. Psychologic stress can also lead to habitual and maladaptive voice quality, known as psychogenic voice disorders. These categories may overlap. Vocal nodules result from behavioral voice misuse that leads to repeated trauma to the vocal folds and structural changes to the vocal fold tissue. ASSESSMENT OF LANGUAGE AND SPEECH DISORDERS Screening Developmental surveillance at each well child visit should include spe cific questions about typical language developmental milestones and observations of the childs behavior. Clinical judgment, defined as elic iting and responding to parents concerns, can detect many children with speech and language challenges. The American Academy of Pedi atricians (AAP) recommends clinicians employ standardized develop mental screening questionnaires and observation checklists at select well child visits (see Chapter 28). However, the U.S. Preventive Ser vices Task Force reviewed screening for language impairment in young children in primary care settings and found inadequate evidence to support screening in the absence of parental or clinician concern about childrens speech, language, hearing, or development. At present, when parents, other caregivers, or physicians are concerned about speech or language development, the child should be referred for a diagnostic evaluation and intervention. Diagnostic Evaluation A developmental delay indicates abnormally slow timing relative to same age peers in the development of the skill. A language delay becomes a language disorder when it persists to school age; is func tionally impactful in terms of communication, social skills, or learn ing and cognition; or is qualitatively different from normal patterns or sequences of development. Language and communication skills should be interpreted within the context of that childs overall cognitive, social, and physical abilities. A multidisciplinary evaluation of a child with language delay or disorder is often warranted. At a minimum, the diag nostic evaluation should include psychologic or |
656 | neurodevelopmental evaluation, including an assessment of social skills, a speech language evaluation, an audiologic assessment, and a pediatric examination. Psychologic or Neurodevelopmental Evaluation The two main goals for the psychologic evaluation of a young child with a communication disorder are to assess nonverbal cognitive ability and social skills. A broad based cognitive assessment is important to determine the breadth and severity of developmental difficulties. At a minimum, the child should have an assessment of both verbal and non verbal skills. As children reach school age, they may be assessed with an intelligence test and an assessment of adaptive function to determine if they meet criteria for intellectual disability (see Chapter 56). If the child has findings of global developmental delay or intellectually disability, their language and speech skills should be evaluated within that con text. Language and speech disorders may coexist with other conditions, so that the psychologic evaluation at all ages should consider mental health conditions, such as anxiety, mood disorder, and attention deficit hyperactivity disorder (ADHD) and, at older ages, learning challenges. A childs social behaviors must be assessed to determine whether the child meets diagnostic criteria for ASD (see Chapter 58). Children with language impairment may display an interest in social interaction, even if they may have difficulty socializing because of limitations in com munication skills, such as difficulties initiating conversation or taking turns. Children with ASD do not display social interest in typical ways. However, the distinction may be challenging in the context of a clini cal evaluation when the child needs to interact only with professional adults and not with peers. Observational tests include specific maneu vers, such as calling the childs name, making exaggerated gestures, and attempting to engage the child in a reciprocal interaction around blow ing bubbles, to make this distinction. Speech and Language Evaluation A certified SLP should perform a speech and language evaluation on a child with delays or difficulties in language and speech. A typical evaluation includes assessment of language, speech, and the physical mechanisms associated with speech production. Both expressive and receptive language (see Table 53.1) are assessed, using a combination of standardized measures, informal interactions, and pertinent observa tions. All components of language are assessed, including phonology, lexicon, morphology, syntax, and pragmatics (see Table 53.1). Speech assessment similarly uses a combination of standardized measures and informal observations and includes assessment of speech sounds, flu ency, voice, and resonance. Assessment of physical structures includes oral structures and function, respiratory function, and vocal quality. Audiologic Assessment (see Chapter 677) In many settings, an SLP works in conjunction with an audiologist, who can do an appropriate hearing evaluation of the child. If an audiol ogist is not available in that setting, a separate referral should be made. No child is too young for a hearing evaluation. Passive methods can be used in children who are young or unable to cooperate with testing. Repeat assessment with an active assessment can be accomplished at older ages. A referral for full hearing evaluation |
657 | is appropriate when ever there is suspicion of language or speech impairment. Pediatric Evaluation History and physical examination should focus on the identification of potential contributors to the childs language and communication difficulties. A family history of delay in talking, need for speech and language therapy, or academic difficulty can suggest a genetic predis position to language disorders. Pregnancy history might reveal risk factors for prenatal developmental anomalies, such as polyhydramnios or decreased fetal movement patterns. Small size for gestational age at birth, symptoms of neonatal encephalopathy, or early and persis tent oral motor feeding difficulty may presage speech and language difficulty. Developmental history should focus on the age when vari ous language skills were mastered and the sequences and patterns of milestone acquisition. Regression or loss of acquired skills should raise immediate concern. Downloaded for mohamed ahmed (dr.mms2020gmail.com) at University of Southern California from ClinicalKey.com by Elsevier on April 20, 2024. For personal use only. No other uses without permission. Copyright 2024. Elsevier Inc. All rights reserved. Chapter 53 u Language Development and Communication Disorders 333 Physical examination should include measurement of height (length), weight, and head circumference, even in children over age 2 years. The skin should be examined for lesions consistent with phakom atosis (see Chapter 636). Anomalies of the head and neck, such as white forelock and hypertelorism (Waardenburg syndrome), ear malforma tions (Goldenhar syndrome), facial and cardiac anomalies (Williams syndrome, VCFS), retrognathism of the chin (Pierre Robin anomaly), or cleft lippalate, are associated with hearing and speech abnormali ties. Neurologic examination might reveal muscular hypertonia or hypotonia, both of which can affect neuromuscular control of speech. Generalized muscular hypotonia, with increased range of motion of the joints, is frequently seen in children with language impairment. The reason for this association is not clear, but it might account for the fine and gross motor clumsiness often seen in these children. How ever, mild hypotonia is not a sufficient explanation for the impairment of receptive and expressive language. Language impairment may be a component of a syndrome or other recognizable condition. The physi cal examination gathers information to make other diagnoses. No routine diagnostic studies are indicated for isolated language dis orders with the exception of the hearing assessment. When language delay is a part of a generalized cognitive or physical disorder, referral for further genetic evaluation, genetic testing (e.g., fragile X testing, microarray, whole exome or whole genome sequencing), neuroimag ing studies, and EEG should be considered. Treatment of Language and Speech Disorders Disorders of language and speech are often treated by SLPs working alone or as part of a multidisciplinary team with others, such as early intervention specialists or occupational therapists. SLPs may work in hospital in patient and out patient settings. More commonly, they work in schools and early intervention programs. The nature and inten sity of treatment are predicated on the nature and cause of the language or speech disorder and the explicit objectives of treatment. Childhood apraxia of speech typically requires that |
658 | the child participate in four or five short sessions per week to achieve intelligible speech, whereas lan guage impairment disorder may require once or twice weekly therapy in a peer group setting to increase communicative attempts. Speech language therapy for young children is typically play based. Even drills are couched in naturally occurring, enjoyable, or fun activities. Group therapy with other young children is often well suited to children with language and communication disorders because children practice their emerging skills with peers in naturalistic settings. A strong family com ponent to therapy is important to leverage the limited time that thera pists can spend with children. Caregivers can be taught to use effective techniques designed to meet the objectives of the treatment program. For children who do not develop useful verbal language, the SLP may consider the use of assistive and augmentative communication (AAC; see Chapter 54), which may use high technology devices, such as voice generating computer programs, or low technology solutions, such as sign language or picture exchanges. The use of AAC allows the nonverbal child to communicate within the human community. Sev eral systematic reviews and meta analyses provide compelling data that speech language therapy is effective for improving many aspects of language and speech. Therefore a timely referral for treatment with an SLP is recommended over watchful waiting for many children with delays and disorders of language and speech. Visit Elsevier eBooks at eBooks.Health.Elsevier.com for Bibliography. 53.1 Childhood Onset Fluency Disorder Kenneth L. Grizzle and Karolyn Mirasola Dysfluent speech describes speech, language, and voice behaviors that interrupt the production and fluency of sounds, words, and thoughts. All speakers produce dysfluent speech, but not all dysfluent speech is stuttering. The words stuttering, stammering, and dysfluency are often used interchangeably. Stutter is used informally, particularly in the United States, to describe when an individual is struggling to express themself and may speak in a halting manner. Stammering is used in the United Kingdom in place of stuttering (Table 53.4). It is important for clinicians to have a general understanding about what stuttering is and when to counsel and refer families to speech language pathologists (SLPs). It is important to distinguish between stuttered and nonstut tered dysfluencies and other fluency disorders and to identify concom itant symptoms. DIAGNOSIS In the Diagnostic and Statistical Manual for Mental Disorders, Fifth Edi tion (DSM 5), the term stuttering has been removed from the diagnos tic classification, and the disorder is referred to as childhood onset fluency disorder (Table 53.5). Note that impact on functional behav ior is a component of the psychiatric diagnosis. In contrast, commu nication disorder specialists would consider anxiety and avoidance of various activities as concomitant symptoms, but not necessarily a requirement for the diagnosis of stuttering. Child onset stuttering (formerly known as developmental stut tering) is a speech disorder that often begins in the preschool period Table 53.4 Terminology Related to Childhood Onset Fluency Disorder TERM DEFINITION Stuttering A speech disorder manifested through abnormal speech patterns referred to |
659 | as dysfluencies Childhood onset fluency disorder Term used in DSM 5 that is synonymous with stuttering Stammering The clinical term used in the United Kingdom rather than stuttering; stammering also used informally to describe halting speech Cluttering A speech disorder characterized by an excessively rapid and irregular rate of speech Dysfluency Speech disruptions that can occur in normal or disordered speech Table 53.5 DSM 5 Diagnostic Criteria for Childhood Onset Fluency Disorder A. Disturbances in the normal fluency and time patterning of speech that are inappropriate for the individuals age and language skills, persist over time, and are characterized by frequent and marked occurrences of one (or more) of the following: 1. Sound and syllable repetitions. 2. Sound prolongations of consonants and vowels. 3. Broken words (e.g., pauses within a word). 4. Audible or silent blocking (filled or unfilled pauses in speech). 5. Circumlocutions (word substitutions to avoid problematic words). 6. Words produced with an excess of physical tension. 7. Monosyllabic whole word repetitions (e.g., I I I I see him). B. The disturbance causes anxiety about speaking or limitations in effective communication, social participation, or academic or occupational performance, individually or in any combination. C. The onset of symptoms is in the early developmental period. Note: Later onset cases are diagnosed as 307.0 F98.5 adult onset fluency disorder. D. The disturbance is not attributable to a speech motor or sensory deficit, dysfluency associated with neurologic insult (e.g., stroke, tumor, trauma), or another medical condition and is not better explained by another mental disorder. From the Diagnostic and Statistical Manual of Mental Disorders. 5th ed. Washington, DC: American Psychiatric Association; 2013:4546. Downloaded for mohamed ahmed (dr.mms2020gmail.com) at University of Southern California from ClinicalKey.com by Elsevier on April 20, 2024. For personal use only. No other uses without permission. Copyright 2024. Elsevier Inc. All rights reserved. 334 Part IV u Learning and Developmental Disorders and is not associated with stroke, traumatic brain injury, or other pos sible medical conditions. Stuttering behaviors can occur in typically developing children who do not have a speech disorder and in this situation are more accurately referred to as developmental dysfluencies. During the toddler and preschool years, children often produce repeti tion of sounds, syllables, or words, particularly at the beginning of sen tences (normal dysfluencies). These developmental dysfluencies occur between the ages of 2.5 and 4 years old when the language, motor, and emotional systems are developing. These dysfluencies may occur as the child struggles to try to express more complex ideas in a rapid and precise manner. Child onset stuttering disorder also typically begins between 2 and 4 years of age. Onset of symptoms varies from pronounced stuttering within a few days to gradual worsening of symptoms across months. Symptoms may ebb and flow, including disappearing for weeks before returning, especially among young children. From 40 to 75 of young children who stutter will stop spontaneously, typically within months of starting. Although predicting which child will stop stutter ing is difficult, risk factors for |
660 | persisting include stuttering for 1 year, continued stuttering after age 6 years, and experiencing other speech or language problems. Additionally, certain types of dysfluencies are typically seen only in child onset stuttering disorder. Types of Dysfluencies Dysfluencies interrupt the normal flow of speech through repeated or prolonged sounds, syllables, or words. Types of dysfluency that are not exclusive to children who stutter include interjections (well, uhh, umm), hesitations (pause), revisions (I thought . . . I mean), and phrase repetitions (Did you sayDid you say). In addition, the perspective of the speaker and cause of the dysfluency differ between true stuttering disorders and other types of dysfluency. The dysfluen cies might sound the same but occur for different reasons. For example, a typically developing child with dysfluency may talk around a word or use a completely different word because of issues with word retrieval, complex thought formulation, or distractibility. But for children who stutter, they may talk around a word or retrieve a completely different word because even though they know exactly what they want to say, they are unable to produce or get the sounds out. This highlights the notion that stuttering is about more than what the listener observes. The moment of stuttering is different because something occurs that only the person who stutters can perceive. Dysfluencies that occur in child onset stuttering vary in type, fre quency, and longevity. Specifically, children who stutter show greater part word repetition (b b b b but), single syllable word repetition (My, my, my), sound prolongation (MMMMMM an), and in more severe cases, blocking. Blocking is a dysfluent behavior that is iden tified by a fleeting or sometimes lengthy blockage of the flow of air at the level of the vocal folds or articulators (tongue, teeth, and lips). Typically, the child has initiated an articulatory posture (tongue is in the position to produce k), but she is unable to release any air and or phonation (i.e., voice). Often in response to this inability to pro duce sounds or words, the child will develop secondary behaviors that recruit movement from other parts of the body that the child feels they have more control over. These types of behaviors and movements exist only within child onset stuttering disorder. They are referred to as secondary charac teristics, or physical concomitants that often occur as a response to stuttering. Common secondary characteristics include movements of the head (head turning or jerking), face (eye blinkingsquinting, gri macing, opening or tightly closing the jaw), neck (tightening), and limbs (stomping feet, slapping hand); an increase in body tension; and irregular patterns of inhalations and exhalations. Emotional Symptoms and Stuttering Fear and anxiety are emotional symptoms associated with stutter ing. Many people experience some level of fear and anxiety related to speaking in front of a group, but children who stutter often experi ence high levels of fear and anxiety related to all speaking situations, especially ones that occur with newer or unfamiliar people (e.g., order ing at a |
661 | restaurant, calling a store to ask about store hours, introducing oneself). Along with their own feelings interfering with speech produc tion, the reactions of those around them may also increase the anxiety of children who stutter. Negative interactions or comments may inhibit a childs future attempts to interact verbally with another person or in a group setting. Consider also the potential social challenges associated with entering a classroom for the first time, transitioning to middle high schoolcollege, beginning a job, dating, and so on. Not surpris ingly, just as avoiding production of a perceived sound or word is common, avoidance of situations and people is a common way of cop ing with the anxiety created by the fear of stuttering. These avoidance behaviors indicate a need for intervention. Differential Diagnosis Although many dysfluencies are often referred to as stuttering, it is important to recognize that there are different types of fluency disor ders. Cluttering is a fluency disorder that may occur with or separate from stuttering but is different in form and cause. Stuttering and clut tering have been identified to exist on a continuum. Unlike stutter ing, for which distinct episodes can be identified and even counted, cluttering affects the entire speech output and is often diagnosed around age 7 years or later. In addition to elevated repetitions of par tial words (as in stuttering), whole words, and phrases, those who clutter show speech bursts that are often choppy, and articulation can be slurred and imprecise. In addition, there is often an increase in disorganization of their language, unusual prosody, and listener per ception of a fast rate of talking. The level of awareness of how their speech affects those listening, unlike children who stutter, is mini mal for those who clutter. In fact, children with a cluttering disorder often experience a decrease in their dysfluent behaviors when they are speaking in front of a group because of an increased focus on their speech, whereas the impact for children who stutter is exactly the opposite. In addition to cluttering, neurogenic (result of a stroke, head trauma, or other neurologic damage) and psychogenic (associated with psycho logic trauma) stuttering also exist, though they rarely occur in child hood. Stuttering can also be confused with dysfluent speech that occurs for other neurologic reasons (e.g., Tourette syndrome, cerebral palsy, spasmodic dysphonia). Epidemiology Approximately 5 of children experience stuttering, with the high est rates among young children. Seldom does a child begin stuttering before 2 years of age or after 12 years; in fact, the mean age of onset is 2 4 years, and most children stop stuttering within 4 years of onset. Symptoms will disappear within 4 weeks for a minority of children. Stuttering is more common in males than in females, and the magni tude of the difference increases as children get older. The ratio among children 5 years is approximately 2:1 and jumps to 4:1 among adoles cents and young adults. Genetics There is convergent evidence of a genetic link |
662 | for childhood onset flu ency disorder. Concordance rates among monozygotic twins range from 20 to 83, and for dizygotic twins, 419. Family aggregation studies suggest increased incidence of approximately 15 among first degree relatives of those affected, three times higher than the 5 rate for the general population. The variance in risk for stuttering attributed to genetic effects is high, ranging from 70 to 85. Although evidence is limited, stuttering appears to be a polygenic condition, and several genes increase susceptibility. Brain Structure and Function Brain structure and function abnormalities found among individu als who stutter include deficits in white matter in the left hemisphere, overactivity in the right cortical region, and underactivity in the audi tory cortex. Abnormal basal ganglia activation has also been identified. Downloaded for mohamed ahmed (dr.mms2020gmail.com) at University of Southern California from ClinicalKey.com by Elsevier on April 20, 2024. For personal use only. No other uses without permission. Copyright 2024. Elsevier Inc. All rights reserved. Chapter 53 u Language Development and Communication Disorders 335 EVALUATION Comorbidities Despite the widely held belief in a high degree of comorbidity between childhood onset fluency disorder and other communication disorders, research to date does not necessarily support this association. SLPs consistently report high rates of comorbidity, although this would be expected in clinical samples. Speech sound (phonologic) disorders are the most commonly reported comorbidities, occurring in 3040 of children seen by SLPs. However, studies have not found greater inci dence of phonologic disorders among those who stutter compared to a control group. Similarly, SLPs report a much higher percentage of chil dren with language disorders among their patients who stutter than the approximately 7 expected in the population at large, yet studies find the language functioning among individuals who stutter is no different than in the general population. The same pattern holds for learning disorders (LDs). Children who stutter seem to experience more anxiety than their nonstuttering peers, although research is limited. The frequency of reported anxiety increases with age. Social anxiety and general ized anxiety disorder are common among adolescents who stutter. Although one should not assume that an individual who stutters will have an increased risk for any specific psychiatric disorder, assessing for anxiety is important, as children who stutter fre quently avoid situations that demand speaking, as discussed earlier in the chapter. Children who stutter have consistently been found to be bul lied more than peers. In one study, these children were almost four times more likely to be bullied than their nonstuttering counter parts. About 45 of children who stuttered reported having been the victim of bullying. Referral to Speech and Language Pathology In deciding who to refer to an SLP, it is important to distinguish developmental dysfluencies from stuttering. In addition to the risks noted in Table 52.5, indications for referral include three or more dysfluencies per 100 syllables (b b but; th th the; you, you, you), secondary characteristics denoting escape or avoidance behaviors (pauses, head nod, blinking), discomfort or anxiety while speaking, |
663 | family history of stuttering or other speech language disorders, and suspicion of an associated neurologic or psychotic disorder. Most children with persistent stuttering after age 4 years should be evalu ated by an SLP. As a part of the evaluation, the SLPs will be able to address the many pressing concerns and worries of a parent whose child is stuttering. The outcome of a speech language evaluation for stuttering should accom plish the following: 1. Obtain a strong family history related to the existence of speech and language disorders in general and more specifically related to stut tering and dysfluencies. 2. Interview the parent or child about the childs stress when speaking in various situations. 3. Record a speech sample to analyze the type, frequency, and com plexity of the dysfluent behaviors and secondary characteristics that the child is producing. 4. Differentiate between developmental dysfluency behaviors, other causes of dysfluent behaviors, and a child onset dysfluency disorder (aka stuttering). 5. Develop a plan with the family that involves a combination of direct and indirect speech and language therapy, parent education, and home programming. TREATMENT A true stuttering disorder is a lifelong condition. To date, no evidence supports the use of a pharmacologic agent to treat stuttering in chil dren and adolescents, and there is no cure for stuttering. However, treatment in preschool age children has been shown to improve stut tering. In fact, speech language therapy is most effective when initi ated during the preschool period. The broad focus of therapy allows for minimizing the adverse effects of the condition. Based on the childs age, types and frequency of stuttered behaviors, severity of secondary characteristics, and impact on the childs qualify of life, the SLP will decide if a less direct or more direct therapeutic intervention is recommended. Less direct therapy focuses on manipulating the situation and envi ronment while allowing the child to experience increased fluency. Most preschool children respond to interventions taught by SLPs that are accompanied by behavioral feedback strategies implemented by parents and teachers. It is important to recognize that parental pressure or speak ing pressure does not cause stuttering. A less direct therapy approach involves working with the caregiver to accomplish the following: 1. Limit situations and expectations that cause increased dysfluencies and stress 2. Demonstrate and model how to adjust speaking rate and complexity of language rather than reprimanding children for their speech er rors or asking them to slow down 3. Increase opportunities for the child to experience fluent communi cation More direct therapy is recommended and implemented when less direct therapy did not have an impact on the stuttering behaviors, the child has increasing worries related to stuttering, the child has a high risk of continuing to stutter, or the child is older and has been stutter ing for some time. One of the overarching goals of the therapy imple mented by an SLP is to help the child experience increased fluency and strategies to learn how to stutter better. Therapy that |
664 | is more direct adds the following elements: 1. Awareness and education: Recognizing and accepting that their speech is different, identifying and naming types of speech, nonjudgmentally noting episodes of stuttering using selected words and phrases (which are often accompanied by pictures) that were developed with and practiced by the child (That was a bit bumpy), appreciating others reaction to the child when stuttering, managing secondary behaviors, admitting they are a person who stutters, and addressing avoidance behaviors as a result of the stress and anxiety they are experiencing. 2. Fluency shaping behaviors: Regulating rate of speech and breathing and helping the child gradually progress from the fluent production of syllables to more complex sentences. The child should be involved in opportunities to identify speech disfluencies, implement self correction, and respond to requests (Can you say that again?). Because stuttering rarely disappears, the thrust of therapy is often to improve the type of stuttering, decrease the occurrences of stuttering, and develop strategies for coping with the fear and anxiety that will continue to occur in various speaking opportunities. Appreciating that dysfluency is a broad term and stuttering can be one of the causes for this behavior allows pediatricians to have a more accurate understanding of the symptoms, causes, and treatments asso ciated with dysfluencies. Being armed with this information allows the provider to include in their referral to an SLP an accurate description of symptomology, which will be beneficial in the planning and execu tion of their initial evaluation. Visit Elsevier eBooks at eBooks.Health.Elsevier.com for Bibliography. Downloaded for mohamed ahmed (dr.mms2020gmail.com) at University of Southern California from ClinicalKey.com by Elsevier on April 20, 2024. For personal use only. No other uses without permission. Copyright 2024. Elsevier Inc. All rights reserved. 336 Part IV u Learning and Developmental Disorders Children must develop communicative competence to interact with others, to influence their environment, and to participate fully in soci ety. If children are not able to effectively communicate, they will have minimal means to express what they need, exchange information with others, and develop social skills and relationships. Some children are unable to communicate effectively through natural means, including speech, gestures, or writing (see Chapter 53). These children with com plex communication needs (CCNs) have more independent func tion through augmentative and alternative communication (AAC) methods to meet their communication needs and to avoid significant restrictions on their participation in all aspects of life. AAC interventions have been helpful for individuals with no speech, limited speech, and those at risk for speech language disorders; this includes individuals who rely on speech but need augmentation to enhance speech, those recovering from a traumatic brain injury, and those who may have temporary conditions affecting communication. AAC has changed from an emphasis on providing the means to express needs and wants to the recognition that communication must also fos ter exchange of information, development of social relationships, and participation in social routines. In addition, there is recognition that communication needs extend beyond face to face interactions |
665 | and also include written communication in the school setting and even social media in peer communities. DEFINITIONS According to the American Speech Language Hearing Association (ASHA), AAC is an area of clinical practice that addresses the needs of individuals with significant and complex communication disorders characterized by impairments in speech language production andor comprehension, including spoken and written modes of communica tion. AAC encompasses the communication methods used to supple ment or replace speech or writing for those with impairments in the production or comprehension of spoken or written language. In pedi atrics, AAC is used by youth with a wide range of speech and language impairments, including cerebral palsy (CP), traumatic brain injury, intellectual disabilities, autism spectrum disorder (ASD), and apraxia of speech. In addition, children and adolescents hospitalized in inten sive care units can benefit from AAC. AAC is augmentative when used to supplement existing speech and alternative when used in place of speech that is absent or not functional. AAC uses a wide variety of electronic and nonelectronic techniques from low technology to high technology, including manual signs, gestures, tangible objects, line drawings, picture communica tion boards and letter boards, and speech generating devices. The term assistive technology (AT) is a more general term describing systems and devices that alleviate the effects of a disability and improve func tion, for example, bracing for a child with a neuromotor impairment as well as AAC. Prevalence Across countries, the overall prevalence of AAC use ranges from approximately 1.2 to 1.5 of the population; worldwide up to 0.6 of the school age population has a severe speech impairment. A national survey of U.S. special educators reported that approximately 18 of students served in special education use a form of AAC for commu nication, with 7 using gestural modes, 6.5 using pictorial supports, and 4.8 using a speech generating device (SGD). However, not all U.S. children with developmental disabilities or children with special healthcare needs have their communication needs met. The more severe a childs communication deficit, the more likely the child would benefit from AAC support. Across particular pediatric populations, it has been estimated that 2550 of children with ASD have limited speech and would benefit from AAC. Up to 45 of children with CP use AAC either exclusively or to supplement speech. Several studies have found that in intensive care units 30 of patients had communication breakdowns and met AAC candidacy criteria, although alternative communication modes were rarely used. Goals of Communicative Interactions and AAC Interventions The ultimate goal of AAC is to enable individuals to effectively engage in interactions and participate in activities of their choosing. Broadly speaking, the goals of AAC interventions are to assist individuals with meeting their current communication needs and prepare them to meet their future communication needs. Communicative interactions can be said to fulfill four purposes: (1) communicate needswants, (2) transfer information, (3) social closeness, and (4) social etiquette. It is important to remember that adequacy of communication depends on the personal goals |
666 | of the person using AAC, and the definition of suc cess may vary by the professionals involved. Most children with complex communication needs demonstrate some ability to communicate using speech, although some are entirely nonverbal. The effectiveness of natural speech for communication can be divided into 10 levels (Meaningful Use of Speech Scale; Robbins Osberger): 1. Makes vocal sounds in communicative exchanges 2. Gets another persons attention using speech 3. Uses various vocal sounds depending on the intention and content of messages Uses speech for communication about: 1. Known topics with familiar people 2. Known topics with unfamiliar people 3. New topics with familiar people 4. New topics with unfamiliar people 5. Messages that are understood by familiar people 6. Messages that are understood by unfamiliar people 7. Clarification messages as needed when communication breakdown occurs AAC Systems An AAC system refers to the integrated group of components used to support and enhance communication. These components include the specific forms of AAC, selection techniques, and strategies for use. Individuals with complex communication needs must have access to a wide range of means to enhance their communication and participate fully within social and educational contexts. This may include unaided AAC, which does not require an external tool and requires some degree of motor control (e.g., gestures, sign language, finger spelling, speech approximations), or aided AAC, which requires either an elec tronic or a nonelectronic tool. Nonelectronic aided forms are referred to as low tech aided AAC and include options such as communica tion boardsbooks, picture exchange communication systems (PE or PECS, pictures, photographs), or visual schedules. Electronic forms are referred to as mid tech or high tech AAC systems and include tradi tional speech generating devices (SGDs) or voice output communica tion aids (VOCAs), recordable devices, and computertablet options and applications (apps). SGDsVOCAs include multiple options. Single level devices have pictureswords on a single level display, whereas multilevel devices can have vocabulary programmed on more than one level. Static display devices keep the same display, and the user can sequence symbols or words to generate a message. Dynamic display devices are usually those with a touch screen for the display in which pages can change using navigation keys and link buttons. Text to speech devices enable the user to spell messages that convert to syn thesized speech. Some dynamic display devices include text to speech Chapter 54 Augmentative and Alternative Communication Michelle M. Macias Downloaded for mohamed ahmed (dr.mms2020gmail.com) at University of Southern California from ClinicalKey.com by Elsevier on April 20, 2024. For personal use only. No other uses without permission. Copyright 2024. Elsevier Inc. All rights reserved. Chapter 54 u Augmentative and Alternative Communication 337 and use symbols as well as text. Table 54.1 provides examples of the range of AAC systems. Mobile technology (e.g., iPad) and greater use of social media tools have increased acceptance of AAC and reduced attitudinal barriers to AAC use. However, the increased diversity of communication tools also means increased operational demands, given that each |
667 | tool is designed with different representations, organizations, and layouts of information as well as different access techniques (e.g., swiping, tap ping). Each design may reflect different motor, cognitive, perceptual, and linguistic learning demands. A combination of gesturessigns, low technology systems, mobile technology devices, and SGDs can provide AAC users with the most effective communication options to suit their needs. AAC Teams AAC teams serving individuals with CCNs are the groups of people that guide the AAC intervention decision making process and imple ment communication supports. Team members include the children and adolescents with CCN themselves, parentscaregivers, and profes sionals playing a variety of roles. Children with CCN. The most important member of the team is the individual relying on AAC techniques. The role may change in response to the individuals maturation and capability, but to the extent possible, the child or adolescent should participate in the decision making pro cess regarding goals, social relationships, and support options related to the AAC system and interventions. AAC facilitators. The term facilitator refers to parentsfamily mem bers, friends, professionals, and frequent communication partners who assume some responsibility for keeping the AAC system operational andor supporting the person with CCN to use it effectively. They sup port communication interactions by coaching, serving as interpreters, andor helping resolve communication breakdowns. Importantly, the role of facilitator is to support independent communication by the individual with CCN, not to communicate for the individual. AAC specialists. AAC specialists provide direct AAC interven tion services by instructing and educating about AAC and design ing and implementing AAC interventions. AAC specialists work with clinicians and educators, such as speech language patholo gists, occupational therapists, teachers, and pediatric healthcare providers who provide clinical and educational services to youth with CCN. AAC Assessment AAC assessment involves gathering information so that informed deci sions can be made about the adequacy of current communication, the communication needs, the AAC techniques that are most appropriate, how to provide instruction in AAC techniques, and how to evaluate outcomes. Proper evaluation and support for the use of AAC devices are of paramount importance. Studies comparing acquisition of communication skills reveal few differences in terms of how quickly many children can learn to use some of the available AAC options. For example, PEC and sign lan guage comparison studies varysome show PECs were acquired more easily than signing, and others suggest both PECs and signing were acquired at an equal pace. Studies comparing PECs with SGDs simi larly vary in terms of effectiveness of device use. Physicians, therapists, and other professionals who prescribe AAC must make sure the child (and family) receives training and monitor ing for using the device and that the device is accessible across settings in which the child functions (e.g., home, school, community activi ties). A substantial number of AAC devices are abandoned shortly after implementation without support for their use. AAC assessment and intervention is a dynamic process, and usually ongoing, as often the children and adolescents requiring the AAC system are unable |
668 | to speak or write because of physical, cognitive, language, andor sensory impairments. Assessment generally consists of four phases as outlined here: Phase 1: Referral. The finder role is an important role for pediatric healthcare providers. They may be the impetus for recognizing that a child has a CCN and that an AAC intervention may be helpful. They then assist the patient and their family by initiating a referral to an appropriate resource. The pediatric provider can support the AAC funding application by certifying a medical diagnosis and sign ing a prescription for the recommended service. Although the role is episodic, it is nonetheless a key role in the AAC assessment and treatment process. Phase 2: Initial Assessment. The goal of this phase is to gather infor mation to design an AAC intervention to match the childs exist ing needs and capabilities. The AAC specialist(s) assesses the childs current communication interaction needs and his or her physical, cognitive, language, and sensory abilities. This typically focuses on enabling communicative interactions between the child and familiar AAC facilitators. The intervention is refined as the child learns about the operational requirements of the AAC system and the AAC team gathers information on how well the system works for the child. Demonstrations and simulators are available to help with training before the actual equipment is ordered. Phase 3: Assessment for Other Settings. The goal is to develop a solid communication system that supports the child with CCN in a va riety of environments, including home, school, and recreational environments. A child must have access to a system that allows edu cational and social participation. Phase 4: Follow Up Assessment. This involves maintaining a com prehensive AAC system that accommodates the childs changing capabilities. The communication equipment must be examined regularly to assess the needs of new communication partners, de tect replacementrepair needs, and reassess the childs capabilities as they change. Specific Assessment Details Assess Current Communication. The initial step is to assess the effective ness of the childs current communication system. The assessment of communication access focuses on the operational and social aspects of communicative competence. A child with spastic quadriplegia, for example, may be unable to use eye gaze consistently and therefore operationally unable to use an eye gaze AAC system. On the other hand, a minimally verbal adolescent with ASD may be able to operate an electronic AAC device but never use it to initiate a social interaction. Table 54.1 Types of Augmentative and Alternative Communication LOW TECH MID HIGH TECH Unaided Sign language Gestures Aided Communication boardsbooks Picture exchange systems Visual schedules Eye gaze picture board Simple single message speech output devices Voice output communication aids (VOCAs)speech generating devices (SGDs) with prestored recordings of natural speech or computer generated speech Specialized software on electronic tablet, smartphone Spelling andor symbol systems to represent language Unaided systems: Do not require special materials or equipment; rely on users body to covey messages. Aided systems: Require the use of tools or equipment; can require power or |
669 | no power. Downloaded for mohamed ahmed (dr.mms2020gmail.com) at University of Southern California from ClinicalKey.com by Elsevier on April 20, 2024. For personal use only. No other uses without permission. Copyright 2024. Elsevier Inc. All rights reserved. 338 Part IV u Learning and Developmental Disorders Some questions to ask regarding current communication behaviors in children with CCN include the following: u What are the various methods your child uses to communicate? Ex amples: wordsspeech, vocalizations, gestures, signing, communica tion board, eye gaze, typing, and so on. u What body part is used for each technique (e.g., leftright hand, eyes)? u On a scale of 1 to 5, how accurately and efficiently is your child able to use this technique? u On a scale of 1 to 5, how well is your child able to use this technique in an interactive, socially appropriate manner? Screening Tools. Various screening instruments exist that help doc ument communication behaviors. These include the Communication Matrix; the Inventory of Potential Communicative Acts (IPCA); and the Social Communication, Emotional Regulation, Transactional Support (SCERTS) Model Assessment, among others. The Com munication Matrix focuses on individuals using any form of com munication (presymbolic or AAC), and the IPCA focuses primarily on presymbolic communicators with physical andor developmental disabilities. The SCERTS Model Assessment focuses on communica tion and social regulation behaviors in verbal and nonverbal children with ASD. Assess Potential to Use or Increase Speech. A key issue in AAC assess ment for children with CCN is whether AAC is needed to augment insufficient speech or serve as a replacement for speech. Parents are often concerned that using an AAC device will negatively affect speech development, as the child will have access to an easier alternative. The use of AAC techniques does not inhibit natural speech; conversely, AAC may enhance spoken language by supporting the development of communicative competence and language skills. Assess Potential for Environmental Adaptations. Modifications of physical spaces or structures may be relatively straightforward or more complex, depending on the specific situation. For example, at home, furniture rearrangement or renovations to adapt the home to accom modate AAC devices may be necessary. In the school, deskstables may need to be raisedlowered or a vertical workspace may need to be cre ated with a slanted board. Specific Issues Regarding AAC for Children with Disabilities Cerebral Palsy Communication impairments are commonly seen in children with CP, both related to impaired (motor) speech intelligibility and lan guage disorders (see Chapter 638.1). The incidence of dysarthria varies depending on the type of CP and degree of motor impairment. Lan guage impairments are associated with intellectual functioning and hearing loss, if present. More than any other disability, communication interventions for children with CP require a multidisciplinary team approach. The wide variety of motor impairments entails the involvement of occupational and physical therapists, orthotics specialists, rehabilitation engineers, and speech language pathologists. Positioning and seating adaptations may need to be developed for optimum stability and to allow efficient movement to access the AAC system. The |
670 | team must consider the wide range of options available and what is necessary to optimally match the child with the system being used. Although up to half of children with CP may be able to access the AAC device through use of a finger, others will need alternative access techniques, including chin pointers, joysticks, optical indicators, or switches. Emphasis on AAC needs to be balanced with other developmental interventions, including speech language therapy, motor development training, and academic instruction. Some will require extensive motor training to be able to use alternative access methods such as eye tracker, head mouse, or a switch for scanning. Although speech, gestures, and facial expressions may be affected as a result of motor impairment, patients should still be encouraged in using these natural modes for communication. A balanced approach supports the use of multimodal systems, which can vary according to the situation. A child with CP may be able to communicate effectively with family members using natural speech and gestures but may need to rely on AAC techniques with unfamiliar partners. Long term planning for adulthood is essential, given the need to rely on AAC devices and techniques that can accommodate the range of demands that are communicative in nature, including interpersonal, academic, and employment demands. Without advance planning, AAC systems are unlikely to meet all these demands, or the individual will not have all the skills required to use the systems. Intellectual Disability As defined by the American Association on Intellectual and Devel opmental Disabilities (AAIDD), intellectual disability (ID; see Chap ter 57) is characterized by significant limitations both in intellectual functioning and adaptive behavior as expressed in conceptual, social, and practical skills. Appropriate supports, including AAC supports, can have a significant impact on the ability of individuals with ID to live and learn successfully in inclusive environments typical of their same age peers. At least 30 of school age individuals requiring AAC supports have an ID. One of the main barriers that exists for children with ID is simply recognizing that the use of AAC can be beneficial and that AAC use should be generalized across settings and not just used in highly structured settings such as school. Although most youth with ID do not engage in socially inappropri ate behaviors, problem behaviors occur more frequently in this popula tion compared to those without ID. Many individuals with ID do not use speech as their primary mode of communication, and problem behaviors can be exacerbated by difficulty communicating. Many of the strategies used to support individuals with ID involve AAC strate gies such as visual schedules or those used to teach choice making and functional communication training. The nature of interventions directed at both natural speech develop ment and AAC varies considerably given the diversity of syndromes and conditions that result in ID. Many individuals with ID may have multiple diagnoses that affect the nature of their intervention needs. Autism Spectrum Disorder ASD (see Chapter 58) is a highly variable disorder; individuals with |
671 | ASD experience a wide range of complex issues related to language and communication, which presents challenges regarding speech based and AAC interventions. Individuals with ASD and ID may require more extensive educational, behavioral, and community supports compared with those without ID, but those without ID still require supports in the core area of social communication. Language forms are the language structures and vocabulary (e.g., grammar, syntax). Language function refers to what individuals do with language as they engage and interact with others. Because ASD affects the nature of communication as a social mediator, it is important that AAC interven tions emphasize the function, or pragmatic aspects of communication, as well as the communication aspects related to the form of language. Interventions must start at the individuals level of social, com municative, and cognitive development and build skills in a natural developmental progression. The development of dynamic, interactive communication is critical, and the child with ASD needs to learn to use communication skills related to functional activities in daily life. The developmental profiles of youth with ASD are often characterized by an uneven distribution of skills. Children with ASD often perform much better with object permanence and tool use (causality) than those areas requiring interpersonal interaction, such as gestural or vocal imitation, symbolic understanding, or language comprehension. Therefore AAC interventions must be geared to the childs social and linguistic abilities rather than the childs object abilities (e.g., fine motor skills or object manipulation skills). Manual sign or pictorial systems (PECS) are often recommended for nonverbal children with ASD. This often presumes that the problem is only one of output and that communicative intent is intact; however, the child may not have the language or the social base on which communication must be built. Therefore interventions should initially build imitation, joint attention, and natural gestural communication skills before initiating formal language based AAC or speech approaches. Downloaded for mohamed ahmed (dr.mms2020gmail.com) at University of Southern California from ClinicalKey.com by Elsevier on April 20, 2024. For personal use only. No other uses without permission. Copyright 2024. Elsevier Inc. All rights reserved. Chapter 55 u Outcomes Among Infants and Children Who Are DeafHard of Hearing 339 SGDs and other speech output technologies can be used effectively in children with ASD to teach both communication and literacy skills. SGDs can act as a social bridge to familiar and unfamiliar communi cative partners. They can be programmed with whole messages (e.g., do you want to play) in addition to single words and phrases and thereby increase communicative efficiency and decrease potential communication breakdowns. These output devices are available via touch screen tablet and mobile devices. Childhood Apraxia of Speech ASHA defines childhood apraxia of speech (CAS) as a neurologic speech sound disorder in which the precision and consistency of movements underlying speech are impaired in the absence of neuro muscular deficits. Given consensus on diagnostic criteria is lacking, ASHA recommends that the term suspected CAS be used. There is consensus on motor speech behaviors in three |
672 | areas: (1) inconsistent errors on consonants and vowels in repeated syllables or words; (2) lengthened, disrupted transitions between sounds and syllables; and (3) inappropriate prosody of speech (see Chapter 53). Given CAS is primarily a motor speech disorder, AAC is usually a sec ondary intervention, with the primary intervention focused on improv ing natural speech production. Because children with CAS often evidence significant language delays related to the inability to practice language, it is important to provide them with AAC modalities early on. The use of AAC will not inhibit speech development and production, and generally use of AAC supports result in increased mean length of utterances for the child. Children with suspected CAS who benefit from traditional AAC are those who primarily speak in single words, have largely unintelligible speech, and are not able to effectively communicate with family members, peers, and teachers. The children benefit from a wide range of AAC, from unaided techniques including gestures and signs and aided techniques such as PECS communication books andor SGD. It is important that the AAC device facilitates both language development and social competence. The AAC system should be designed so that the child learns to create longer and more complex messages that are grammatically accurate. Children with suspected CAS who can produce single word utter ances but struggle with multiword speech often benefit from AAC speech supplementation. This supplementation may be in the form of key sym bol supplementation, in which they point to key symbols in conjunction with speech. This can help with topic settingwhen the child introduces a new topic of conversation, they point to a symbol, which helps narrow the range of possibilities for the communication partner. Often children with suspected CAS prefer to use natural speech and unaided approaches, using aided AAC techniques only when communication breakdown occurs. Special Considerations Reimbursement and Funding. The AAC specialist (usually a speech language pathologist) should be familiar with public and private funding options. Funding can come from schools, third party payers (private or public insurance companies), or philanthropic sources. Low tech AAC systems are usually developed by a speech language pathologist and do not usually require additional funding. SGDs are considered durable medical equipment (DME), and funding can vary immensely. Coverage will need to be verified based on the patients specific needs and insur ance. Pediatric care providers are often asked to sign prescriptions and or write letters of medical necessity for an AAC device. This should be done only after conferring with the AAC team members, especially the speech language pathologist. The letter should include that the pediat ric provider received the evaluation reports, reviewed the recommen dations, and agrees that the recommended AAC devices are medically necessary for treatment of the childs CCN associated with the specific diagnosis. SGD vendors are often able to assist with funding questions. The Assistive Technology Act. The Assistive Technology Act of 2004 provides all U.S. states and territories with federal funding to increase access to AT devices and services. This |
673 | information can be found at the National Assistive Technology Act Technical Assistance and training (AT3) Center (https:www.at3center.netstateprogram). Visit Elsevier eBooks at eBooks.Health.Elsevier.com for Bibliography. See also Chapter 677. Approximately 3 in every 1,000 infants in the United States are born deaf or hard of hearing (DHH). Additionally, for infants who pass the newborn hearing screening, there are a number of risk factors for developing delayed onset hearing loss at any time during infancy and childhood. Given that the large majority of deaf infants are born to hearing parents, there is the potential for a developmental crisis when an infant or child does not have an accessible shared language in com mon with their parents. Acquisition of ones first language is a phenomenon of early devel opment (see Chapter 53). The first months and years of a childs life are critical to developing an intact native language. When the process of language acquisition is delayed or fragmented, as can happen with an infant who is DHH, it can have a significant and permanent effect on overall lifetime cognitive development. Timely identification and support of infants and children who are DHH, including the provi sion of early access to language, is critical to the lifetime trajectory of outcomes, including language, pragmatics, academic success, executive functioning, and psychosocial well being. DEAF CULTURE It is important to recognize that we as authors do not speak for Deaf individuals or parents of DHH children but seek to bring awareness of some fundamental norms as a starting point for increasing famil iarity and collaboration with these groups. Readers are encouraged to explore the resources cited in this chapter, as well as information pro vided by Deaf individuals and parents of DHH children themselves. Among individuals in America who are DHH, there is a subset who self designate as culturally Deaf (intentionally spelled with an uppercase D) who share American Sign Language (ASL) as their pri mary means of communication and a set of beliefs and traditions that are transmitted across generations. In the United States, the National Association of the Deaf is the organizational body that supports and represents this cultural Deaf community, with a mission to preserve, protect and promote the civil, human and linguistic rights of deaf and hard of hearing people in the United States of America. There is a potential conflict between the hearing medical commu nity and the culturally Deaf community, with the medical community traditionally operating from a pathology model (identify and fix the problem) and the Deaf community operating from a sociocultural one (there is no problem in need of fixing). Hearing parents and profes sionals whose societal existence is grounded in listening and spoken language often view being DHH as a limitation to interpersonal con nection, education, and vocation. Deaf individuals, who achieve virtu ally all the same milestones as hearing individuals do by using a visual language medium, do not view being DHH as a loss. Among cultur ally Deaf individuals, the terms hearing loss and hearing |
674 | impaired are often viewed as inaccurate and potentially offensive. For those who were born deaf, the experience of hearing is something they never had and therefore have never missed. It is not something that holds them back, but instead is a source of maintaining a positive self identity and pride in ones culture and community. Hearing clinicians caring for deaf infants and children or members of the Deaf community must practice with the cultural humility necessary to appreciate the perspectives of the Deaf community (see Chapter 2). Chapter 55 Outcomes Among Infants and Children Who Are DeafHard of Hearing Susan E. Wiley and Rachel D. St. John Downloaded for mohamed ahmed (dr.mms2020gmail.com) at University of Southern California from ClinicalKey.com by Elsevier on April 20, 2024. For personal use only. No other uses without permission. Copyright 2024. Elsevier Inc. All rights reserved. 340 Part IV u Learning and Developmental Disorders Including access to Deaf individuals as part of healthcare teams involved in the care of DHH infants and children is an important first step in including this cultural perspective in health service delivery and decision making. It is also important to recognize the concept of intersectionality (the interconnected nature of social categorizations such as race, ethnicity, class, and gender), which plays a role in the Deaf community. Being Deaf and Black is not just the sum of the experiences of Deaf individu als and Black individualsthe two constructs existing simultaneously in the same person makes for a unique life experience. Intersectionality is recognized within the context of the Deaf Plus community because those individuals do not simply experience life as a Deaf person who also happens to have an additional condition. The interplay of these aspects of individuals is a critical part of identity formation, self esteem, cultural engagement, potential experiences of disadvantage discrimination, and personhood in general. EARLY DETECTION AND LANGUAGE DEVELOPMENT Deaf children who are born to deafsigning parents are natively exposed to sign language from the first day of life and subsequently can be expected to acquire sign language milestones in a predictable manner similar to typically developing hearing children acquiring spoken language milestones. Deaf children of signing parents achieve their first signs, vocabulary expansion, combining of two discrete sign concepts, progression to more complex phrases and sentences, and other language related milestones at expected ages if assessed in sign language. However, more than 90 of deaf infants are born to hearing parents who most often do not sign fluently. This creates an immediate and significant loss of a shared intact language. Families will turn to professionals for advice on making decisions regarding language, edu cation, amplification technology, and social engagement. Sometimes these clinicians make false assumptions that delay detection or inter vention for children who are DHH (Table 55.1). Clinicians should be aware that although language delay may be a presenting symptom in a DHH child, being deaf in and of itself does not inherently cause delayed language development. Rather, the inabil ity for a parent and |
675 | an infant to share a common accessible language creates a barrier to the development of language. This is why early iden tification and support are critical for DHH infants to support language access, whether to spoken language through amplification and therapy or access to sign language (or both). Even children who have passed their newborn hearing screening who have language delays must have a full audiologic evaluation, as a substantial number of factors can con tribute to delayed onset hearing loss (DOHL) at any time during early, middle, or late childhood. Parental concern about language delay or responsiveness of their child is a sensitive, but not specific, indicator of possible hearing loss. It is important to respond to parental concerns of hearing or language with referrals for hearing assessment, language evaluation, and ageappropriate therapeutic support systems. Clinicians should also consider the possibility of hearing loss in young children with other behavioral changes. An older child may report a sudden dramatic hearing loss. However, younger children may not have the linguistic capacity or awareness to describe loss of hear ing and may present instead with changes in behavior (being upset, aggressive, withdrawn). Some children with a progressive or sudden change in hearing status may appear to have a behavioral condition such as attention deficithyperactivity disorder (ADHD) or may be described as defiant. Children with unidentified hearing changes and children with ADHD can share behaviorsthey are perceived as not paying attention, they often are not aware of what is happening in the moment, they may not respond as expected when being addressed, and they may not focus on the things that are being discussed. Another problematic issue known as diagnostic overshadowing can occur when all developmental or behavioral challenges are attributed to one cause (in this case, hearing status) when the symptoms should suggest the possibility of another disorder. For example young neuro typical DHH children who have adequate access to language (through amplification technology and spoken language, sign language, or a combination of both) should not automatically be expected to have substantial challenges with language development, behavior, and social engagement. If clinicians reflexively attribute delays in social and lan guage development to the fact that the child is DHH, they may miss the diagnosis of a developmental disorder when they would not have missed the diagnosis in a hearing child. Sign language has many benefits for DHH infants and children and should not be regarded as an inferior last resort only to be used if spoken language efforts are not successful. ASL is a full and complex language. Much of the grammatical structure and concept complexity in ASL is conveyed through spatial placement of signs and body movements. Body movements can include body lean and eyebrow shift to indicate a question, furrowing of the brow and pursing of lips to convey negation, and shifting of body position in space to define multiple individuals involved in conversation, to name a few. The active discouragement of using visual language with any D HH |
676 | child is a developmental disservice, particularly so with the pro foundly deaf infant whose hearing level is too low to benefit from traditional hearing aids. For these infants, a cochlear implant is likely the only potential route for accessing spoken language input, and the earliest that the Food and Drug Administration (FDA) cur rently approves cochlear implantation is 9 months of age. There remains a number of children who are not achieving such early ages of cochlear implantation. Lack of access to sign language can mean up to a year or more of complete lack of accessible linguistic input during a period of cortical development when language input is critical; that lack of language input can in turn affect infant bonding with parents. Even after cochlear implantation, it takes a substantial amount of therapy (auditory verballistening and speech language therapy) to build spoken language skills. Table 55.1 Common False Assumption About Deaf or Hard of Hearing (DHH) Infants and Children FALSE ASSUMPTION ALTERNATIVE APPROACH Being DHH causes language delay. Often, the parent and deaf infant do not share a common language, creating a language barrier leading to delays. Early identification (by 1 3 mo of age) and intervention by 6 mo of age are critical for language development. Passing newborn hearing screening tests means one does not need to be concerned about hearing. Many factors can cause delayed onset hearing loss. A full audiologic evaluation is indicated for any caregiver concern about hearing or for delays in language developmenta wait and see approach is never indicated. All behavioral symptoms or developmental delays are caused by the hearing loss. Young neurotypical deaf children with adequate access to language through amplification and spoken language, sign language, or both should not be expected to have challenges in development, behavior, or social engagement. Referral for evaluation is essential if these symptoms are present. Sign language is a last resort for communication for DHH infants or children. American Sign Language (ASL) is a full and complex language with a clear syntax and grammar structure. Learning sign language can promote language development when children cannot access spoken language during a period when this input is critical for cortical brain development. Downloaded for mohamed ahmed (dr.mms2020gmail.com) at University of Southern California from ClinicalKey.com by Elsevier on April 20, 2024. For personal use only. No other uses without permission. Copyright 2024. Elsevier Inc. All rights reserved. Chapter 55 u Outcomes Among Infants and Children Who Are DeafHard of Hearing 341 INTERVENTIONS Supporting children who are DHH requires a combination of a proac tive approach to care, ongoing monitoring for delays in all developmen tal domains, and timely recognition and intervention of gaps that can occur because of the impact of hearing status on language and overall development. There is a tendency, especially for those who are not familiar with D HH children, to assume that a child who does not hear will have reduced developmental outcomes compared to their hearing peers. There is robust evidence supporting the importance |
677 | of early identification and intervention for long term outcomes in children who are DHH. A childs developmental and learning potential should not be defined by their hearing; clinicians should encourage and support families high expectations for a childs development regardless of hearing status. The medical home can fill a critical role in supporting a familys journey, though often primary care providers have relatively few children who are DHH in their practice and may not be well versed in how to monitor the medical and psychosocial needs of a DHH child. This prompts the need to seek out information from a variety of sources and link families with reputable information. Because DHH is a low incidence condition, it is challenging for one setting (early interventionbased, school based, clinical based) to include a variety of children and match appropriate com munication approaches. Interventions can be categorized in a variety of ways. A framework for various communication approaches is commonly used for understanding how to support language development in children who are DHH (Table 55.2), including technology and environmental modifications. Communication Approaches Often different approaches to communication are presented as a choice to make during the early years of critical language growth. Many communi cation approaches have passionate national organizations advocating for a specific approach (Table 55.3). The educational philosophy known as total communication is often misunderstood to mean using both signing and spoken language; however, it refers to incorporating an array of communi cation modalities (formal signs and fingerspelling, gestures, body language, lip reading, speaking, listening), with the goal of optimizing language development that is tailored to be most effective for the individual child. We have chosen to refer to the national organizations and the Cen ters for Disease Control and Prevention (CDC) to guide definitions of communication approaches (see Table 55.2). Each approach has specific components needed for successful implementation and lan guage outcomes. The overall goal to support communication develop ment can be an unfolding journey. Choices and strategies that worked well for a child in early childhood may not be as effective as the child matures, particularly as social engagement and academic demands evolve with age and advancement in school. Thus it is important for families to recognize that communication needs can change over time, prompting a shift from a prior decision to an alternative approach. Technology Hearing Aids Hearing aid technology is very refined. Hearing aids are essentially mini computers that take sound from the environment and are programmed to adjust how this sound is processed and delivered to the ear. Hearing aids have a number of different features that can augment the quality of sound a child will hear. Hearing aids can analyze the sounds coming into the device and preferentially reduce background noise. They can compress sound waves to preferentially make soft sounds louder and try to avoid distortion of loud sounds (wide dynamic range compres sion). Hearing aids can have microphones that can receive sound from many directions or focus primarily on sounds coming from |
678 | in front of a child. A hearing aid can also carry a variety of programs for differ ent listening settings. This allows a child to have a different program for a quiet environment compared to a noisy environment. Technol ogy can also include Bluetooth to link to other devices. There are a number of apps to help monitor battery life and adjust the program for the setting through the app. Follow up care with audiology is impor tant to ensure continued supports for any amplification used and to monitor for changes in hearing. For children with conductive hearing changes, bone conduction aids may be indicated. These devices bypass the outer and middle ear, conducting sound through the skull directly to the cochlea and auditory nerve. When children are 5 years or older, they can be considered for a surgically implanted bone conduction aid called a bone anchored hearing aid (BAHA). These devices also have the capacity to link to a frequency modulation (FM) system. It is helpful to remember that even with advancements in tech nology, what children hear with hearing aids is not the same as what people hear with a typically functioning auditory system. It is equally important to consider environmental supports to optimize Table 55.2 Communication Approaches for Children Who Are Deaf and Hard of Hearing (DHH) COMMUNICATION MODALITY DESCRIPTION CITATIONORGANIZATION American Sign Language (ASL) ASL is the recognized sign language of the deaf community in the United States. ASL conforms to linguistic principles and is distinct from English. National Association of the Deaf (https:www.nad.orgabout usposition statementsposition statement on american sign language) Conceptually Accurate Signed English (CASE) Using conventional ASL signs in an English word order. https:www.cdc.govncbdddhearingloss parentsguidebuildingcase.html Manually coded English Signing Exact English is an example of a manually coded English. It is a sign system that matches signs with the English language and includes manual representation of all components of the English language. www.signingexactenglish.com FingerspellingRochester method The Rochester method was intended to support English literacy and uses fingerspelling for all words. Cued Speech Cued Speech is a visual communication system that uses eight handshapes in four different placements near the face in combination with the mouth movements of speech to make the sounds of spoken language look different from each other. National Cued Speech Association (https: www.mdaap.orgpdfCuedSpeech.pdf) Spoken language and listening Children learn to listen and talk with the support of hearing technology such as hearing aids, assistive listening devices (such as an FM system), or cochlear implants. Auditory oral approaches include gestures, listening, speech lip reading, and spoken speech. Auditory verbal relies on listening and spoken speech. Communication Options (https:www.agb ell.orgFamiliesCommunication Options) Centers for Disease Control and Prevention: How People with Hearing Loss Learn Language (https:www.cdc.go vncbdddhearinglosslanguage.html) Downloaded for mohamed ahmed (dr.mms2020gmail.com) at University of Southern California from ClinicalKey.com by Elsevier on April 20, 2024. For personal use only. No other uses without permission. Copyright 2024. Elsevier Inc. All rights reserved. 342 Part IV u Learning and Developmental Disorders Table 55.3 Resources for Families |
679 | and Professionals NATIONAL ORGANIZATIONS: FAMILY SUPPORT Hand and Voices (www.handsandvoices.org) Supports families and children without a platform providing a specific mode of communication. National Association for the Deaf Advocates for use of American Sign Language and represents the culturally Deaf community. Alexander Graham Bell Association for the Deaf and Hard of Hearing (www.agbell.org) Advocates for people who are DHH to hear and use spoken language. Beginnings (www.ncbegin.org) Promotes language accessibility through cued speech (see Table 55.2). American Society for Deaf Children (www.deafchildren.org) DEAF HISTORY AND CULTURE The National Association of the Deaf https:www.nad.orgabout us Deaf Heritage: A Narrative History of Deaf America This 1981 book by Jack Gannon, a Deaf author and historian, is often referred to as a canon of Deaf culture in the United States. The book covers a number of events throughout history, including the establishment of schools for the deaf and the inception of the National Association of the Deaf and explores topics such as American Sign Language, Deaf artists, Deaf sports, and seminal Deaf publications. Through Deaf Eyes A 2007 documentary covering close to 200 years of being Deaf in the United States in a 2 hour run time through a diversity of interviews, movie shorts, and stories that capture the events that have affected Deaf lives throughout American history (https:www.youtube.comwatch? vPL5d8kyZUQk). DEAF MENTORS The National Center for Hearing Assessment and Management Houses a directory of DHH adult involvement programs by state (https:www.infanthearing.or gdhhadultinvolvementstatesindex.html) SKI HI Deaf Mentor Program Curriculum for infants and young children who are DHH (http:www.deaf mentor.skihi.org) Hand and Voices Deaf and HH MentorGuide Role Model Programs https:handsandvoices.orgfl3topicsdhh involvementprograms.html American Society for Deaf Children: Deaf ASL Ambassadors Program https:deafchildren.orgknowledge centerasl resourcessign on PRACTICE GUIDELINES American Academy of Pediatrics Early Hearing Detection and Intervention Program https:www.aap.orgenpatient care pages in progressearly hearing detection and intervention EHDI National Technical Resource Center https:www.infanthearing.org The Joint Committee on Infant Hearing www.jcih.org listening environments. Contralateral routing of signal aids (CROS) can be helpful for children with unilateral profound deafness. This amplification system uses a transmitter at the ear that does not hear and routes it to a receiver on the typically hearing ear. Assisted lis tening devices such as FM systems are used to help address prob lems hearing in background noise and when speakers are farther away. This system has a small transmitter with a microphone. The speaker wears the transmitter, and this then links directly into head phones or a personal amplification system (hearing aid or cochlear implant). FM systems are traditionally used in the classroom set ting, although they may be employed in other settings that tend to have competing background noise such as restaurants or when the focus on a particular individual speaking is important. The teacher may also use a transmitter with microphone that links to a number of speakers around the room (soundfield system). In this way, the accommodation is available to all students in the classroom, may benefit children easily distracted by background noise as well as the DHH student, and |
680 | does not single out the DHH child alone. Cochlear Implants Cochlear implants are surgically implanted devices that bring direct electrical stimulation to the cochlea. These devices are FDA approved for children 9 months and older with profound sensori neural hearing loss and in lesser degrees of hearing changes (70 dB or more) when children are not receiving adequate benefit from traditional amplification. A period of hearing aid trial is recom mended before implantation. In children with hearing loss caused by meningitis, it is important to monitor for bony changes in the cochlea via imaging. Early signs of ossification would prompt ear lier cochlear implantation to ensure the electrodes are in an opti mal position to stimulate the auditory nerve. Even for children who are bilaterally profoundly deaf, there can be reasons that a cochlear implant is not appropriate. For example, absence of an auditory nerve would preclude pursuing an implant. Often pediatric cochlear implant centers use a multidisciplinary approach to determining cochlear implant candidacy and to ensure strong follow up support. In the past, children with developmen tal disabilities were deemed not appropriate for cochlear implanta tion, as results were thought to be limited. Although outcomes can vary in this group of children, a developmental disability alone does not preclude receiving benefit from the device. Ensuring global developmental supports, addressing potential expectations and outcomes, and linking children and families to resources can help children gain benefit from access to sound. Coordination of care and follow up is essential in all children with cochlear implants. They initially will see audiologists at fre quent intervals to program the implant, and speech therapy is a crit ical and ongoing component of fostering success with an implant. At the age of 2 years, they should receive the 23 valent pneumo coccal vaccine to ameliorate the increased risk of meningitis. The Downloaded for mohamed ahmed (dr.mms2020gmail.com) at University of Southern California from ClinicalKey.com by Elsevier on April 20, 2024. For personal use only. No other uses without permission. Copyright 2024. Elsevier Inc. All rights reserved. Chapter 55 u Outcomes Among Infants and Children Who Are DeafHard of Hearing 343 medical home can play an important role in managing this addi tional immunization, as well as in monitoring medical issues and developmental progress. Early implantation has been associated with better hearing, speech perception, and spoken language outcomes, as it ensures early stimula tion of the auditory cortex necessary for the development of spoken language. Although FDA approval is for children 9 months and older, there are situations where earlier implantation is indicated, and many in the field of pediatric audiology and pediatric otology are advocating for earlier implantation. Unilateral deafness is another emerging indi cation for cochlear implantation in children. Other Supports and Factors Influencing Amplification Decisions The cost of amplification devices can be quite high. Many insurance plans do not cover hearing aids, though more cover costs associated with BAHAs and cochlear implants. Services and coverages vary by state and insurance plan. Families often need |
681 | to obtain insurance or additional coverage to cover replacement costs associated with damage or loss of the device. Technology updates can also add fur ther expenses. There are also many day to day factors that affect a childs accep tance of amplification. In early childhood there is rapid growth of the skull and ear canal. With hearing aids, children often need to return to audiology frequently to resize the ear molds to ensure a good fit. Children also can become very adept at removing their hearing aids. Young children in daycare are particularly vulnerable to potentially losing their amplification when rolling, crawling, or playing or when naturally curious peers and playmates attempt to take them. Parents, caregivers, and teachers routinely checking on hearing aidscochlear implants is a critical support to using ampli fication technology successfully in young children. A number of environmental supports can be helpful. For families seeking a spoken language approach, it is helpful to decrease back ground sounds. Turning off TVs and devices can help children be able to listen and hear what is said. Children often struggle hearing speakers from a distance. This affects incidental learning, as they have fewer opportunities to overhear peripheral conversations. Families are often coached in ways to optimize their childs listening environment and ways to highlight spoken language and concepts. Technologic support can include captioning on the television, video relay with sign language interpreters, texting, speech to text, visual fire alarms, and vibrating alarms. These types of technologies are often not covered through insurance, although some state agen cies have programs to help defray costs. Other accommodations for communication access can include sign language interpreters, cued speech interpreters, and open captioning. The Americans with Disabilities Act ensures children, adolescents, and adults have the legal right to communication access. This is particularly important in medical settings. Family members should not be asked to serve as interpreters for the child, as this limits the ability for the parent to listen and be part of the conversation or may limit the childs access to the conversation at hand. LANGUAGE LEARNING Language is a critical component of the human condition and allows connection with others. The United Nations has recognized communi cation as a human right. Communication happens in many ways that can include behavior, nonverbal communication, tone, facial expres sions, words, and sentences. These aspects of communication are uni versal irrespective of mode of communication. Promoting language development needs to focus on far more than the ear and hearing. As in typical children, the quality and quantity of com munication are important (see Chapter 53). Additionally, children who are DHH are at high risk of missing learning via the unwritten curricu lum: social and cultural learning that occurs incidentally and passively. Hearing children repeatedly overhear conversations that do not directly include them but are related to them, such as when their parents talk to the pediatrician about their care or how the parents interface with office staff when they schedule the next appointment. DHH |
682 | children are vul nerable to missing years, if not decades, of incidental learning regarding everyday interactions. Direct teaching of incidental information, or mak ing the implicit explicit, is a tenet of supporting the language development of children and youth who are DHH. In the medical setting, this can be addressed for the signing DHH child by having a sign language inter preter present to ensure the child can build an understanding of their own health history and expand health literacy, even if they may be too young to engage in the conversation directly. Although it may feel more com fortable and efficient to get information directly from parents, it is critical for the provider to engage the child directly as much as possible to maxi mize their involvement in their own plan of care. Addressing incidental learning for children who are DHH should occur regardless of mode of communication. As families hold an important role in their childs language devel opment, building and empowering families in the development of skills and strategies is an important component of early intervention. Within the field of early intervention, coaching parents on how to engage and interact with their child to promote optimal development has been noted to be effective for a number of populations of chil dren. Communication is interactional, and coaching puts the family in the position of providing the intervention and thus builds skills to support their child. When a Child Is Not Progressing If a childs language development is not progressing, it is necessary to reevaluate factors that could contribute to language develop ment. Factors to consider include problems with devices that have not been fully optimized, aspects of access to language, and coex isting medical, developmental, or behavioral conditions impacting learning. In evaluating a childs access to language, consider how the child is learning, the language environment, and whether a child is getting a quality language model for learning. If a communication modality is pursued that cannot be supported across the environments the child is in (e.g., school, home, community based organizations), the DHH child can lag behind their peers. Overt problematic scenarios include a deaf child without good acoustic access attempting to learn spo ken language or a child learning sign language but with limited sign language proficiency in their home, community, and school environ ments. Regression of language should prompt reevaluation of hearing and consideration of braincentered as opposed to hearingcentered problems with learning. A childs response to a communication approach may be affected by broader developmental issues. A child may have a unique learn ing profile and benefit from alternative approaches to language based learning. Whereas children who are DHH often have strong visual problem solving skills, some children who are DHH are stronger in the auditory domain. Although it should not be auto matically assumed that a DHH child will have developmental delay, up to 40 also have a developmental disability or condition that can affect progress. Early recognition of a childs broader needs can |
683 | help ensure children receive effective interventions for all of their needs. ACADEMIC CONSIDERATIONS The Individuals with Disabilities Education Act (IDEA) ensures a free, appropriate public education for all students with disabilities, including those who are DHH. This law recognizes the right to be educated within the least restrictive environment (LRE), or to the maximum extent that is appropriate, education with their peers who do not have disabilities. This must be balanced with the indi vidual students communication, linguistic, academic, social, emo tional, and cultural needs. Because of the varied settings and range of communication support needs, as well as the diversity of indi vidual student strengths, endorsing one specific educational setting is not possible or appropriate. Reading and literacy skills are associated with language fluency levels and tend to be improved by early age of identification and intervention. Standardized achievement testing from the early Downloaded for mohamed ahmed (dr.mms2020gmail.com) at University of Southern California from ClinicalKey.com by Elsevier on April 20, 2024. For personal use only. No other uses without permission. Copyright 2024. Elsevier Inc. All rights reserved. 344 Part IV u Learning and Developmental Disorders 2000s demonstrated that only half of DHH high school graduates were reading above a fourth grade level. However, these data are old and do not control for varying factors across students such as coex isting medical or developmental conditions, delays in identification and early language access, and varying teaching methodologies. Academic outcomes are likely to be optimized with early identifica tion and support of language in infants who are DHH and with the prompt recognition of, and support for, other developmental or behavioral challenges that may interfere with learning. PSYCHOSOCIAL WELL BEING An important consideration for any individual is psychosocial well being. Because the population of DHH individuals is heter ogenous, it is difficult to make overarching statements regarding mental health and wellness. Hearing loss in the elderly has been associated with depression. This is dueat least in partto the loss of connection and communication with others. Similar effects can be seen across the life span for deaf individuals who did not develop enough formal language to communicate effectively. Studies have linked a lack of language proficiency with in patient psychiatric care in adults and psychosocial difficulties in children. A large scale study in Taiwan spanning over a decade estimated an 11.1 lifetime prevalence of clinically diagnosed unspecified anxiety disorder in the DHH group, which was twice the incidence in the hearing con trol group. A phenomenon described by some DHH individuals, deaf anxi ety, is related to interpersonal challenges a DHH individual can experience when interfacing with a largely hearing society. Although advances in technology with hearing aids and cochlear implants continue to improve access to audiologic input, it is important to consider that these are tools with inherent limitationsthey are not an equivalent replacement for natural hearing. DHH adults have described fears such as missingmisunderstanding information, concern with appearing not to be interested in or not paying atten tion to someone speaking, |
684 | disproportionately increased difficulty when dealing with noisy environments, and worry about missing significant information in nonaccessible environments such as being unaware that a fire alarm has gone off if there is no visual indicator in addition to the sound alarm. The experiences of a deaf person in a predominantly hearing world contribute to the critical journey of identity formation for D HH children as they become young adults. Deaf children, regardless of their success with technology, are still deaf. When a child takes off their hearing aids or cochlear implants to take a bath, swim, or rest, they are deaf. The technology does not change who they are fundamentally. Supporting families in their efforts to understand, accept, and value their child as a deaf individual can provide resil ience for identity formation in adolescence. There also needs to be recognition that families are necessarily thrust into a position of making decisions for their young DHH child with the knowledge they have at the time and may have concerns about how their child as an emerging adult may feel later on about those decisions. Fami lies can benefit tremendously from access to programs that can con nect them with other deaf children, deaf adults, and community resources that support a variety of ways to exist as a successful deaf individual. DEAF PLUS It is helpful to recognize that some of the risks associated with being DHH are also risks for other conditions that impact functioning in children who are DHH (Table 55.4). It is important to look beyond hearing status as the reason for delays so as not to miss other factors contributing to a childs slow rate of progress. Delayed recognition of these factors causes delays in accessing effective intervention strategies. Conversely, the presence of specific coex isting conditions should not be assumed to predict functioning or decisions about communication. A child who is deaf and also has cerebral palsy should not be assumed to be unable to use sign lan guage because of impact on handarm movements, as these children may use sign language receptively for language understanding quite well. The need for individually tailored care and education plans is particularly critical in children who are Deaf Plus. Children who are DHH have vision changes at nearly twice the rates compared to the general population. Vision differences are important to detect, as children who are DHH often rely on their vision for accessing information. Even among children who receive effective amplification and good acoustic access to information, some reliance on lip reading and visual attention to the speaker can enhance a childs ability to process information. There are no spe cific standards regarding the timing and frequency of ophthalmologic evaluations and monitoring intervals, but it is important for all chil dren who are DHH to have regular monitoring of vision and eye health with a pediatric eye care specialist. For children who have both hearing and vision changes (Deaf Blind), intervention strategies can be increasingly complex. IDEA specifically defines |
685 | DeafBlindness as concomitant hearing and visual impairments, the combination of which causes such severe communication and other developmental and educational needs that they cannot be accommodated in special education programs solely for children with deafness or children with blindness. When the two conditions are present simultaneously, there are additional challenges to be considered regarding language access and acqui sition. Each state has a federally funded DeafBlind project that provides resources and technical assistance to support children identified as DeafBlind. For children who are DeafBlind, many are advocating for interveners. Interveners are more than interpreters: they facilitate communication and inclusion and address social and emotional needs within educational settings. FAMILY JOURNEY Each family has a unique narrative to their overall family experience, as well as a specific pathway to supporting the growth and development of their DHH child. Some families experience profound grief around the loss of an expected parenting story. Many families speak of being over whelmed initially by an immense amount of information and pressured to make crucial decisions in a timely manner. Others move into an advo cacy model and have their own unique take on the parenting journey. One Table 55.4 Rates and Types of Disabilities Among Children Who Are DHH and Within the General Population TYPE OF DISABILITY DHH () GENERAL POPULATION () No developmental disability 60 83 Cognitiveintellectual disability 8.3 1 Cerebral palsy 8 0.3 Blindness and vision impairment 5.5 0.3 Attention deficithyperactivity disorder 5.4 9 Specific learning disability 8 7 Autism spectrum disorders 7 1.7 Downloaded for mohamed ahmed (dr.mms2020gmail.com) at University of Southern California from ClinicalKey.com by Elsevier on April 20, 2024. For personal use only. No other uses without permission. Copyright 2024. Elsevier Inc. All rights reserved. Chapter 55 u Outcomes Among Infants and Children Who Are DeafHard of Hearing 345 Table 55.5 Approaches in the Medical Home to Support the Family Journey FAMILY JOURNEY THEMES CONSIDERATIONS AND STRATEGIES Family centered decision making: Ensure families are central in decision making Before the visit: Physician reflection on their own knowledge, expertise, and biases At the visit: Listen to family concerns actively and address concerns, referring to others when outside provider expertise is necessary Families need for informed choice Before the visit: Recognize that each family and child are unique and decisions may vary across families Recognize that decisions may change over the life span of the child Recognize the passion across communication modalities, which drive potential biases in information and guidance At the visit: Listen actively to understand the familys values and intended goals and outcomes Collaboratively seek information from a variety of reputable sources and discuss potential biases across various experts in the field (see resource list) Incorporate the familys values in an action plan together Refer to experts as appropriate Family to family support: Because having a child who is DHH can feel isolating and professionals do not carry the same day to day experiences, family to family connection is an important component of support Before the visit: Recognize the importance |
686 | of family to family support Identify resources to link families with other families (see resources) During the visit: Discuss the possible isolation families face Determine interest and readiness for family networking Share resources that they can rely on when ready to reach out Access to DHH adults: To support the familys recognition of what success can be and to provide children with a conceptual framework for DHH individuals as adults Before the visit: Recognize families may be experiencing grief over the loss of their childs expected future and that experiences with other individuals who are DHH may be limited or nonexistent Identify resources to link families with Deaf adults and Deaf mentoring programs (see Table 55.3) During the visit: Discuss familys hopes and fears Highlight the importance of high expectations for their child Discuss ways to promote identity, connection, and independence for their child Child interactions and supports Before the visit: Recognize the variability and uniqueness of children who are DHH in terms of capabilities, skills, and opportunities At the visit: Engage DHH children directly rather than rely solely on family members for interpreting communication; for children who use sign language, access to an interpreter is a right under the Americans with Disabilities Act Recognize childrens strengths and resilience Ensure children have access to their own health information (at their developmental level) and have the opportunity for inclusion in decisions as appropriate Advocate with children and families to have high expectations for skills, recognizing that often medical and educational settings use a deficit model (the child must be behind) to access supports simply has to take a look at some of the family stories that are available in the public realm to appreciate the diversity of the family experience in raising a DHH child. A number of parent support organizations are available to families, some of which are organized around specific communication philoso phies (see Table 55.3). The pediatrician may be the first medical professional that families turn to if there is concern about language development andor hearing. Although these physicianfamily relationships are often just as diverse as the families themselves, some universal concepts start to emerge when listening to parent stories (Table 55.5). Recognizing these themes and identifying ways to partner and support families is a critical role of the medical home. ACKNOWLEDGMENTS The authors extend their gratitude to Chris Moreland, MD, and Robert Nutt, MD, for their input from the deaf adultdeaf professional per spective, and to Lauren Tyra, PhD, for her input from the perspective of a parent of a deaf child. Visit Elsevier eBooks at eBooks.Health.Elsevier.com for Bibliography. Downloaded for mohamed ahmed (dr.mms2020gmail.com) at University of Southern California from ClinicalKey.com by Elsevier on April 20, 2024. For personal use only. No other uses without permission. Copyright 2024. Elsevier Inc. All rights reserved. 346 Part IV u Learning and Developmental Disorders Intellectual disability (ID) refers to a heterogeneous group of disor ders that have in common deficits of adaptive and intellectual function and an age of onset |
687 | before maturity is reached. In Europe, the term learning disability is often used to describe ID. DEFINITION Contemporary conceptualizations of ID emphasize adaptive functioning and social interaction rather than test scores in isolation. The definition of ID requires significant impairment in general intellectual function (reasoning, memory, learning, problem solving) and adaptive behavior, with severity defined by limitations in adaptive functioning or levels of needed support. This focus encourages the development of individual treatment plans characterizing the supports needed to enhance func tioning. Consistent across these definitions is onset of symptoms before adulthood (18 22 years of age). Children with ID have a nonprogres sive disorder; loss of developmental milestones or progressive symptoms with a downward developmental trajectory suggest another disorder. Significant impairment in adaptive behavior reflects the degree to which cognitive dysfunction directly contributes to impairments in daily func tioning at home, at school and work, and in the community. Adaptive behavior refers to the skills required for people to function in their every day lives, and individuals with deficits require more support than same age peers for optimal participation. The American Association on Intellectual and Developmental Disabilities (AAIDD) and Diagnostic and Statisti cal Manual of Mental Disorders, Fifth Edition (DSM 5) classifications of adaptive behavior address three broad sets of skills: conceptual, social, and practical. Conceptual skills include language, reading, writing, time, number concepts, and self direction. Social skills include interpersonal skills, personal and social responsibility, self esteem, gullibility, naivet, and ability to follow rules, obey laws, and avoid victimization. Representa tive practical skills involve performance of activities of daily living (dress ing, feeding, toiletingbathing, mobility), instrumental activities of daily living (e.g., housework, managing money, taking medication, shopping, preparing meals, using phone and mail systems), occupational skills, and maintenance of a safe environment. For a deficit in adaptive behavior to be present, a significant delay in at least one of the three skill areas must be present. The rationale for requiring only one area is the empirically derived finding that people with ID can have varying patterns of ability and may not have deficits in all three areas. The requirement for adaptive behavior deficits is the most controver sial aspect of the diagnostic formulation. The controversy centers on two broad areas: whether impairments in adaptive behavior are necessary for the construct of ID and what to measure. The adaptive behavior criterion may be irrelevant for many children; adaptive behavior is impaired in virtually all children who have IQ scores 50. The major utility of the adaptive behavior criterion is to confirm ID in children with IQ scores in the 60 75 range, especially considering the historical overdiagnosis of ID among individuals of color with typical adaptive functioning and biased IQ testing results. It should be noted that deficits in adaptive behavior are often found in disorders such as autism spectrum disor der (ASD; see Chapter 58) and attention deficithyperactivity disorder (ADHD; see Chapter 50) in the presence of typical intellectual function, often mediated by significant difficulties with executive functioning, |
688 | self directedness, or maladaptive behaviors. In contrast, deficits of adaptive functioning in ID are primarily attributable to the individuals overall cognitive limitations. The issues of measurement are important as well. The independence of the three domains of adaptive behavior has not been validated. The relationship between adaptive behavior and IQ performance is insufficiently explored. Many adults with IQ scores in the 60 75 range do not have significant impairments in practical skills. Adaptive behav ior deficits also must be distinguished from maladaptive behavior (e.g., aggression, self injury, inappropriate sexual behavior). Significant impairment in general intellectual function refers to perfor mance on an individually administered test of intelligence that is approxi mately 2 standard deviations (SDs) below the mean. Generally, these tests provide a standard score that has a mean of 100 and SD of 15 points, so that IQ scores 70 would meet these criteria. If the standard error of mea surement is considered, the upper limits of significantly impaired intellec tual function may extend to an IQ of 75. Using a score of 75 to delineate ID might double the number of children with this diagnosis, but the require ment for impairment of adaptive skills limits the false positives. Children with ID often show a variable pattern of strengths and weaknesses. Not all their subtest scores on IQ tests fall into the significantly impaired range. Onset before age 22 years or adulthood distinguishes dysfunctions that originate during the developmental period from those that begin in adulthood. The diagnosis of ID may be made after 22 years of age, but the cognitive and adaptive dysfunction must have been manifested before age 22 years. Age of onset may be relevant to qualification for certain benefits programs that require a diagnosis of ID. Intellectual disability as nonprogressive. Individuals with ID will acquire new developmental milestones over time, although at a slower rate than unaffected children. A slowing trajectory is not uncom mon as individuals with ID get older. This should be distinguished from regression of milestones, which involves true loss of previously acquired skills and demands additional and often more extensive etiologic workup. Sometimes regression is seen in the context of the childs larger medical picture, such as loss of mobility with increasing spasticity and contractures in children with comorbid cerebral palsy (CP) or loss of language skills in the setting of new seizures. Alterna tively, regression could suggest a progressive encephalopathy caused by an inborn error of metabolism or a neurodegenerative disorder (see Chapters 104 and 639). Prompt identification is essential, as some of these conditions are treatable or modifiable and some necessitate con versations about future reproductive risk. Global developmental delay (GDD) is a term often used to describe young children with delays across multiple domains of development that have not yet resulted in a diagnosis of ID. In DSM 5, GDD is a diagnosis given to children 5 years of age who display significant delay (2 SDs) in acquiring early childhood developmental milestones in two or more domains of |
689 | development. These domains include recep tive and expressive language; gross and fine motor function; cognition, social and personal development; and activities of daily living. Typi cally, it is assumed that delay in two domains will be associated with delay across all domains evaluated, including cognitive and intellec tual abilities. Longitudinal studies following outcomes of children with GDD are sparse but suggest that that upwards of 80 of children with early global delays continue to experience development challenges through the school age years. However, not all children who meet cri teria for a GDD diagnosis at a young age go on to meet criteria for ID later in childhood. Reasons for the lack of concordance between GDD and later diagnosis of ID include lower reliability and predictive validity of developmental testing in children under 5 6 years of age; a positive change in developmental trajectory with maturation or pos sibly with intervention; reclassification to a different disability category (autism, ADHD, developmental coordination disorder); or imprecise use of the GDD diagnosis initially. Conversely, in patients with more severe early delays, the GDD term is often used beyond the point when the child could be reclassified as having ID, such as when a child has persistently and markedly low developmental quotients on multiple assessments and despite intervention during the first few years of life. It is important to distinguish the medical diagnosis of GDD from the federal disability classification of developmental delay that may be used by education agencies under the Individuals with Disabilities Education Act (IDEA). This classification requires that a child have delays in only one domain of development with subsequent need for special education. Each state determines its own precise definition and terms of eligibility under the broader definition outlined by IDEA, and many states use the label for children up to 9 years of age. Chapter 56 Developmental Delay and Intellectual Disability Meghan E. ONeill and Bruce K. Shapiro Downloaded for mohamed ahmed (dr.mms2020gmail.com) at University of Southern California from ClinicalKey.com by Elsevier on April 20, 2024. For personal use only. No other uses without permission. Copyright 2024. Elsevier Inc. All rights reserved. Chapter 56 u Developmental Delay and Intellectual Disability 347 ETIOLOGY Numerous identified causes of ID may occur prenatally, during deliv ery, postnatally, or later in childhood. These include infection, trauma, prematurity, hypoxia ischemia, toxic exposures, metabolic dysfunction, endocrine abnormalities, malnutrition, and genetic abnormalities. Most people with ID will not have a readily identifiable underlying diagno sis based on prenatal or perinatal history or dysmorphology, meriting further medical and genetic evaluation. Practice guidelines recommend that an etiologic workup be pursued in all children with ID or GDD when there is not a readily apparent explanation for the childs presenta tion (Tables 56.1 and 56.2). It is anticipated that these diagnostic guide lines change because genome sequencing studies have identified severe monogenic etiologies in previously difficult to diagnose developmental disorders despite extensive previous recommended evaluations. Among children with milder GDD, yield of etiologic workup will likely be lower |
690 | in comparison to children with more significant delays or dis ability. With increases in etiologic testing among all children with ID and advancement of technologic capabilities of testing, the number of identified biologic and genetic causes of ID is continuing to increase rap idly. There are slightly over 100 disorders (all of which are metabolic in nature) for which treatment may ameliorate the core symptoms of ID (see https:www.treatable id.org), but these conditions account for a relatively small percentage of children with ID (Table 56.3). However, there are sev eral reasons beyond disease modification that should prompt providers to seek etiologic answers in patients with ID. These include insight into possible associated medical or behavioral comorbidities; information on prognosis and life expectancy; estimation of recurrence risk for fam ily planning counseling, potential validation, and closure for the family; increased access to services or specific supports; and better understanding of underlying pathology with the hope for new treatment options. When surveyed, families of children with ID with no identified underlying etiol ogy almost universally report that they would want to know of an etiologic diagnosis if given the choice. Expanded testing will contribute to the grow ing pathophysiologic understanding of how ID occurs mechanistically and serves as an opportunity for future targeted treatment opportunities and clinical trial development. Mild and more severe forms of ID have different but overlapping risk factors and etiologies. Nongenetic risk factors that are often associated with mild ID include low socioeconomic status, low maternal educa tion levels, residence in a developing country, malnutrition, and poor access to healthcare. The most common biologic causes of, or risk fac tors for, mild ID include intrauterine growth restriction; prematurity; perinatal insults; intrauterine exposure to drugs of abuse (including alcohol); postnatal exposure to neurotoxic substances (including lead); some sex chromosomal abnormalities; and some genetic syndromes with multiple, major, or minor congenital anomalies (e.g., 22q11 dele tion syndrome, sex chromosomal abnormalities, Noonan syndrome). Familial clustering is common. Table 56. 1 Genetic Testing Guidelines for IDGDD andor ASD ORGANIZATION RECOMMENDATION(S) FOR GENETIC TESTING Autism and Intellectual Disability Committee of the American Academy of Child and Adolescent Psychiatry (AACAP) CMA in all individuals with IDGDD andor ASD FMR1 repeat analysis in males and females with ID or a family history of ID Depending on history and physical examination, consider: PTEN testing if head circumference (HCM) is more than 2.5 SD above the mean for age in a child with IDGDD andor ASD MECP2 testing for Rett syndrome in females with severe ID Karyotype if a chromosomal syndrome is suspected If other investigations do not provide an etiology and there are unresolved clinical findings, consider ES and mitochondrial DNA testing American Academy of Pediatrics (AAP) If a comprehensive history and exam are indicative of a specific syndrome or disorder, proceed with specific testing in patients with ASD andor IDGDD In all individuals with ASD and IDGDD without specific findings, consider CMA and FMR1 CGG repeat analysis In females with ASD andor IDGDD without specific |
691 | findings, consider MECP2 testing In males with IDGDD without specific findings, consider an X linked ID panel (XLID) If an etiology is not identified, consider a referral to genetics for additional workup, including possible ES International Standard Cytogenomic Array (ISCA) Consortium CMA is the first tier genetic test in patients with GDDID, ASD, andor multiple congenital anomalies American College of Medical Genetics (ACMG) After a detailed family history and physical examination, proceed with specific testing for patients with ASD if a syndrome is suspected or if features are suggestive of a mitochondrial or metabolic condition If family history and physical exam are not suggestive of a specific diagnosis, metabolic, or mitochondrial condition, proceed with CMA for all patients with ASD and FMR1 repeat analysis for all males with ASD If CMA (in males and females) and FMR1 repeat analysis (in males) are not diagnostic, consider: MECP2 sequencing in all females with ASD MECP2 duplication testing in males with ASD if phenotype is suggestive PTEN testing in patients with ASD if HCM is more than 2.5 SD above the mean for age FMR1 repeat analysis in females with ASD and additional features suggestive of fragile X (e.g., family history and phenotype) American College of Medical Genetics (ACMG) CMA is the first tier genetic test in patients with multiple congenital anomalies that are not indicative of a specific genetic syndrome and those with nonsyndromic IDGDD and ASD Multidisciplinary Expert Consensus Panel ES in all individuals with ID andor ASD If ES is nondiagnostic and does not include copy number variant analysis, proceed with CMA If ES (and CMA if needed) is nondiagnostic, reanalysis of data from testing should be undertaken periodically American Academy of Neurology (AAN) and Child Neurology Society (CNS) High resolution karyotype and FMR1 repeat analysis for patients with ASD that also have ID, family history of fragile X andor ID, or dysmorphic features After obtaining a detailed medical, developmental, and family history for patients with IDGDD, if a specific etiology is considered, perform appropriate testing such as single gene testing, metabolic testing, or XLID panel If a specific etiology is not suspected, perform CMA (or, if not possible, karyotype and subtelomeric FISH) for all individuals with IDGDD, MECP2 testing for females with moderate to severe IDGDD, and FMR1 repeat analysis in all individuals with mild IDGDD If these and other etiologic workups are negative, consider a referral to genetics From Savatt JM, Myers SM. Genetic testing in neurodevelopmental disorders. Front Pediatr. 2021;9:526779, Table 3. Downloaded for mohamed ahmed (dr.mms2020gmail.com) at University of Southern California from ClinicalKey.com by Elsevier on April 20, 2024. For personal use only. No other uses without permission. Copyright 2024. Elsevier Inc. All rights reserved. 348 Part IV u Learning and Developmental DisordersTable 56.2 Genetic Tests Commonly Used in Evaluation of Neurodevelopmental Disorders TEST RESULTSVARIANTS DETECTED DETECTION LIMITATIONS Chromosomal microarray (CMA) Copy number variants (CNV) (generally 250 kb but could be smaller if region is specifically targeted) Regions of homozygosity Repetitive DNA sequences, including trinucleotide repeat |
692 | expansions (e.g., FMR1 repeat expansion) Balanced chromosomal rearrangements Sequence level variants in the exomegenome Mitochondrial variants Epigenetics alterations (e.g., methylation abnormalities, uniparental heterodisomy) Low level mosaicism Exome sequencing (ES) Sequence level variants in the coding region (exome) Copy number variants Repetitive DNA sequences, including trinucleotide repeat expansions (e.g., FMR1 repeat expansion) Balanced chromosomal rearrangements Smaller copy number variants, including deletionsduplications involving one to two exons Mitochondrial variants Epigenetics alterations (e.g., methylation abnormalities) Intronicnoncoding variants Variants in regions of the exome that are not well covered by sequencing FMR1 CGG repeat testing CGG repeat number in the FMR1 gene Sequence level variants in FMR1 or elsewhere in the exomegenome Copy number variants Balanced chromosomal rearrangements Exon level deletionsduplications Mitochondrial variants Epigenetics alterations (e.g., methylation abnormalities) Single nucleotide polymorphismbased chromosomal microarray (SNP CMA) Several laboratories are now calling CNVs as a routine part of ES, and this trend will continue to expand. From Savatt JM, Myers SM. Genetic testing in neurodevelopmental disorders. Front Pediatr. 2021;9:526779, Table 2. CONDITION TREATMENT Galactosemia Lactose free diet Fructosemia Fructose free diet Phenylketonuria Phenylalanine free diet Maternal phenylketonuria Phenylalanine free diet during pregnancy Maple syrup urine disease Diet restricted in branched chain amino acids dialysis or exchange transfusion Hypoglycemia from any cause Prevent hypoglycemia andor provide glucose Lead intoxication Separate child from source of lead; chelation therapy Hypothyroidism Thyroid replacement Recurrent otitis media Antibiotic prophylaxis, pressure equalizing tubes Malnutrition Adequate nutrition Increased intracranial pressure (e.g., hydrocephalus, neoplasm) Shunt ventricles or cystic structure Congenital HIV infection Prenatalpostnatal treatment with AZT (zidovudine) Congenital toxoplasmosis Prenatal treatment with spiramycin, pyrimethamine, and sulfonamide Dopa responsive dystonia Responds to levodopa; may be misdiagnosed as cerebral palsy Biotinidase deficiency Oral biotin Biotin thiamineresponsive basal ganglia disease Biotin, thiamine Wilson disease Copper chelation; liver transplant Cerebral folate disorder Folinic acid CONDITION TREATMENT Creatine disorders Creatine monohydrate Vitamin B12 deficiency Vitamin B12 Cerebral glucose transporter defect Ketogenic diet Metachromatic leukodystrophy BMT Niemann Pick disease BMT, liver transplantation, implanted amniotic epithelial cells Adrenoleukodystrophy BMT Glycogen storage disease type IV Liver transplantation Menkes disease Parenteral copper histidinate Lesch Nyhan syndrome Allopurinol BMT Krabbe disease BMT Mannosidosis ERT: velmanase alfa Aspartylglucosaminuria BMT Gaucher disease type III ERT: Ceredase; SRT: Cerdelga; PCT: Mucosolvan Hunter syndrome (MPS II) ERT: Elaprase Hurler syndrome (MPS I) ERT: Aldurazyme Sanfilippo syndrome A (MPS IIIa) SRT: Genistein Sanfilippo syndrome B (MPS IIIb) SRT: Genistein Sanfilippo syndrome C (MPS IIIc) SRT: Genistein Sanfilippo syndrome D (MPS IIId) SRT: Genistein Sly syndrome (MPS VII) ERT: Mepsevii Neuronal ceroid lipofuscinosis type II ERT: Brineura Table 56.3 Conditions in Which Early Treatment May Significantly Improve the Course of the Disease BMT, Bone marrow transplant; ERT, enzyme replacement therapy; MPS, mucopolysaccharidosis; PCT, pharmacologic chaperone therapy; SRT, substrate reduction therapy. From Muriello M. Neurocognitive and developmental regression. In: Kliegman RM, Toth H, Bordini BJ, Basel D (eds). Nelson Pediatric Symptom Based Diagnosis, 2nd ed. Philadelphia: Elsevier; 2023: Table 28.10, p. 481. Downloaded for mohamed ahmed (dr.mms2020gmail.com) at University of Southern California from ClinicalKey.com by Elsevier on April 20, 2024. For |
693 | personal use only. No other uses without permission. Copyright 2024. Elsevier Inc. All rights reserved. Chapter 56 u Developmental Delay and Intellectual Disability 349 In children with more severe ID, a biologic cause (usually with pre natal onset) can be identified in about three fourths of all cases. Causes include chromosomal (e.g., Down, Wolf Hirschhorn, and deletion 1p36 syndromes) and other genetic and epigenetic disorders (e.g., fragile X, Rett, and Angelman syndromes), abnormalities of brain development (e.g., lissencephaly), and inborn errors of metabolism and mitochon drial disorders (e.g., mucopolysaccharidoses, mitochondrial respiratory chain complex disorders) (Table 56.4). Nonsyndromic severe ID may be a result of inherited or de novo gene mutations, as well as microdele tions or microduplications. Currently, 1,300 single genes have been associated with ID. Inherited genetic abnormalities may be mendelian (autosomal dominant de novo, autosomal recessive, X linked) or non mendelian (imprinting, methylation, mitochondrial defects; see Chapter 97). De novo mutations may also cause other phenotypic features such as seizures or autism; the presence of these features suggests more pleo tropic manifestations of genetic mutations. Consistent with the finding that disorders altering early embryogenesis are the most common and severe, the earlier the problem occurs in development, the more severe its consequences tend to be. EPIDEMIOLOGY ID is one of the most common causes of disability in children glob ally. The prevalence of ID depends on the definition, method of ascertainment, and population studied, both in terms of geography and age. According to the statistics of a normal distribution, 2.5 of the population should have ID (based on IQ alone), and 75 of these individuals should fall into the mild to moderate range. Variability in rates across populations likely results from the heavy influence of external environmental factors and definitional differ ences on the prevalence of mild ID. The prevalence of severe ID is relatively stable. Globally, the prevalence of ID has been estimated to be approximately 16.4 per 1,000 persons in low income coun tries, approximately 15.91,000 for middle income countries, and approximately 9.21,000 in high income countries. A meta analysis of worldwide studies from 1980 to 2009 yielded an overall preva lence of 10.41,000. ID occurs more in boys than in girls, at 2:1 in mild ID and 1.5:1 in severe ID. In part this may be a consequence of the many X linked disorders associated with ID, the most common being fragile X syndrome (see Chapter 59). In the United States the prevalence of ID in school age children ranges from 1.1 to 1.8. There are several reasons why fewer children are iden tified as having mild ID than predicted from statistics. Professionals might miss or defer the diagnosis and give the benefit of the doubt to the child and await repeated confirmatory testing over time because it is more chal lenging to diagnose mild ID than the more severe forms. Other reasons that contribute to the discrepancy between predicted and observed preva lence are use of instruments that under identify young children with mild |
694 | ID, children diagnosed as having ASD without their ID being recognized or addressed, misdiagnosis as a language disorder or specific learning dis ability, and a disinclination to make the diagnosis in minoritized students because of concern about biased assessments that historically led to over diagnosis. In some cases, behavioral disorders may divert the focus from the cognitive dysfunction. Beyond potential under diagnosis of mild ID, the number of chil dren with mild ID may be decreasing because of public health and edu cation measures to prevent prematurity and provide early intervention and Head Start programs. However, although the number of school children who receive services under a federal disability classification of ID has decreased since 1999, when developmental delay is included in analysis of the data, the numbers have not changed appreciably. The prevalence of severe ID has not changed significantly since the 1940s, accounting for 0.30.5 of the population. Many of the causes of severe ID involve genetic or congenital brain malformations that can neither be anticipated nor treated at present, though trends toward more expanded prenatal screening (and subsequent termination) may alter this balance, as seen with the decreasing incidence of Down syndrome. Additionally, expanded newborn screening with early treatment has virtually eliminated ID caused by phenylketonuria and congenital hypothyroidism. However, continued high prevalence of fetal exposure to alcohol and illicit drugs, improved survival of very low birthweight premature infants, and increas ing overall maternal age during pregnancy (contributing to increased rates of genetic abnormalities) have counterbalanced this effect. Table 56.4 Identification of Causes in Children with Significant Intellectual Disability CAUSE EXAMPLES OF TOTAL Chromosomal disorder Trisomies 21, 18, 13 Deletions 1p36, 4p, 5p, 11p, 12q, 17p, others Microdeletions Klinefelter, 47,XXX, and Turner syndromes 20 Genetic syndrome Fragile X, Prader Willi, Angelman, and Rett syndromes 20 Nonsyndromic autosomal mutations Variations in copy number; de novo mutations in SYNGAP1, GRIK2, TUSC3, oligosaccharyl transferase, and others 10 Developmental brain abnormality Hydrocephalus meningomyelocele; schizencephaly, lissencephaly 8 Inborn errors of metabolism or neurodegenerative disorder Phenylketonuria, ceroid lipofuscinosis, Tay Sachs disease, other storage diseases 7 Congenital infections HIV, toxoplasmosis, rubella, cytomegalovirus, syphilis, herpes simplex, Zika virus 3 Familial intellectual disability Environment, syndromic, or genetic 5 Perinatal causes Hypoxic ischemic encephalopathy, meningitis, intraventricular hemorrhage, periventricular leukomalacia, fetal alcohol syndrome 4 Postnatal causes Trauma (abuse), meningitis, nutritional deficiencies, hypothyroidism 4 Unknown 20 Adapted from Stromme P, Hayberg G. Aetiology in severe and mild mental retardation: A population based study of Norwegian children. Dev Med Child Neurol. 2000;42:7686. Downloaded for mohamed ahmed (dr.mms2020gmail.com) at University of Southern California from ClinicalKey.com by Elsevier on April 20, 2024. For personal use only. No other uses without permission. Copyright 2024. Elsevier Inc. All rights reserved. 350 Part IV u Learning and Developmental Disorders PATHOLOGY AND PATHOGENESIS The limitations in our knowledge of the neuropathology of ID are dem onstrated by the finding that 1020 of brains of persons with severe ID appear normal on standard neuropathologic study. Many of the brains that appear abnormal show only mild, nonspecific changes |
695 | that correlate poorly with the degree of ID, including microcephaly, gray matter heterotopias in the subcortical white matter, unusually regular columnar arrangement of the cortex, and neurons that are more tightly packed than usual. Only a minority of the brains show more specific changes in dendritic and synaptic organization, with dysgenesis of dendritic spines or cortical pyramidal neurons or impaired growth of dendritic trees. CNS maturation is defined by genetic, molecular, auto crine, paracrine, and endocrine influences. Receptors, signaling mol ecules, and genes are critical to brain development. As the ability to identify genetic aberrations that correspond to particular phenotypes expands through the use of next generation sequencing, more will be elucidated about the pathogenesis of ID at a genetic and molecular level. This expanding pathophysiologic knowl edge base may serve as a framework with which to develop targeted therapies to bypass or correct newly identified defects. For example, use of histone deacetylase (HDAC) inhibitors has been shown to rescue structural and functional neural deficits in mouse models of Kabuki syndrome, a disorder of histone methylation that leads to variable levels of ID and characteristic facial features. Similarly, there is growing inter est in the role of mammalian target of rapamycin (mTOR) inhibitor use preventing seizures, neurodevelopmental disabilities, retinal tumors, cutaneous tumors, and other manifestations seen in tuberous sclerosis (see Chapter 636.2). CLINICAL MANIFESTATIONS Early diagnosis of ID facilitates earlier intervention, identification of abilities, realistic goal setting, monitoring for potential comorbid con ditions, easing of parental anxiety, and greater inclusion of the child in the community. Children with ID may first come to the pediatri cians attention because of dysmorphisms (often in infancy), associated developmental disabilities, or failure to meet age appropriate develop mental milestones (Tables 56.5 and 56.6). Physical exam findings are nonspecific, but constellations of dysmorphisms may be consistent with certain genetic syndromes. With the advent of more sophisti cated genetic testing, the limitations of dysmorphology have become more apparent given the phenotypic variability seen with many genetic causes of ID. Most children with ID lag behind peers in their acquisition of devel opmental skills. In early infancy, failure to meet age appropriate expec tations can include a lack of visual or auditory responsiveness, unusual muscle tone (hypotonia or hypertonia), or posture and feeding difficul ties. Between 6 and 18 months of age, gross motor delay (lack of sit ting, crawling, walking) is the most common concern. Language delay and behavior problems are common concerns after 18 months of age (see Table 56.6). For some children with mild ID, the diagnosis remains Table 56.5 Physical Examination of a Child with Suspected Developmental Disabilities ITEM POSSIBLE SIGNIFICANCE General appearance May indicate significant delay in development or obvious syndrome STATURE Short stature Malnutrition, many genetic syndromes are associated with short stature (e.g., Turner, Noonan) Obesity Prader Willi syndrome Large stature Sotos syndrome, Sotos like syndromes HEAD Shape Flat occiput: Down syndrome, Zellweger syndrome; prominent occiput: trisomy 18 Delayed closure of sutures: hypothyroidism, hydrocephalus Craniosynostosis: Crouzon syndrome, Pfeiffer syndrome Delayed fontanel |
696 | closure: hypothyroidism, Down syndrome, hydrocephalus, skeletal dysplasia Macrocephaly Alexander syndrome, Canavan disease, Sotos syndrome, gangliosidosis, hydrocephalus, mucopolysaccharidosis, subdural effusion Microcephaly Virtually any condition that can restrict brain growth (e.g., malnutrition, Angelman syndrome, Cornelia de Lange syndrome, fetal alcohol effects) FACE Specific measurements may provide clues to inherited, metabolic, or other diseases Midface hypoplasia: fetal alcohol syndrome, Down syndrome Triangular facies: Russell Silver syndrome, Turner syndrome Coarse facies: mucopolysaccharidoses, Sotos syndrome Prominent nose and chin: fragile X syndrome Flat facies: Apert syndrome, Stickler syndrome Round facies: Prader Willi syndrome Hypotelorism or hypertelorism; slanted or short palpebral fissure; unusual nose, maxilla, and mandible Nose Anteverted naressynophrys: Cornelia de Lange syndrome Broad nasal bridge: fetal drug effects, fragile X syndrome Low nasal bridge: achondroplasia, Down syndrome Prominent nose: Rubenstein Taybi, Coffin Lowry syndrome, Smith Lemli Opitz syndrome Mouth Long philtrumthin vermilion border: fetal alcohol effects Cleft lip and palate: isolated or part of a syndrome Micrognathia: Pierre Robin sequence, trisomies, Stickler syndrome Macroglossia: hypothyroidism, Beckwith Wiedemann syndrome Teeth Anodontia: ectodermal dysplasia Notched incisors: congenital syphilis Late dental eruption: Hunter syndrome, hypothyroidism Talon cusps: Rubinstein Taybi syndrome Wide spaced teeth: Cornelia de Lange syndrome, Angelman syndrome Downloaded for mohamed ahmed (dr.mms2020gmail.com) at University of Southern California from ClinicalKey.com by Elsevier on April 20, 2024. For personal use only. No other uses without permission. Copyright 2024. Elsevier Inc. All rights reserved. Chapter 56 u Developmental Delay and Intellectual Disability 351 ITEM POSSIBLE SIGNIFICANCE EYES Set Hypertelorism: fetal hydantoin syndrome, Waardenburg syndrome Hypotelorism: holoprosencephaly sequence, maternal phenylketonuria effect Prominent Crouzon, Seckel, Apert syndrome; Beckwith Wiedemann syndrome and fragile X syndromes Irissclera Brushfield spots: Down syndrome Lisch nodules: neurofibromatosis Blue sclera: osteogenesis imperfecta, Turner syndrome, hereditary connective tissue disorders Cataract Galactosemia, Lowe syndrome, prenatal rubella, hypothyroidism Cherry red spot in macula Gangliosidosis (GM1), metachromatic leukodystrophy, mucolipidosis, Tay Sachs disease, Niemann Pick disease, Farber lipogranulomatosis, sialidosis type III Chorioretinitis Congenital infection with cytomegalovirus, toxoplasmosis, Zika virus, or rubella Corneal cloudiness Mucopolysaccharidosis types I and II, Lowe syndrome, congenital syphilis EARS Low set or malformed pinnae Trisomies such as Down syndrome, Rubinstein Taybi syndrome, CHARGE syndrome, cerebrooculofacioskeletal syndrome, Treacher Collins syndrome, fetal phenytoin effects Hearing Loss of acuity in mucopolysaccharidosis; hyperacusis in many encephalopathies HEART Structural anomaly or hypertrophy CHARGE syndrome, velocardiofacial syndrome, glycogenosis type II, fetal alcohol effects, mucopolysaccharidosis type I; chromosomal anomalies such as Down syndrome; maternal PKU; chronic cyanosis may impair cognitive development LIVER Hepatomegaly Fructose intolerance, galactosemia, glycogenosis types I IV, mucopolysaccharidosis types I and II, Niemann Pick disease, Tay Sachs disease, Zellweger syndrome, Gaucher disease, ceroid lipofuscinosis, gangliosidosis GENITALIA Macroorchidism Fragile X syndrome Hypogenitalism Prader Willi, Klinefelter, and CHARGE syndromes EXTREMITIES Hands, feet; dermatoglyphics, creases May indicate a specific entity such as Rubinstein Taybi syndrome or may be associated with chromosomal anomaly Short limbs: achondroplasia, rhizomelic chondrodysplasia Small hands: Prader Willi syndrome Clinodactyly: trisomies, including Down syndrome Polydactyly: trisomy 13, ciliopathies Broad thumb: Rubinstein Taybi syndrome Syndactyly: de Lange syndrome Smith Lemli Opitz Transverse palmar crease: Down syndrome Joint laxity: Down syndrome, fragile X |
697 | syndrome, Ehlers Danlos syndrome Phocomelia: Cornelia de Lange syndrome Joint contractures Signs of muscle imbalance around the joints (e.g., with meningomyelocele, cerebral palsy, arthrogryposis, muscular dystrophy; also occurs with cartilaginous problems such as mucopolysaccharidosis) Williams syndrome SKIN Caf au lait spots Neurofibromatosis, Legius syndrome, tuberous sclerosis, chromosomal aneuploidy, ataxia telangiectasia, multiple endocrine neoplasia type 2b Fanconi anemia, Gaucher disease Syndromes: basal cell nevus; McCune Albright, Silver Russell, Bloom, Chediak Higashi, Hunter, Bannayan Riley Ruvalcaba, Maffucci syndromes Seborrheic or eczematoid rash PKU, histiocytosis Hemangiomas and telangiectasia Sturge Weber syndrome, Bloom syndrome, ataxia telangiectasia; Klippel Trenaunay Weber Hypopigmented macules, streaks, adenoma sebaceum Tuberous sclerosis, hypomelanosis of Ito Hair Hirsutism: De Lange syndrome, mucopolysaccharidosis, fetal phenytoin effects, cerebrooculofacioskeletal syndrome, trisomy 18, Hurler syndrome Low hairline: Klippel Feil sequence, Turner syndrome Sparse hair: Menkes disease, argininosuccinic acidemia, biotin deficiency Abnormal hair whorlsposterior whorl: chromosomal aneuploidy (e.g., Down syndrome) Hypertrichosis cubiti (elbows): Wiedemann Steiner, MacDermot Patton Williams syndromes Abnormal eyebrow patterning: Cornelia de Lange syndrome Table 56.5 Physical Examination of a Child with Suspected Developmental Disabilitiescontd Continued Downloaded for mohamed ahmed (dr.mms2020gmail.com) at University of Southern California from ClinicalKey.com by Elsevier on April 20, 2024. For personal use only. No other uses without permission. Copyright 2024. Elsevier Inc. All rights reserved. 352 Part IV u Learning and Developmental Disorders uncertain during the early years and becomes clearer as the demands of the school setting increase. With increasing expectations for independence at home and socially, limitations among those with mild ID become more salient. Older school age children and adolescents with mild ID are typically up to date on current trends and are conversant as to who, what, and where. It is not until the why and how questions are asked that their limitations become apparent. If allowed to interact at a superficial level, their mild ID might not be appreciated, even by professionals such as healthcare pro viders. Because of the stigma associated with ID, adolescents may refer to themselves as learning disabled, dyslexic, language disordered, or slow learners. Some people with ID emulate their social milieu to be accepted. Adolescents with mild ID are both at high risk of being bullied and of being taken advantage of from a social perspective. ETIOLOGIC EVALUATION ID is one of the most frequent reasons for referral to pediatric genetic providers, with separate but similar etiologic evaluation guidelines (see Table 56.1). ID is a diagnosis of great clinical heterogeneity, with only a subset of syndromic etiologies identifiable through classic dys morphology. If diagnosis is not made after conducting an appropriate history and physical examination, chromosomal microarray and test ing for fragile X syndrome are often the recommended first steps in the etiologic evaluation of ID. Other testing to consider in the etiologic evaluation include exome or whole genome sequencing, neuroimag ing, metabolic testing, and electroencephalography (Fig. 56.1). Decisions to pursue an etiologic diagnosis should be based on the medical and family history, physical examination, and the familys wishes. Table 56.7 summarizes clinical practice guidelines and the yields of |
698 | testing to assist in decisions about evaluating the child with GDD or ID. Yield of testing tends to increase with worsening severity of delays (see also Tables 56.1 and 56.2). Microarray analysis has replaced a karyotype as first tier testing, given that it discerns abnormalities that are far below the resolution of a karyotype. Microarray analysis will detect copy number varia tions but may result in identification of variants of unknown signifi cance or benign variants and therefore should be used in conjunction with a genetic consultation. Karyotyping has a role when concerns for trisomy, inversions, balanced insertions, and reciprocal translo cations are present. If microarray analysis is not diagnostic, whole exome sequencing (WES) increases the diagnostic yield in children with nonsyndromic severe ID, especially when associated conditions such as autism, epilepsy, or movement disorders are present. WES will identify nucleotide sequence variants within the coding region of genes which affect protein function, missing structural and noncod ing variants, and trinucleotide repeat disorders. Starting with WES may be more cost effective and may substantially reduce time to diag nosis with higher ultimate yields compared with the traditional diag nostic pathway. Whole genome sequencing, which identifies variants within both exons and introns, represents the most comprehensive sequencing option, providing roughly 3,000 times more data than a microarray. Multimodal genomewide analysis has identified mono genic etiologies in difficult to diagnose patients when previous testing did not reveal a diagnosis. Molecular genetic testing for fragile X syndrome is currently rec ommended, although a relatively low diagnostic yield has led some to suggest that this should not be considered a first line test for all chil dren with ID or GDD. Yields are highest in males with moderate ID, unusual physical features, andor a family history of ID or for females with more subtle cognitive deficits associated with severe shyness and a relevant family history, including premature ovarian failure or later onset tremor ataxia symptoms (see Chapter 59). For children with a strong history of X linked ID, specific testing of genes or the entire chromosome may be revealing. Testing for Rett syndrome (methyl CpGbinding protein 2 MECP2) should be considered in females with moderate to severe disability, though WES may supplant this. Table 56.6 Common Presentations of Intellectual Disability by Age AGE AREA OF CONCERN Newborn Dysmorphic syndromes, (multiple congenital anomalies), microcephaly Major organ system dysfunction (e.g., feeding, breathing) Early infancy (2 4 mo) Failure to interact with the environment Concerns about vision and hearing impairments Later infancy (6 18 mo) Gross motor delay Toddlers (2 3 yr) Language delays or difficulties Preschool (3 5 yr) Language difficulties or delays Behavior difficulties, including play Delays in fine motor skills: cutting, coloring, drawing School age (5 yr) Academic underachievement Behavior difficulties (e.g., attention, anxiety, mood, conduct) Table 56.5 Physical Examination of a Child with Suspected Developmental Disabilitiescontd ITEM POSSIBLE SIGNIFICANCE Nails Hypoplastic or dysplastic: fetal alcohol, trisomies, Coffin Siris syndrome NEUROLOGIC Asymmetry of strength and tone Focal lesion, hemiplegic cerebral palsy Hypotonia Prader Willi, |
699 | Down, and Angelman syndromes; gangliosidosis; early cerebral palsy; muscle disorders (dystrophy or myopathy) Hypertonia Neurodegenerative conditions involving white matter, cerebral palsy, trisomy 18 Ataxia Ataxia telangiectasia, metachromatic leukodystrophy, Angelman syndrome Spine Sacral dimplehairy patch: spina bifida OTHER Neck Webbed necklow posterior hairline: Turner syndrome, Noonan syndrome Chest Shield shaped chest: Turner syndrome Inverted nipples; congenital disorders of glycosylation CHARGE, Coloboma, heart defects, atresia choanae, retarded growth, genital anomalies, ear anomalies (deafness); CATCH 22, cardiac defects, abnormal face, thymic hypoplasia, cleft palate, hypocalcemia, defects on chromosome 22; PKU, phenylketonuria. Modified from Simms M. Intellectual and developmental disability. In: Kliegman RM, Lye PS, Bordini BJ, et al, (eds). Nelson Pediatric Symptom Based Diagnosis. Philadelphia: Elsevier; 2018: Table 24.11, p. 376. Downloaded for mohamed ahmed (dr.mms2020gmail.com) at University of Southern California from ClinicalKey.com by Elsevier on April 20, 2024. For personal use only. No other uses without permission. Copyright 2024. Elsevier Inc. All rights reserved. Chapter 56 u Developmental Delay and Intellectual Disability 353 A child with a progressive neurologic disorder, developmental regression, or acute behavioral changes needs metabolic investiga tion, as shown in Figure 56.1. Some advocate for metabolic testing to be done more frequently in children with ID because of the possibility of detecting a condition that could be treatable (Fig. 56.2, Tables 56.3 and 56.8), though with expanded newborn screening many of these conditions can be identified at birth. This is most relevant for children born in countries without widespread newborn screening initiatives, especially when there is a history of consanguinity. In the absence of a specific indication, an electroencephalogram (EEG) is typically of low diagnostic utility and should be reserved for evaluation of clinical events that may represent seizures or when significant language regres sion occurs, which may be concerning for Landau Kleffner syndrome. MRI of the brain may provide useful information in directing the care of a child with microcephaly or macrocephaly, change in head growth trajectory, asymmetric head shape, new or focal neurologic findings, or seizures. MRI can detect a significant number of subtle markers of cerebral dysgenesis in children with ID, but these markers do not usually suggest a specific etiologic diagnosis, and the risk of anesthe sia may outweigh the potential benefits in young children without any additional concerning signs or symptoms. Some children with subtle physical or neurologic findings can also have determinable biologic causes of their ID (see Tables 56.5 and 56.6). How intensively one investigates the cause of a childs ID is based on the following factors: u What is the degree of delay, and what is the age of the child? If milder or less pervasive delays are present, especially in a younger child, etiologic yield is likely to be lower. u Is the medical history, family history, or physical exam suggestive of a specific disorder, increasing the likelihood that a diagnosis will be made? Are the parents planning on having additional children, and does the patient have siblings? If so, one may be more likely to intensively seek disorders for |
700 | which prenatal diagnosis or a specific early treatment option is available. u Is there a potentially treatable disorder? u What are the parents wishes? Some parents have little interest in searching for the cause of the ID, whereas others become so focused on obtaining a diagnosis that they have difficulty following through on interventions until a cause has been found. The entire spectrum of responses must be respected, and supportive guidance should be provided. DIFFERENTIAL DIAGNOSIS One of the important roles of pediatricians is the early recogni tion and diagnosis of cognitive deficits. Developmental surveil lance should be multifaceted. Parents concerns and observations about their childs development should be listened to carefully. Medical, genetic, and environmental risk factors should be recog nized. Infants at high risk (prematurity, maternal substance abuse, perinatal insult) should be registered in newborn follow up pro grams in which they are evaluated periodically for developmen tal lags in the first 2 years of life; they should be referred to early intervention programs as appropriate. Developmental milestones should be recorded routinely during healthcare maintenance visits. The American Academy of Pediatricians (AAP) has formulated a schema for developmental surveillance and screening at 9, 18, 24, and 30 months of age, including general developmental and autism screens (see Chapter 28). Global Developmental Delay Intellectual Disability Family, personal history; physical exam, hearing and vision screening, and psychoeducational evaluation to determine accurate phenotype or signs of regression FeaturesDysmorphology Multiple Congenital Anomalies HighRisk Features Including Regression Unexplained GDDID Imaging to define anomalies Features in the history Regression or significant change behavior Possible or definite seizures Movement disorder: continuous or paroxysmal Muscle painfatigue New onset sensory impairment; significant decline in visual acuity or hearing Genetic Microarray Fragile X Biochemical and metabolic Blood tests TFT AA Homocysteine Acylcarnitine profile Lactate pyruvate Ammonia Uric acid Microarray Standard chromosome Prader Willi methylation test History of teratogens Glycosaminoglycans Oligosaccharides Examination findings Neurological signs: dystonia, ataxia, chorea, focal signs, cranial nerve signs, muscle weaknesssigns of a peripheral neuropathy, arthrogryposisjoint contractures, cerebral palsy picture without a clear cause Ocular signs: nystagmus, eye movement disorder, abnormal fundi, cataract, ptosis Sensorineural deafness Neurocutaneous lesions Organomegaly cardiomegaly Urine tests OA GAG Oligosaccharides CreatineGAA Purine and pyrimidines WES WGS WES WGS Other Autism screening MRIMRS especially with macrocephalymicrocephaly, regression EEG if seizures suspected Gene Testing Targeted screening based on clinical differential diagnosis This could include: Biochemical testing as indicated based on presence of white matter disease, basal ganglia involvement Testing for congenital disorders of glycosylation Plasma VLCFA, pipecolic acid, phytanic acid, RBC plasmalogens Serum 7dehydrocholesterol Ceruloplasmin, CSF glucose, lactate, pyruvate, glycine, folate, neurotransmitters Fragile X Rett and Rettlike syndromes Angelman and similar disorders Panel based testing: XLID panel if Xlinked inheritance Autismassociated genetic disorders PTEN related syndromes TSC and similar disorders Fig. 56.1 Algorithm for the evaluation of the child with unexplained global developmental delay (GDD) or intellectual disability (ID). AA, Amino acids; ASD, autistic spectrum disorder; CK, creatine kinase; CSF, cerebrospinal fluid; FBC, full blood count; GAA, guanidinoacetic acid; GAG, gly cosaminoglycans; |
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