Datasets:

---

Recag

/

Rp_CommonC_149

like 0

ERROR: type should be string, got "https://search.credoreference.com/content/topic/fragile_x_syndrome?locale=ar\nBush, S. S., & Mirra, K. M. L. (2011). Fragile x syndrome. In C. Noggle, The encyclopedia of neuropsychological disorders. New York, NY: Springer Publishing Company. Retrieved from https://search.credoreference.com/content/topic/fragile_x_syndrome\nBush, Shane S., and Kathryn M. Lombardi Mirra. \"Fragile X Syndrome.\" In The Encyclopedia of Neuropsychological Disorders, by Chad Noggle. Springer Publishing Company, 2011. https://search.credoreference.com/content/topic/fragile_x_syndrome\nBush, S.S. and Mirra, K.M.L. (2011). Fragile x syndrome. In C. Noggle, The encyclopedia of neuropsychological disorders. [Online]. New York: Springer Publishing Company. Available from: https://search.credoreference.com/content/topic/fragile_x_syndrome [Accessed 19 July 2019].\nBush, Shane S., and Kathryn M. Lombardi Mirra. \"Fragile X Syndrome.\" The Encyclopedia of Neuropsychological Disorders, Chad Noggle, Springer Publishing Company, 1st edition, 2011. Credo Reference, https://search.credoreference.com/content/topic/fragile_x_syndrome. Accessed 19 Jul. 2019.\n<iframe src=\"https://search.credoreference.com/content/topic/fragile_x_syndrome.embed?institutionId=6063\" width=\"100%\" height=\"500\" style=\"border: 0;\" allowfullscreen=\"allowfullscreen\"></iframe>\n[{\"style\":\"mla\",\"pubnonperiodical\":{\"title\":\"The Encyclopedia of Neuropsychological Disorders\",\"edition\":\"1\",\"city\":\"New York\",\"publisher\":\"Springer Publishing Company\",\"year\":2011,\"state\":\"NY\"},\"pubtype\":{\"main\":\"pubnonperiodical\",\"suffix\":\"pubdatabase\"},\"pubdatabase\":{\"year\":\"2013\",\"month\":\"February\",\"day\":\"3\",\"yearaccessed\":\"2019\",\"monthaccessed\":\"July\",\"dayaccessed\":\"19\",\"service\":\"Credo Reference\",\"db\":\"Credo Reference\",\"searchtext\":\"https://search.credoreference.com/content/topic/fragile_x_syndrome\"},\"contributors\":[{\"function\":\"section_author\",\"first\":\"Shane S.\",\"last\":\"Bush\"},{\"function\":\"section_author\",\"first\":\"Kathryn M. Lombardi\",\"last\":\"Mirra\"},{\"function\":\"author\",\"first\":\"Chad\",\"last\":\"Noggle\"}],\"source\":\"chapter\",\"chapter\":{\"title\":\"Fragile X Syndrome\",\"type\":\"essay\"}}]\nTY - CHAP T1 - Fragile X Syndrome T2 - The Encyclopedia of Neuropsychological Disorders PY - 2011/// PB - Springer Publishing Company CP - New York, NY, USA UR - https://search.credoreference.com/content/topic/fragile_x_syndrome L2 - https://search.credoreference.com/content/topic/fragile_x_syndrome ET - 1 DB - Credo Reference DP - Credo Reference Y2 - 2019/07/19 A1 - Bush, Shane S. A2 - Mirra, Kathryn M. Lombardi ED - Noggle, Chad SN - 9780826198549 ER -\nتحتوي صفحات الموضوع على نظرة عامة وتعريفات وسير ذاتية وموضوعات ذات صلة وصور بالإضافة إلى روابط إلى مقالات ذات صلة ومحتويات أخرى تقدمها مكتبة. Topic Page: Fragile X Syndrome\nDefinition: fragile X syndrome from The Penguin Dictionary of Psychology\nA genetic disorder caused by a mutation on the X chromosome. Symptoms include mental retardation, low muscle tone and elongated face often with large ears. Males have large testicles. Females often are subclinical, primarily because of the protection provided by the other, unaffected X chromosome. The syndrome often has a variety of behavioural characteristics including stereotyped actions, shyness and poor social development to the point where they may reach the diagnostic criteria for autism (see AUTISTIC SPECTRUM DISORDER).\nSummary Article: Fragile X Syndrome\nFrom The Encyclopedia of Neuropsychological Disorders\nFragile X syndrome is a genetic disorder, marked by cognitive, behavioral, emotional, and physical symptoms. It is the most common form of inherited mental retardation and affects 1 in 4,000 males and 1 in 8,000 females (Schwarte, 2008).\nNEUROPATHOLOGY/PATHOPHYSIOLOGY\nFragile X syndrome results from a repetition of the CGG trinucleotide sequence on the long arm of the X chromosome at location Xq27.3, first identified as a single gene disorder in 1991 (Hall, Burns, Lightbody, & Reiss, 2008). The CGG repetition inactivates the FMR1 gene, which leads to a decline in production of the fragile X mental retardation protein (FMRP) and prevents the expression of FMRP, which is necessary for normal neuronal development and healthy brain functioning (Huber, 2007; Schwarte, 2008). FMRP functions to regulate various proteins necessary for synaptic development, neuronal maturation, and plasticity (Gothelf et al., 2008; Hall et al., 2008). In fragile X syndrome, the dendritic spines of neurons appear to be longer than in normal controls and are not fully developed (Huber, 2007).\nAt the Xq27.3 locus, anywhere from 6–50 CGG repeats are considered normal. Individuals with 50–200 repeats are considered premutation carriers, as they may have partial inactivation of the FMR1 gene, and often show some clinical features of fragile X, although presentation and degree of deficit varies. fragile X syndrome is considered to be present in individuals with greater than 200 CGG repeats, which represents full mutation of the FMR1 gene.\nRecent work has examined the neuroanatomical sequelae associated with fragile X. Gothelf et al. (2008) compared neuroanatomical features in children with fragile X syndrome to age- and sex-matched controls. The investigators found significantly increased size of the caudate nucleus and decreased size of the posterior cerebeller vermis, amygdala, and superior temporal gyrus in those affected with fragile X syndrome.\nNEUROPSYCHOLOGICAL/CLINICAL PRESENTATION\nThe symptoms of fragile X syndrome include moderate to severe mental retardation, attention deficits, and developmental delays (Huber, 2007). The clinical presentation varies greatly among individuals, as fragile X is a disorder with incomplete penetrance, meaning even those with full mutation can remain asymptomatic (Snustad & Simmons, 2003). Although severity of symptoms is somewhat dependent upon the number of CGG repeats, clinical presentation can be vastly different in individuals with the same number of repeats and even in affected individuals within the same family.\nBecause the syndrome is linked to the X-chromosome, males and females are impacted differently. Males tend to be more severely affected given their possession of only a single X-chromosome, while females with the disorder often have one unaffected X-chromosome, enabling them to potentially maintain some FMRP production, leading to less severe symptoms. Certain neuroanatomical phenotypes may also be associated with more severe cognitive deficits (Gothelf et al., 2008).\nMales with fragile X syndrome often have moderate-to-severe mental retardation, with an average full-scale IQ of 40 (Schwarte, 2008). The cognitive profile of females with fragile X is much more variable and can range from normal to moderately impaired intelligence, but often females have low average intelligence. It is also believed that IQ tends to decline over time, but there is debate about whether such decline is due to loss of higher-order abilities, lack of development, or slower learning in affected individuals (Hall et al., 2008; Schwarte, 2008). Persons with the syndrome also typically have better verbal than visuospatial processing abilities. Executive dysfunction, specifically deficits in working memory, is often associated with the syndrome, as is difficulty performing arithmetic (Hall et al., 2008; Schwarte, 2008).\nThere is a high rate of comorbidity between fragile X syndrome and autism spectrum disorders. Autistic behaviors, such as stereotypies, gaze avoidance, self-injurious behaviors, and social and communication deficits are often apparent in individuals with fragile X syndrome (Schwarte, 2008). In males with fragile X syndrome, 60–90% show autistic features, while in females the rate varies from 25–80% (Gothelf et al., 2008). Further, 15–25% of individuals with fragile X syndrome are believed to meet the diagnostic criteria for autism (Schwarte, 2008). Persons with a comorbid autism diagnosis often have more severe deficits and are associated with poorer functional outcomes, including lower cognitive, language, social, and adaptive development (Fisch et al., 2007).\nBecause fragile X syndrome is a genetic disorder, family history plays an important role in suspecting a diagnosis and initiating further testing. Diagnosis of fragile X syndrome is often difficult because of the wide variability of symptoms (Snustad & Simmons, 2003). The diagnosis and severity of symptoms is based on the number of CGG repeats and can be tested with molecular genetic techniques. Clinically, the first symptoms of the syndrome are often developmental delays. On average, boys with fragile X syndrome sit unassisted at 10 months, and walk and talk at around 20 months (Schwarte, 2008). Because developmental delays are common in many childhood disorders, without additional suspect of fragile X in the family, children often go misdiagnosed or undiagnosed until much later. The average age of diagnosis of fragile X syndrome is 8 years (Schwarte, 2008).\nFragile X also has characteristic physical symptoms that have diagnostic value, including elongated face, large ears, prominent jaw, macrocephaly, macroorchidism, flat feet, high-arched palate, and joints that are hyperextensive (Schwarte, 2008). However, the physical symptoms of the disorder are not usually apparent at birth or early childhood and do not typically develop until much later, often not until adolescence.\nBecause the clinical features of fragile X syndrome are so individualized, treatment must be dependent upon the unique set of physical, cognitive, behavioral, and/or emotional problems. Multidisciplinary approaches are often necessary to address all problem areas. Primary medical doctors are important in the care of persons with fragile X syndrome in order to monitor the presence of common co-occurring medical conditions, such as problems associated with loose connective tissue and seizure disorders (Schwarte, 2008). The efficacy and side effects of medications need to be closely monitored in this population. Behavioral modification plans and medication management are an important component of treatment when behavioral symptoms are present. In children with speech and language difficulties, often a speech-language pathologist will be a part of the treatment team to lessen some of the communication barriers that may be present. Also, to increase likelihood of optimum development, individualized education plans are necessary to help identify strengths and weaknesses and facilitate learning to the individual's greatest capacity.\nFisch, G. S.; Carpenter, N.; Howard-Peebles, P.; Holden, J. J.; Tarleton, J.; Simensen, R., et al. (2007). Studies of age-correlated features of cognitive-behavioral development in children and adolescents with genetic disorders. American Journal of Medical Genetics Part A, 143A, 2478-2489.\nGothelf, D.; Furfaro, J. A.; Hoeft, F.; Eckert, M. A.; Hall, S. S.; O'Hara, R., et al. (2008). Neuroanatomy of fragile X syndrome is associated with aberrant behavior and the fragile X mental retardation protein (FMRP). Annals of Neurology, 63, 40-51.\nHall, S. S.; Burns, D. D.; Lightbody, A. A.; Reiss, A. L. (2008). Longitudinal changes in intellectual development in children with fragile X syndrome. Journal of Abnormal Child Psychology, 36, 927-939.\nHuber, K. (2007). Fragile X syndrome: Molecular mechanisms of cognitive dysfunction. American Journal of Psychiatry, 164, 556.\nSchwarte, A. R. (2008). Fragile X syndrome. School Psychology Quarterly, 23, 290-300.\nSnustad, D. P.; Simmons, M. J. (2003). Principles of genetics. John Wiley & Sons New York.\nShane S. Bush\nKathryn M. Lombardi Mirra\nCopyright © 2011 Springer Publishing Company\nFull text Article Fragile X Syndrome\nEncyclopedia of Cognitive Science\nFragile X syndrome (FXS) is a leading cause of mental retardation, associated with a broad spectrum of involvement, ranging from mild emotional...\nThe Encyclopedia of Neuropsychological Disorders\nDESCRIPTION Fragile X syndrome is a genetic disorder, marked by cognitive, behavioral, emotional, and physical symptoms. It is the most...\nThe Concise Corsini Encyclopedia of Psychology and Behavioral Science\nLittle known until a new technique facilitated identification in the 1980s, Fragile X, or fra(X), is the most common heritable cause of mental...\nHealth Reference Series: Genetic Disorders Sourcebook\nWhat Is Fragile X Syndrome? This chapter contains text excerpted from the following sources: Text beginning with the heading “What Is Fragile X S\nRehabilitation Medicine Quick Reference: Pediatrics\nDescription Fragile X syndrome (FXS) is the most common form of inherited intellectual disability (ID) and the most common genetic cause of...\nThe Penguin Dictionary of Psychology\nA MOVEMENT DISORDER characterized by nonfunctional repetitive behaviours such as rocking back and forth, hitting, biting or scratching parts...\nStedman's Medical Abbreviations, Acronyms & Symbols\nfragile X mental retardation protein ...\nFragile X Syndrome: Medical and Genetic Aspects\nThe SAGE Handbook of Developmental Disorders\nGeneral Overview Fragile X syndrome (FXS) is the most common identifiable inherited cause of intellectual disability and the most common known si\nEncyclopedia of Special Education: A Reference for the Education of Children, Adolescents, and Adults with Disabilities and Other Exceptional Individuals\nAlso known as Martin-Bell Syndrome, Fragile X Syndrome (FXS) is a chromosomal abnormality that is now thought to be the most common inherited cause\nFragile X syndrome (FXS) is the leading cause of inherited mental retardation. It is caused by a change (mutation) in the fragile X mental...\nتحتوي صفحات الموضوع على نظرة عامة وتعريفات وسير ذاتية وموضوعات ذات صلة وصور بالإضافة إلى روابط إلى مقالات ذات صلة ومحتويات أخرى تقدمها مكتبة. Topic Chromosome abnormalities\nChromosomal (cytogenetic) abnormalities are the most frequent cause of congenital (present at birth) malformations, affecting some 1 in 200 newborns (\nتحتوي صفحات الموضوع على نظرة عامة وتعريفات وسير ذاتية وموضوعات ذات صلة وصور بالإضافة إلى روابط إلى مقالات ذات صلة ومحتويات أخرى تقدمها مكتبة. Topic X chromosome\nLarger of the two sex chromosomes in humans and other placental mammals, the smaller being the Y chromosome . In females both the sex chromosomes are\nتحتوي صفحات الموضوع على نظرة عامة وتعريفات وسير ذاتية وموضوعات ذات صلة وصور بالإضافة إلى روابط إلى مقالات ذات صلة ومحتويات أخرى تقدمها مكتبة. Topic Heredity\ntransmission from generation to generation through the process of reproduction in plants and animals of factors which cause the offspring to resemble\nتحتوي صفحات الموضوع على نظرة عامة وتعريفات وسير ذاتية وموضوعات ذات صلة وصور بالإضافة إلى روابط إلى مقالات ذات صلة ومحتويات أخرى تقدمها مكتبة. Topic Chromosome\nStructures in a cell nucleus that carry the many thousands of genes , in sequence, that determine the characteristics of an organism. There are 46\nتحتوي صفحات الموضوع على نظرة عامة وتعريفات وسير ذاتية وموضوعات ذات صلة وصور بالإضافة إلى روابط إلى مقالات ذات صلة ومحتويات أخرى تقدمها مكتبة. Topic DNA\nOften referred to as the molecule of life, DNA (deoxyribonucleic acid) is found in almost all living things. It acts as a type of chemical code that\nتحتوي صفحات الموضوع على نظرة عامة وتعريفات وسير ذاتية وموضوعات ذات صلة وصور بالإضافة إلى روابط إلى مقالات ذات صلة ومحتويات أخرى تقدمها مكتبة. Topic Genetics\nGenetics is the branch of biology that studies heredity. The passing of biological information from parents to offspring occurs through the\nتحتوي صفحات الموضوع على نظرة عامة وتعريفات وسير ذاتية وموضوعات ذات صلة وصور بالإضافة إلى روابط إلى مقالات ذات صلة ومحتويات أخرى تقدمها مكتبة. Topic mental retardation\nbelow average level of intellectual functioning, usually defined by an IQ of below 70 to 75, combined with limitations in the skills necessary for\nتحتوي صفحات الموضوع على نظرة عامة وتعريفات وسير ذاتية وموضوعات ذات صلة وصور بالإضافة إلى روابط إلى مقالات ذات صلة ومحتويات أخرى تقدمها مكتبة. Topic Autism\nIntroduction Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by difficulties with social communication and the presence"