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Specific genetic disorders and autism: Clinical contribution toward their identification

Service de Psychiatrie de l'Enfant et de l'Adolescent, Groupe Hospitalier Pitié-Salpétrière, Paris.
Journal of Autism and Developmental Disorders (Impact Factor: 3.34). 03/2005; 35(1):103-16. DOI: 10.1007/s10803-004-1038-2
Source: PubMed

ABSTRACT Autism is a heterogeneous disorder that can reveal a specific genetic disease. This paper describes several genetic diseases consistently associated with autism (fragile X, tuberous sclerosis, Angelman syndrome, duplication of 15q11-q13, Down syndrome, San Filippo syndrome, MECP2 related disorders, phenylketonuria, Smith-Magenis syndrome, 22q13 deletion, adenylosuccinate lyase deficiency, Cohen syndrome, and Smith-Lemli-Opitz syndrome) and proposes a consensual and economic diagnostic strategy to help practitioners to identify them. A rigorous initial clinical screening is presented to avoid unnecessary laboratory and imaging studies. Regarding psychiatric nosography, the concept of "syndromal autism"--autism associated with other clinical signs should be promoted because it may help to distinguish patients who warrant a multidisciplinary approach and further investigation.

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Available from: Alain Verloes, Aug 17, 2015
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    • "Il semblerait que les différences entre le QI verbal et le QI performance diminuent lorsque le langage est préservé. D'autre part, il est important de noter que la présence de comorbidité est la règle dans le groupe TSA avec déficience intellectuelle (par exemple l'épilepsie [33]) confinant parfois à un tableau d'autisme syndromique [34]. Plusieurs déficits cognitifs spécifiques ont été associés aux TSA. "
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    • "Additionally, 10–20% of FXS patients experience seizures (Incorpora et al., 2002; Hagerman and Stafstrom, 2009). Approximately 15–33% of individuals with FXS meet the three diagnostic criteria for autism, with approximately 5% of autism cases attributed to FXS (Bailey et al., 1998; Cohen et al., 2005). Consistent with autism spectrum disorder, many individuals with FXS display deficits in social behavior, repetitive behavior, and abnormalities in communication. "
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