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- Title
Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification.
- Authors
Cohen, David; Pichard, Nadège; Tordjman, Sylvie; Baumann, Clarisse; Burglen, Lydie; Excoffier, Elsa; Lazar, Gabriela; Mazet, Philippe; Pinquier, Clément; Verloes, Alain; Héron, Delphine
- 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.
- Subjects
DEVELOPMENTAL disabilities; MEDICAL genetics; GENETIC disorder diagnosis; DISABILITIES; FAMILIAL diseases
- Publication
Journal of Autism & Developmental Disorders, 2005, Vol 35, Issue 1, p103
- ISSN
0162-3257
- Publication type
Article
- DOI
10.1007/s10803-004-1038-2