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2005:
Cohen David; Pichard Nadège; Tordjman Sylvie; Baumann Clarisse; Burglen Lydie; Excoffier Elsa; Lazar Gabriela; Mazet Philippe; Pinquier Clément; Verloes Alain; Héron Delphine
Specific genetic disorders and autism: clinical contribution towards their identification.
Journal of autism and developmental disorders 2005;
35(
1):.
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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