title: Specific genetic disorders and autism: clinical contribution towards their identification.
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.
authors.affiliation: Service de Psychiatrie de l'Enfant et de l'Adolescent, Groupe Hospitalier Pitié-Salpétrière, Paris. david.cohen@psl.ap-hop-paris.fr
authors.forename: David
authors.initials: D
authors.lastname: Cohen
authors.forename: Nadège
authors.initials: N
authors.lastname: Pichard
authors.forename: Sylvie
authors.initials: S
authors.lastname: Tordjman
authors.forename: Clarisse
authors.initials: C
authors.lastname: Baumann
authors.forename: Lydie
authors.initials: L
authors.lastname: Burglen
authors.forename: Elsa
authors.initials: E
authors.lastname: Excoffier
authors.forename: Gabriela
authors.initials: G
authors.lastname: Lazar
authors.forename: Philippe
authors.initials: P
authors.lastname: Mazet
authors.forename: Clément
authors.initials: C
authors.lastname: Pinquier
authors.forename: Alain
authors.initials: A
authors.lastname: Verloes
authors.forename: Delphine
authors.initials: D
authors.lastname: Héron
mesh_terms: D001321:Autistic Disorder / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D015984:Causality; D002648:Child; D002869:Chromosome Aberrations / Q000706:statistics & numerical data; D015897:Comorbidity; D005817:Genetic Counseling; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D010641:Phenotype; D013577:Syndrome