Specific genetic disorders and autism: clinical contribution towards their identification.
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.
Cohen
David
D
Service de Psychiatrie de l'Enfant et de l'Adolescent, Groupe Hospitalier Pitié-Salpétrière, Paris. david.cohen@psl.ap-hop-paris.fr
Pichard
Nadège
N
Tordjman
Sylvie
S
Baumann
Clarisse
C
Burglen
Lydie
L
Excoffier
Elsa
E
Lazar
Gabriela
G
Mazet
Philippe
P
Pinquier
Clément
C
Verloes
Alain
A
Héron
Delphine
D
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