TY - JOUR
T1 - Specific genetic disorders and autism
T2 - Clinical contribution towards their identification
AU - Cohen, David
AU - Pichard, Nadège
AU - Tordjman, Sylvie
AU - Baumann, Clarisse
AU - Burglen, Lydie
AU - Excoffier, Elsa
AU - Lazar, Gabriela
AU - Mazet, Philippe
AU - Pinquier, Clément
AU - Verloes, Alain
AU - Héron, Delphine
PY - 2005/2
Y1 - 2005/2
N2 - 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.
AB - 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.
KW - Autism
KW - Multidisciplinary approach
KW - Specific genetic disease
UR - http://www.scopus.com/inward/record.url?scp=21244472348&partnerID=8YFLogxK
U2 - 10.1007/s10803-004-1038-2
DO - 10.1007/s10803-004-1038-2
M3 - Article
C2 - 15796126
AN - SCOPUS:21244472348
SN - 0162-3257
VL - 35
SP - 103
EP - 116
JO - Journal of Autism and Developmental Disorders
JF - Journal of Autism and Developmental Disorders
IS - 1
ER -