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: David Cohen, Nadège Pichard, Sylvie Tordjman, Clarisse Baumann, Lydie Burglen, Elsa Excoffier, Gabriela Lazar, Philippe Mazet, Clément Pinquier, Alain Verloes, Delphine Héron
• Journal: Journal of autism and developmental disorders (J Autism Dev Disord) Vol. 35 Issue 1 Pg. 103-16 (Feb 2005) ISSN: 0162-3257 [Print] United States
• PMID: 15796126 (Publication Type: Journal Article, Review)

Topics

• Autistic Disorder (diagnosis, epidemiology, genetics)
• Causality
• Child
• Chromosome Aberrations (statistics & numerical data)
• Comorbidity
• Genetic Counseling
• Genetic Diseases, Inborn (diagnosis, epidemiology, genetics)
• Genetic Predisposition to Disease (genetics)
• Humans
• Phenotype
• Syndrome