Specific genetic disorders and autism: Clinical contribution towards their identification

David Cohen, Nadège Pichard, Sylvie Tordjman, Clarisse Baumann, Lydie Burglen, Elsa Excoffier, Gabriela Lazar, Philippe Mazet, Clément Pinquier, Alain Verloes, Delphine Héron

Research output: Contribution to journalArticlepeer-review

232 Scopus citations


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.

Original languageEnglish
Pages (from-to)103-116
Number of pages14
JournalJournal of Autism and Developmental Disorders
Issue number1
StatePublished - Feb 2005
Externally publishedYes


  • Autism
  • Multidisciplinary approach
  • Specific genetic disease


Dive into the research topics of 'Specific genetic disorders and autism: Clinical contribution towards their identification'. Together they form a unique fingerprint.

Cite this