Journal of Autism and Developmental Disorders

, Volume 35, Issue 1, pp 103–116 | Cite as

Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification

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


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.


Autism specific genetic disease multidisciplinary approach 


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Copyright information

© Springer Science+Business Media, Inc. 2005

Authors and Affiliations

  • David Cohen
    • 1
    • 7
    Email author
  • Nadège Pichard
    • 2
  • Sylvie Tordjman
    • 2
  • Clarisse Baumann
    • 3
  • Lydie Burglen
    • 4
  • Elsa Excoffier
    • 5
  • Gabriela Lazar
    • 1
  • Philippe Mazet
    • 1
  • Clément Pinquier
    • 1
  • Alain Verloes
    • 3
  • Delphine Héron
    • 6
  1. 1.Service de Psychiatrie de l’Enfant et de l’AdolescentGroupe Hospitalier Pitie’ -Salpe’ trie‘ reParis
  2. 2.CNRS UMR 7593, Vulnérabilité, Adaptation et PsychopathologieGroupe Hospitalier Pitie’ -Salpe’ trie‘ reParis
  3. 3.Unité de Génétique CliniqueGroupe Hospitalier Robert DebreParis
  4. 4.Service de NeuropédiatrieGroupe Hospitalier Armand TrousseauParis
  5. 5.Service de PédopsychiatrieGroupe Hospitalier Robert DebréParis
  6. 6.Fédération de GénétiqueGroupe Hospitalier Pitié-SalpétrièreParis
  7. 7.Department of Child and Adolescent PsychiatryGroupe Hospitalier Pitié-SalpétrièreParisFrance

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