Journal of Autism and Developmental Disorders

, Volume 35, Issue 1, pp 103–116

Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification

Authors

    • Service de Psychiatrie de l’Enfant et de l’AdolescentGroupe Hospitalier Pitie’ -Salpe’ trie‘ re
    • Department of Child and Adolescent PsychiatryGroupe Hospitalier Pitié-Salpétrière
  • Nadège Pichard
    • CNRS UMR 7593, Vulnérabilité, Adaptation et PsychopathologieGroupe Hospitalier Pitie’ -Salpe’ trie‘ re
  • Sylvie Tordjman
    • CNRS UMR 7593, Vulnérabilité, Adaptation et PsychopathologieGroupe Hospitalier Pitie’ -Salpe’ trie‘ re
  • Clarisse Baumann
    • Unité de Génétique CliniqueGroupe Hospitalier Robert Debre
  • Lydie Burglen
    • Service de NeuropédiatrieGroupe Hospitalier Armand Trousseau
  • Elsa Excoffier
    • Service de PédopsychiatrieGroupe Hospitalier Robert Debré
  • Gabriela Lazar
    • Service de Psychiatrie de l’Enfant et de l’AdolescentGroupe Hospitalier Pitie’ -Salpe’ trie‘ re
  • Philippe Mazet
    • Service de Psychiatrie de l’Enfant et de l’AdolescentGroupe Hospitalier Pitie’ -Salpe’ trie‘ re
  • Clément Pinquier
    • Service de Psychiatrie de l’Enfant et de l’AdolescentGroupe Hospitalier Pitie’ -Salpe’ trie‘ re
  • Alain Verloes
    • Unité de Génétique CliniqueGroupe Hospitalier Robert Debre
  • Delphine Héron
    • Fédération de GénétiqueGroupe Hospitalier Pitié-Salpétrière
Article

DOI: 10.1007/s10803-004-1038-2

Cite this article as:
Cohen, D., Pichard, N., Tordjman, S. et al. J Autism Dev Disord (2005) 35: 103. doi:10.1007/s10803-004-1038-2

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.

Keywords

Autismspecific genetic diseasemultidisciplinary approach

Copyright information

© Springer Science+Business Media, Inc. 2005