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Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification

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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.

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Authors and Affiliations

  1. Service de Psychiatrie de l’Enfant et de l’Adolescent, Groupe Hospitalier Pitie’ -Salpe’ trie‘ re, Paris

    David Cohen, Gabriela Lazar, Philippe Mazet & Clément Pinquier

  2. CNRS UMR 7593, Vulnérabilité, Adaptation et Psychopathologie, Groupe Hospitalier Pitie’ -Salpe’ trie‘ re, Paris

    Nadège Pichard & Sylvie Tordjman

  3. Unité de Génétique Clinique, Groupe Hospitalier Robert Debre, Paris

    Clarisse Baumann & Alain Verloes

  4. Service de Neuropédiatrie, Groupe Hospitalier Armand Trousseau, Paris

    Lydie Burglen

  5. Service de Pédopsychiatrie, Groupe Hospitalier Robert Debré, Paris

    Elsa Excoffier

  6. Fédération de Génétique, Groupe Hospitalier Pitié-Salpétrière, Paris

    Delphine Héron

  7. Department of Child and Adolescent Psychiatry, Groupe Hospitalier Pitié-Salpétrière, AP-HP 47 bd de l’Hôpital, 75013, Paris, France

    David Cohen

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  1. David Cohen
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Cohen, D., Pichard, N., Tordjman, S. et al. Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification. J Autism Dev Disord 35, 103–116 (2005). https://doi.org/10.1007/s10803-004-1038-2

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  • DOI: https://doi.org/10.1007/s10803-004-1038-2

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