Repint of ``Reframing autism as a behavioral syndrome and not a specific mental disorder: Implications of genetic and phenotypic heterogeneity''

S. Tordjman; D. Cohen; G. M. Anderson; M. Botbol; R. Canitano; N. Coulon; Pierre L. Roubertoux

doi:10.1016/j.neubiorev.2018.01.014

Journal articles

Repint of ``Reframing autism as a behavioral syndrome and not a specific mental disorder: Implications of genetic and phenotypic heterogeneity''

S. Tordjman ^{1, 2} D. Cohen ³ G. M. Anderson M. Botbol R. Canitano N. Coulon ¹ Pierre L. Roubertoux ⁴

1 LPP - UMR 8242 - Laboratoire Psychologie de la Perception

2 Centre Hospitalier Guillaume Régnier [Rennes]

3 CHU Pitié-Salpêtrière [AP-HP]

4 MMG - Marseille medical genetics - Centre de génétique médicale de Marseille

Abstract : Clinical and molecular genetics have advanced current knowledge on genetic disorders associated with autism. A review of diverse genetic disorders associated with autism is presented and for the first time discussed extensively with regard to possible common underlying mechanisms leading to a similar cognitive-behavioral phenotype of autism. The possible role of interactions between genetic and environmental factors, including epigenetic mechanisms, is in particular examined. Finally, the pertinence of distinguishing non-syndromic autism (isolated autism) from syndromic autism (autism associated with genetic disorders) will be reconsidered. Given the high genetic and etiological heterogeneity of autism, autism can be viewed as a behavioral syndrome related to known genetic disorders (syndromic autism) or currently unknown disorders (apparent non-syndromic autism), rather than a specific categorical mental disorder. It highlights the need to study autism phenotype and developmental trajectory through a multidimensional, non-categorical approach with multivariate analyses within autism spectrum disorder but also across mental disorders, and to conduct systematically clinical genetic examination searching for genetic disorders in all individuals (children but also adults) with autism.

Keywords : Autistic spectrum disorder Autistic syndrome Autism Genetic disorders Environment Epigenetics Multifactorial Multidimensional approach Developmental trajectory Categorical diagnosis Transnosographic approach

Document type :

Journal articles

Domain :

Life Sciences [q-bio] / Genetics / Human genetics

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https://hal-amu.archives-ouvertes.fr/hal-01812461
Contributor : Valérie Gall <>
Submitted on : Monday, June 11, 2018 - 2:18:18 PM
Last modification on : Friday, December 11, 2020 - 3:20:33 AM

Repint of ``Reframing autism as a behavioral syndrome and not a specific mental disorder: Implications of genetic and phenotypic heterogeneity''

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Repint of ``Reframing autism as a behavioral syndrome and not a specific mental disorder: Implications of genetic and phenotypic heterogeneity''

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