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

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

doi:10.1016/j.neubiorev.2017.01.030

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

Neurosci Biobehav Rev. 2017 Sep:80:210. doi: 10.1016/j.neubiorev.2017.01.030. Epub 2017 Jan 30.

Authors

S Tordjman¹, D Cohen², N Coulon³, G M Anderson⁴, M Botbol⁵, R Canitano⁶, P L Roubertoux⁷

Affiliations

¹ Pôle Hospitalo-Universitaire de Psychiatrie de l'Enfant et de l'Adolescent, Université de Rennes 1 and Centre Hospitalier Guillaume Régnier, 154 rue de Châtillon, 35200 Rennes, France; Laboratoire Psychologie de la Perception, Université Paris Descartes and CNRS UMR 8158, Paris, France. Electronic address: s.tordjman@yahoo.fr.
² Department of Child and Adolescent Psychiatry, AP-HP, GH Pitié-Salpétrière, CNRS FRE 2987, Université Pierre et Marie Curie, Paris, France.
³ Laboratoire Psychologie de la Perception, Université Paris Descartes and CNRS UMR 8158, Paris, France.
⁴ Child Study Center, Yale University School of Medicine, New Haven, CT, USA.
⁵ Departement Hospitalo-Universitaire de Psychiatrie de l'Enfant et de l'Adolescent, Université de Bretagne Occidentale, Brest, France.
⁶ Division of Child and Adolescent Neuropsychiatry, University Hospital of Siena, Siena, Italy.
⁷ Aix Marseille Université, GMGF, Inserm, UMR_S 910, 13385, Marseille, France.

PMID: 28153685
DOI: 10.1016/j.neubiorev.2017.01.030

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

Publication types

Review