Volume 37, Issue 7 p. 785-801

A Broader Phenotype of Autism: The Clinical Spectrum in Twins

Ann Le Couteur

Corresponding Author

Ann Le Couteur

Fleming Nuffield Unit, Newcastle Upon Tyne, U.K.

Requests for reprints to: Dr A. Le Couteur, Academic department of Child and Adolescent Psychiatry, Fleming Nuffield Unit, Burdon Terrace, Jesmond, Newcastle Upon Tyne NE2 3AE, U.K.Search for more papers by this author
Anthony Bailey

Anthony Bailey

Institute of Psychiatry, London, U.K.

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Susan Goode

Susan Goode

Institute of Psychiatry, London, U.K.

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Andrew Pickles

Andrew Pickles

Institute of Psychiatry, London, U.K.

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Irving Gottesman

Irving Gottesman

University of Virginia, Charlottesville, U.S.A.

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Sarah Robertson

Sarah Robertson

St George's Hospital, London, U.K.

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Michael Rutter

Michael Rutter

Institute of Psychiatry, London, U.K.

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First published: OCTOBER 1996
Citations: 312

Abstract

The diagnostic boundaries of the behavioural phenotype for autism were examined in 28 MZ pairs and 20 DZ same-sex twin pairs, where one or both twins had autism. In the non-autistic cotwin (i.e. In twin pairs discordant for autism) it was common to find language impairments in childhood and social deficits persisting into adulthood. Concordance for this broader phenotype was much greater in MZ pairs than DZ pairs, indicating a strong genetic component. Behavioural and cognitive manifestations of autism were compared both within and between MZ twin pairs. The variation was as great within MZ twin pairs as between pairs, suggesting that it does not index genetic heterogeneity (although aetiological heterogeneity probably exists). Current diagnostic practices need re-evaluation.