By the same authors

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Language and traits of autism spectrum conditions: Evidence of limited phenotypic and etiological overlap

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Published copy (DOI)



Publication details

JournalAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics
DateE-pub ahead of print - 2 Aug 2014
DatePublished (current) - Oct 2014
Issue number7
Number of pages9
Pages (from-to)587-595
Early online date2/08/14
Original languageEnglish


Language difficulties have historically been viewed as integral to autism spectrum conditions (ASC), leading molecular genetic studies to consider whether ASC and language difficulties have overlapping genetic bases. The extent of genetic, and also environmental, overlap between ASC and language is, however, unclear. We hence conducted a twin study of the concurrent association between autistic traits and receptive language abilities. Internet-based language tests were completed by ∼3,000 pairs of twins, while autistic traits were assessed via parent ratings. Twin model fitting explored the association between these measures in the full sample, while DeFries-Fulker analysis tested these associations at the extremes of the sample. Phenotypic associations between language ability and autistic traits were modest and negative. The degree of genetic overlap was also negative, indicating that genetic influences on autistic traits lowered language scores in the full sample (mean genetic correlation=-0.13). Genetic overlap was also low at the extremes of the sample (mean genetic correlation=0.14), indicating that genetic influences on quantitatively defined language difficulties were largely distinct from those on extreme autistic traits. Variation in language ability and autistic traits were also associated with largely different nonshared environmental influences. Language and autistic traits are influenced by largely distinct etiological factors. This has implications for molecular genetic studies of ASC and understanding the etiology of ASC. Additionally, these findings lend support to forthcoming DSM-5 changes to ASC diagnostic criteria that will see language difficulties separated from the core ASC communication symptoms, and instead listed as a clinical specifier.

Bibliographical note

© 2014 Wiley Periodicals, Inc.

    Research areas

  • Autism, Receptive language, Twin study

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