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Dosage effects of X and Y chromosomes on language and social functioning in children with supernumerary sex chromosome aneuploidies: implications for idiopathic language impairment and autism spectrum disorders
Journal article   Open access   Peer reviewed

Dosage effects of X and Y chromosomes on language and social functioning in children with supernumerary sex chromosome aneuploidies: implications for idiopathic language impairment and autism spectrum disorders

Nancy Raitano Lee, Gregory L. Wallace, Elizabeth I. Adeyemi, Katherine C. Lopez, Jonathan D. Blumenthal, Liv S. Clasen and Jay N. Giedd
Journal of child psychology and psychiatry, v 53(10), pp 1072-1081
01 Oct 2012
PMID: 22827287
url
https://europepmc.org/articles/pmc3480208View
Accepted (AM)Open Access (License Unspecified) Open

Abstract

Life Sciences & Biomedicine Psychiatry Psychology Psychology, Developmental Science & Technology Social Sciences
Background: Supernumerary sex chromosome aneuploidies (X/Y-aneuploidies), the presence of extra X and/or Y chromosomes, are associated with heightened rates of language impairments and social difficulties. However, no single study has examined different language domains and social functioning in the same sample of children with tri-, tetra-, and pentasomy X/Y-aneuploidy. The current research sought to fill this gap in the literature and to examine dosage effects of X and Y chromosomes on language and social functioning. Methods: Participants included 110 youth with X/Y-aneuploidies (32 female) and 52 with typical development (25 female) matched on age (mean similar to 12 years; range 422) and maternal education. Participants completed the Wechsler intelligence scales, and parents completed the Childrens Communication Checklist-2 and the Social Responsiveness Scale to assess language skills and autistic traits, respectively. Results: Both supernumerary X and Y chromosomes were related to depressed structural and pragmatic language skills and increased autistic traits. The addition of a Y chromosome had a disproportionately greater impact on pragmatic language; the addition of one or more X chromosomes had a disproportionately greater impact on structural language. Conclusions: Given that we link extra X chromosomes with structural language impairments and an extra Y chromosome with pragmatic language impairments, X/Y-aneuploidies may provide clues to genetic mechanisms contributing to idiopathic language impairment and autism spectrum disorders.

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Web of Science research areas
Psychiatry
Psychology
Psychology, Developmental
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