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

J Child Psychol Psychiatry. 2012 Oct;53(10):1072-81. doi: 10.1111/j.1469-7610.2012.02573.x. Epub 2012 Jul 25.


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 ∼12 years; range 4-22) and maternal education. Participants completed the Wechsler intelligence scales, and parents completed the children's 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.

Publication types

  • Research Support, N.I.H., Intramural

MeSH terms

  • Adolescent
  • Adult
  • Analysis of Variance
  • Aneuploidy*
  • Child
  • Child Development Disorders, Pervasive / genetics*
  • Child, Preschool
  • Chromosomes, Human, X / genetics*
  • Chromosomes, Human, Y / genetics*
  • Female
  • Gene Dosage / genetics
  • Humans
  • Language
  • Language Disorders / genetics*
  • Male
  • Sex Chromosome Disorders / complications*
  • Social Behavior*
  • Surveys and Questionnaires
  • Young Adult