Autism, language and communication in children with sex chromosome trisomies

Dorothy V M Bishop*, Patricia A. Jacobs, Katherine Lachlan, Diana Wellesley, Angela Barnicoat, Patricia A. Boyd, Alan Fryer, Prisca Middlemiss, Sarah Smithson, Kay Metcalfe, Deborah Shears, Victoria Leggett, Kate Nation, Gaia Scerif

*Corresponding author for this work

    Research output: Contribution to journalArticlepeer-review

    110 Citations (Scopus)


    Purpose: Sex chromosome trisomies (SCTs) are found on amniocentesis in 2.3-3.7 per 1000 same-sex births, yet there is a limited database on which to base a prognosis. Autism has been described in postnatally diagnosed cases of Klinefelter syndrome (XXY karyotype), but the prevalence in non-referred samples, and in other trisomies, is unclear. The authors recruited the largest sample including all three SCTs to be reported to date, including children identified on prenatal screening, to clarify this issue. Design: Parents of children with a SCT were recruited either via prenatal screening or via a parental support group, to give a sample of 58 XXX, 19 XXY and 58 XYY cases. Parents were interviewed using the Vineland Adaptive Behavior Scales and completed questionnaires about the communicative development of children with SCTs and their siblings (42 brothers and 26 sisters). Results: Rates of language and communication problems were high in all three trisomies. Diagnoses of autism spectrum disorder (ASD) were found in 2/19 cases of XXY (11%) and 11/58 XYY (19%). After excluding those with an ASD diagnosis, communicative profi les indicative of mild autistic features were common, although there was wide individual variation. Conclusions: Autistic features have not previously been remarked upon in studies of non-referred samples with SCTs, yet the rate is substantially above population levels in this sample, even when attention is restricted to early-identified cases. The authors hypothesise that X-linked and Y-linked neuroligins may play a significant role in the aetiology of communication impairments and ASD.

    Original languageEnglish
    Pages (from-to)954-959
    Number of pages6
    JournalArchives of Disease in Childhood
    Issue number10
    Publication statusPublished - Oct 2011


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