Social cognition and underlying cognitive mechanisms in children with an extra X chromosome: A comparison with autism spectrum disorder

S. van Rijn*, L. Stockmann, G. van Buggenhout, C. van Ravenswaaij-Arts, H. Swaab

*Corresponding author for this work

    Research output: Contribution to journalArticleAcademicpeer-review

    36 Citations (Scopus)


    Individuals with an extra X chromosome are at increased risk for autism symptoms. This study is the first to assess theory of mind and facial affect labeling in children with an extra X chromosome. Forty-six children with an extra X chromosome (29 boys with Klinefelter syndrome and 17 girls with Trisomy X), 56 children with autism spectrum disorder (ASD) and 88 non-clinical controls, aged 9-18 years, were included. Similar to children with ASD, children with an extra X chromosome showed significant impairments in social cognition. Regression analyses showed that different cognitive functions predicted social cognitive skills in the extra X and ASD groups. The social cognitive deficits were similar for boys and girls with an extra X chromosome, and not specific for a subgroup with high Autism Diagnostic Interview Revised autism scores. Thus, children with an extra X chromosome show social cognitive deficits, which may contribute to social dysfunction, not only in children showing a developmental pattern that is 'typical' for autism but also in those showing mild or late presenting autism symptoms. Our findings may also help explain variance in type of social deficit: children may show similar social difficulties, but these may arise as a consequence of different underlying information processing deficits.

    Original languageEnglish
    Pages (from-to)459-467
    Number of pages9
    JournalGenes, Brain and Behaviour
    Issue number5
    Publication statusPublished - Jun-2014


    • Autism
    • facial expressions
    • Klinefelter
    • theory of mind
    • Trisomy X
    • MIND
    • BOYS
    • XYY
    • XXY

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