The social behavioral phenotype in boys and girls with an extra X chromosome (Klinefelter syndrome and Trisomy X): A comparison with autism spectrum disorder

Sophie Van Rijn, Lex Stockmann, Martine Borghgraef, Hilgo Bruining, Conny Van Ravenswaaij-Arts, Lutgarde Govaerts, Kerstin Hansson, Hanna Swaab

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The present study aimed to gain more insight in the social behavioral phenotype, and related autistic symptomatology, of children with an extra X chromosome in comparison to children with ASD. Participants included 60 children with an extra X chromosome (34 boys with Klinefelter syndrome and 26 girls with Trisomy X), 58 children with ASD and 106 controls, aged 9 to 18 years. We used the Autism Diagnostic Interview, Social Responsiveness Scale, Social Anxiety Scale and Social Skills Rating System. In the extra X group, levels of social dysfunction and autism symptoms were increased, being in between controls and ASD. In contrast to the ASD group, the extra X group showed increased social anxiety. The effects were similar for boys and girls with an extra X chromosome.

Original languageEnglish
Pages (from-to)310-320
Number of pages11
JournalJournal of Autism and Developmental Disorders
Issue number2
Publication statusPublished - Feb 2014
Externally publishedYes


  • Autism
  • Klinefelter
  • Sex chromosomal aneuploidies
  • Social functioning
  • Trisomy x
  • X chromosome

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