Journal of Autism and Developmental Disorders

, Volume 44, Issue 2, pp 310–320 | Cite as

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
Original Paper

Abstract

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.

Keywords

Klinefelter Trisomy X Autism Social functioning X chromosome Sex chromosomal aneuploidies 

Notes

Acknowledgments

This work was supported by a VENI grant (Grant Number 016.095.060 to SvR) from the Netherlands Organization for Scientific Research (NWO).

Conflict of interest

The authors declare that they have no conflict of interest.

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Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  • Sophie van Rijn
    • 1
    • 2
  • Lex Stockmann
    • 1
    • 3
  • Martine Borghgraef
    • 4
  • Hilgo Bruining
    • 5
  • Conny van Ravenswaaij-Arts
    • 6
  • Lutgarde Govaerts
    • 7
  • Kerstin Hansson
    • 8
  • Hanna Swaab
    • 1
    • 2
  1. 1.Clinical Child and Adolescent StudiesLeiden UniversityLeidenThe Netherlands
  2. 2.Leiden Institute for Brain and CognitionLeidenThe Netherlands
  3. 3.Autism Center RivierduinenLeidenThe Netherlands
  4. 4.Center for Human GeneticsUniversity Hospital of LeuvenLeuvenBelgium
  5. 5.Department of Psychiatry, University Medical Center UtrechtUtrecht UniversityUtrechtThe Netherlands
  6. 6.Department of Genetics, University Medical Center GroningenUniversity of GroningenGroningenThe Netherlands
  7. 7.Department of Clinical GeneticsErasmus Medical CenterRotterdamThe Netherlands
  8. 8.Department of Clinical Genetics, LDGALeiden University Medical CenterLeidenThe Netherlands

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