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The Social Behavioral Phenotype in Boys and Girls with an Extra X Chromosome (Klinefelter Syndrome and Trisomy X): A Comparison with Autism Spectrum Disorder

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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.

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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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Authors and Affiliations

  1. Clinical Child and Adolescent Studies, Leiden University, Wassenaarseweg 52, 2333 AK, Leiden, The Netherlands

    Sophie van Rijn, Lex Stockmann & Hanna Swaab

  2. Leiden Institute for Brain and Cognition, P.O. Box 9600, 2300 RC, Leiden, The Netherlands

    Sophie van Rijn & Hanna Swaab

  3. Autism Center Rivierduinen, Sandifortdreef 19, 2333 ZZ, Leiden, The Netherlands

    Lex Stockmann

  4. Center for Human Genetics, University Hospital of Leuven, Herestraat 49, 3000, Leuven, Belgium

    Martine Borghgraef

  5. Department of Psychiatry, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, 3584 CX, Utrecht, The Netherlands

    Hilgo Bruining

  6. Department of Genetics, University Medical Center Groningen, University of Groningen, Hanzeplein 1, 9700 RB, Groningen, The Netherlands

    Conny van Ravenswaaij-Arts

  7. Department of Clinical Genetics, Erasmus Medical Center, Dr. Molewaterplein 50, 3015 GE, Rotterdam, The Netherlands

    Lutgarde Govaerts

  8. Department of Clinical Genetics, LDGA, Leiden University Medical Center, P.O. Box 9600, 2300 RC, Leiden, The Netherlands

    Kerstin Hansson

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  1. Sophie van Rijn
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Correspondence to Sophie van Rijn.

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van Rijn, S., Stockmann, L., Borghgraef, M. et al. The Social Behavioral Phenotype in Boys and Girls with an Extra X Chromosome (Klinefelter Syndrome and Trisomy X): A Comparison with Autism Spectrum Disorder. J Autism Dev Disord 44, 310–320 (2014). https://doi.org/10.1007/s10803-013-1860-5

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  • DOI: https://doi.org/10.1007/s10803-013-1860-5

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