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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doi.org/10.1007/s10803-013-1860-5, hdl.handle.net/1765/71846
Journal of Autism and Developmental Disorders
Department of Clinical Genetics

van Rijn, S., Stockmann, L., Borghgraef, S., Bruining, H., van Ravenswaaij-Arts, C., Govaerts, L., … Swaab, H. (2013). The Social Behavioral Phenotype in Boys and Girls with an Extra X Chromosome (Klinefelter Syndrome and Trisomy X): A Comparison with Autism Spectrum Disorder. Journal of Autism and Developmental Disorders, 1–11. doi:10.1007/s10803-013-1860-5