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      Social behavior and autism traits in a sex chromosomal disorder: Klinefelter (47XXY) syndrome.

      Journal of Autism and Developmental Disorders
      Adult, Autistic Disorder, diagnosis, Chromosomes, Human, X, genetics, Cognition Disorders, Depression, psychology, Humans, Interpersonal Relations, Klinefelter Syndrome, Male, Neuropsychological Tests, Psychometrics, Questionnaires, Severity of Illness Index, Social Behavior

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          Although Klinefelter syndrome (47,XXY) has been associated with psychosocial difficulties, knowledge of the social behavioral phenotype is limited. We examined specific social abilities and autism traits in Klinefelter syndrome. Scores of 31 XXY men on the Scale for Interpersonal Behavior and the Autism Spectrum Questionnaire were compared to 24 and 20 control men respectively. XXY men reported increased distress during social interactions and less engagement in specific social behaviors. In the XXY group, levels of autism traits were significantly higher across all dimensions of the autism phenotype. These findings call for a clinical investigation of vulnerability to autism in Klinefelter syndrome. Klinefelter syndrome might serve as a model for studying a role of the X chromosome in social behavioral dysfunction and autism-like behavior.

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