van Rijn Sophie, Swaab Hanna, Aleman André, Kahn René S
Department of Experimental Psychology, Helmholtz Instituut, Universiteit Utrecht, Utrecht, The Netherlands.
J Autism Dev Disord. 2008 Oct;38(9):1634-41. doi: 10.1007/s10803-008-0542-1. Epub 2008 Mar 7.
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.
尽管克兰费尔特综合征（47,XXY）与心理社会问题有关，但对其社会行为表型的了解有限。我们研究了克兰费尔特综合征患者的特定社交能力和自闭症特征。分别将31名XXY男性在人际行为量表和自闭症谱系问卷上的得分与24名和20名对照男性进行比较。XXY男性报告称在社交互动中痛苦增加，且较少参与特定社交行为。在XXY组中，自闭症特征水平在自闭症表型的所有维度上均显著更高。这些发现呼吁对克兰费尔特综合征患者患自闭症的易感性进行临床研究。克兰费尔特综合征可能作为研究X染色体在社会行为功能障碍和自闭症样行为中作用的一个模型。
