患有额外一条X染色体的男孩和女孩（克兰费尔特综合征和X三体综合征）的社会行为表型：与自闭症谱系障碍的比较。
The social behavioral phenotype in boys and girls with an extra X chromosome (Klinefelter syndrome and Trisomy X): a comparison with autism spectrum disorder.
作者信息
van Rijn Sophie, Stockmann Lex, Borghgraef Martine, Bruining Hilgo, van Ravenswaaij-Arts Conny, Govaerts Lutgarde, Hansson Kerstin, Swaab Hanna
机构信息
Clinical Child and Adolescent Studies, Leiden University, Wassenaarseweg 52, 2333 AK, Leiden, The Netherlands,
出版信息
J Autism Dev Disord. 2014 Feb;44(2):310-20. doi: 10.1007/s10803-013-1860-5.
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.
本研究旨在更深入地了解与自闭症谱系障碍（ASD）儿童相比，具有额外X染色体的儿童的社会行为表型及相关自闭症症状。研究参与者包括60名具有额外X染色体的儿童（34名患有克兰费尔特综合征的男孩和26名患有X三体综合征的女孩）、58名ASD儿童和106名对照组儿童，年龄在9至18岁之间。我们使用了自闭症诊断访谈、社会反应量表、社交焦虑量表和社交技能评定系统。在额外X染色体组中，社会功能障碍和自闭症症状水平有所增加，介于对照组和ASD组之间。与ASD组不同的是，额外X染色体组表现出社交焦虑增加。对于具有额外X染色体的男孩和女孩，这些影响是相似的。
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