van Rijn Sophie, Swaab Hanna, Aleman André, Kahn René S
Department of Psychiatry, Rudolf Magnus Institute for Neuroscience, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX, Utrecht, The Netherlands.
Schizophr Res. 2006 Jun;84(2-3):194-203. doi: 10.1016/j.schres.2006.02.020. Epub 2006 Apr 17.
Studying Klinefelter syndrome (47,XXY), a genetically defined disorder characterized by the presence of an additional X chromosome, can reveal insights into genotype-phenotype associations. Increased vulnerability to psychiatric disorders characterized by difficulties in social interactions, such as schizophrenia and autism, has been reported for this population. The reported social difficulties in 47,XXY men may arise as a consequence of impairments in the processing of social and emotional information. The present study is the first investigation of social-emotional information processing in this X chromosomal disorder. 32 Klinefelter men and 26 men from the general population, with the groups matched for age, educational level and I.Q., participated in the study. Several tasks were included, reflecting aspects of social-emotional information processing on levels of perception, experience and expression: labeling of facial expressions of emotion, emotion-cognition interactions in decision making and emotion regulation, that refers to subjective experience and identification of emotional arousal as well as verbal expression of emotions. A discrepancy between cognitive appraisal of emotions and emotional arousal was observed in Klinefelter syndrome. Taken together, Klinefelter men seem less accurate in perception of socio-emotional cues such as angry facial expressions, they are less able to identify and verbalize their emotions, but experience increased levels of emotional arousal, in comparison to the general population. Besides describing the social-emotional phenotype of this X chromosomal disorder, the present data may prove to be an important contribution to the development of more general models describing pathways to neuropsychiatric disorders characterized by social cognitive disturbances.
研究克兰费尔特综合征（47,XXY），一种由额外的X染色体存在所定义的遗传性疾病，能够揭示基因型与表型关联的见解。据报道，这一人群更容易患上以社交互动困难为特征的精神疾病，如精神分裂症和自闭症。47,XXY男性中所报道的社交困难可能是由于社交和情感信息处理受损所致。本研究是对这种X染色体疾病中社交情感信息处理的首次调查。32名克兰费尔特男性和26名来自普通人群的男性参与了研究，两组在年龄、教育水平和智商方面相匹配。研究包括了几项任务，反映了社交情感信息处理在感知、体验和表达层面的各个方面：对情感面部表情的标注、决策中的情感认知互动以及情感调节，情感调节涉及主观体验、情感唤醒的识别以及情感的言语表达。在克兰费尔特综合征中观察到了情感的认知评估与情感唤醒之间的差异。总体而言，与普通人群相比，克兰费尔特男性在感知愤怒面部表情等社会情感线索方面似乎不太准确，他们更难以识别和用言语表达自己的情感，但情感唤醒水平却有所提高。除了描述这种X染色体疾病的社交情感表型外，目前的数据可能会对开发更通用的模型做出重要贡献，这些模型描述了以社会认知障碍为特征的神经精神疾病的发病途径。
