Leiden University, Faculty of Social Sciences, Clinical Child and Adolescent Studies, Wassenaarseweg 52, 2333 AK, Leiden, The Netherlands.
Soc Cogn Affect Neurosci. 2012 Aug;7(6):689-97. doi: 10.1093/scan/nsr041. Epub 2011 Jul 6.
Klinefelter syndrome (KS) is a chromosomal condition (47, XXY) that may help us to unravel gene-brain behavior pathways to psychopathology. The phenotype includes social cognitive impairments and increased risk for autism traits. We used functional MRI to study neural mechanisms underlying social information processing. Eighteen nonclinical controls and thirteen men with XXY were scanned during judgments of faces with regard to trustworthiness and age. While judging faces as untrustworthy in comparison to trustworthy, men with XXY displayed less activation than controls in (i) the amygdala, which plays a key role in screening information for socio-emotional significance, (ii) the insula, which plays a role in subjective emotional experience, as well as (iii) the fusiform gyrus and (iv) the superior temporal sulcus, which are both involved in the perceptual processing of faces and which were also less involved during age judgments in men with XXY. This is the first study showing that KS can be associated with reduced involvement of the neural network subserving social cognition. Studying KS may increase our understanding of the genetic and hormonal basis of neural dysfunctions contributing to abnormalities in social cognition and behavior, which are considered core abnormalities in psychiatric disorders such as autism and schizophrenia.
克莱恩费尔特综合征（KS）是一种染色体疾病（47，XXY），可能有助于我们揭示基因-大脑行为途径与精神病理学之间的关系。该病症的表型包括社会认知障碍和自闭症特征的风险增加。我们使用功能磁共振成像来研究社会信息处理的神经机制。我们对 18 名非临床对照者和 13 名 XXY 男性进行了扫描，让他们判断面部的可信度和年龄。在判断不可信的面部与可信的面部时，与对照组相比，XXY 男性在以下脑区的激活程度较低：（i）杏仁核，在筛选社会情感意义的信息方面发挥关键作用；（ii）脑岛，在主观情感体验中发挥作用；（iii）梭状回；以及（iv）颞上沟，这些脑区都参与了对面部的感知处理，并且在 XXY 男性进行年龄判断时也较少参与。这是第一项表明 KS 可能与社交认知神经网络参与减少有关的研究。研究 KS 可能会增加我们对导致社交认知和行为异常的神经功能障碍的遗传和激素基础的理解，这些异常被认为是自闭症和精神分裂症等精神障碍的核心异常。
