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特纳综合征患者的眼动追踪与恐惧识别缺陷

Eye tracking and fear recognition deficits in Turner syndrome.

作者信息

Mazzola Francesca, Seigal Anna, MacAskill Andrew, Corden Ben, Lawrence Kate, Skuse David H

机构信息

Institute of Child Health, London, UK.

出版信息

Soc Neurosci. 2006;1(3-4):259-69. doi: 10.1080/17470910600989912.

Abstract

Turner syndrome (TS) is a chromosomal disorder of X-monosomy in females. A minority have impaired social responsiveness, poor discrimination of facial emotions (especially fear), and abnormal amygdala-cortical connectivity. We tested the hypothesis that abnormal gaze fixation, especially with the eye region of faces, would be associated with these features, in a similar pattern to that seen in subjects with autism. Furthermore, since these features tend to be more striking in TS women whose X chromosome is maternal in origin, we also predicted that there may be a difference within the Turner's group according to parental origin of the single X. Adults with 45,X karyotype and age and IQ matched 46,XX women were recruited and tested. Facial fear recognition was significantly worse in 45,X females than controls, but there were no group differences according to parental origin of their single X chromosome. Subsequently, we tested 45,X and 46,XX women using a remote eye-tracking device, as they viewed photographs of emotional human faces. Striking differences in scanpaths were found between the TS and controls, and within the TS group, but not according to parental origin of the X chromosome. These findings provide novel evidence for abnormal face processing in some women with TS, and indicate a potential neural mechanism underlying the difficulties in some key aspects of social cognition.

摘要

特纳综合征(TS)是一种女性X单体型染色体疾病。少数患者存在社交反应受损、对面部情绪(尤其是恐惧)辨别能力差以及杏仁核 - 皮质连接异常的情况。我们检验了这样一种假设:异常的注视固定,尤其是对面部眼部区域的注视固定,会与这些特征相关联,其模式类似于在自闭症患者中所观察到的。此外,由于这些特征在X染色体源自母亲的TS女性中往往更为显著,我们还预测在特纳综合征组内,根据单一X染色体的亲本来源可能会存在差异。招募了具有45,X核型的成年人以及年龄和智商匹配的46,XX女性并进行测试。45,X女性的面部恐惧识别能力明显比对照组差,但根据其单一X染色体的亲本来源,两组之间没有差异。随后,当45,X和46,XX女性观看情绪化人脸照片时,我们使用远程眼动追踪设备对她们进行了测试。在TS组和对照组之间以及TS组内部发现了扫描路径的显著差异,但与X染色体的亲本来源无关。这些发现为一些TS女性存在异常的面部处理提供了新证据,并表明了社会认知某些关键方面困难背后的潜在神经机制。

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