A number of developmental disorders of genetic origin show atypical aspects of face processing. However, little is known about face processing in Prader-Willi syndrome (PWS). PWS is of specific interest because it has two modes of inheritance (paternally derived deletion, DEL; maternal uniparental disomy, UPD) only one of which (UPD) is associated with an increased risk of autistic symptomology. We conducted electrophysiological (ERP) and behavioural measurements of face and eye-gaze processing in individuals with PWS derived from both modes of inheritance. Our hypothesis that UPD PWS would show a pattern of deficits resembling those seen in autism was only partially confirmed. Although some individuals from both groups showed deficits, as a whole the UPD group (N=8) and the DEL group (N=8) did not differ on behavioural measures of face processing or autistic symptoms. In contrast, the effect of face orientation and gaze direction on the amplitude of the N170 ERP component differed between the two PWS sub-types. Thus, while the behavioural tests did not discriminate between the UPD and deletion forms of the syndrome, electrophysiological measures of face processing did differentiate the groups.

中文翻译：

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Prader-Willi 综合征中的面部和凝视处理。

许多遗传性发育障碍显示出面部处理的非典型方面。然而，人们对 Prader-Willi 综合征 (PWS) 中的面部处理知之甚少。PWS 具有特殊的意义，因为它有两种遗传模式（父源缺失，DEL；母体单亲二体，UPD），其中只有一种（UPD）与自闭症症状的风险增加有关。我们对来自两种遗传模式的 PWS 个体进行了面部和眼睛凝视处理的电生理 (ERP) 和行为测量。我们的假设只是部分证实了 UPD PWS 会显示出与自闭症相似的缺陷模式。尽管两组中的一些人都表现出缺陷，总的来说，UPD 组（N=8）和 DEL 组（N=8）在面部处理或自闭症症状的行为测量方面没有差异。相比之下，面部方向和凝视方向对 N170 ERP 分量幅度的影响在两种 PWS 亚型之间有所不同。因此，虽然行为测试没有区分 UPD 和缺失形式的综合征，但面部处理的电生理测量确实区分了这些组。