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刻画威廉姆斯综合征焦虑、社交和认知表型之间的关联与分离。

Characterizing associations and dissociations between anxiety, social, and cognitive phenotypes of Williams syndrome.

作者信息

Ng Rowena, Järvinen Anna, Bellugi Ursula

机构信息

Laboratory for Cognitive Neuroscience, Salk Institute for Biological Studies, USA; University of Minnesota, Twin Cities, Institute of Child Development, USA.

Laboratory for Cognitive Neuroscience, Salk Institute for Biological Studies, USA.

出版信息

Res Dev Disabil. 2014 Oct;35(10):2403-15. doi: 10.1016/j.ridd.2014.06.010. Epub 2014 Jun 26.

Abstract

Williams syndrome (WS) is a neurogenetic disorder known for its "hypersocial" phenotype and a complex profile of anxieties. The anxieties are poorly understood specifically in relation to the social-emotional and cognitive profiles. To address this gap, we employed a Wechsler intelligence test, the Brief Symptom Inventory, Beck Anxiety Inventory, and Salk Institute Sociability Questionnaire, to (1) examine how anxiety symptoms distinguish individuals with WS from typically developing (TD) individuals; and (2) assess the associations between three key phenotypic features of WS: intellectual impairment, social-emotional functioning, and anxiety. The results highlighted intensified neurophysiological symptoms and subjective experiences of anxiety in WS. Moreover, whereas higher cognitive ability was positively associated with anxiety in WS, the opposite pattern characterized the TD individuals. This study provides novel insight into how the three core phenotypic features associate/dissociate in WS, specifically in terms of the contribution of cognitive and emotional functioning to anxiety symptoms.

摘要

威廉姆斯综合征(WS)是一种神经遗传性疾病,以其“高度社交”的表型和复杂的焦虑症状而闻名。人们对这些焦虑症状与社会情感和认知特征之间的具体关系了解甚少。为了填补这一空白,我们采用了韦氏智力测验、简明症状量表、贝克焦虑量表和索尔克研究所社交能力问卷,来(1)研究焦虑症状如何区分威廉姆斯综合征患者与正常发育(TD)个体;以及(2)评估威廉姆斯综合征三个关键表型特征之间的关联:智力障碍、社会情感功能和焦虑。结果突出了威廉姆斯综合征患者神经生理症状的加剧和焦虑的主观体验。此外,虽然较高的认知能力与威廉姆斯综合征患者的焦虑呈正相关,但在正常发育个体中则呈现相反的模式。本研究为威廉姆斯综合征中三个核心表型特征如何关联/分离提供了新的见解,特别是在认知和情感功能对焦虑症状的影响方面。

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