The neurocognitive profile of Williams syndrome: A complex pattern of strengths and weaknesses
The neurocognitive profile of Williams syndrome: A complex pattern of strengths and weaknesses
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DOI：
10.1162/089892900561959
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发表时间：
2000-01-01
影响因子：
3.2
通讯作者：
St George, M
中科院分区：
文献类型：
--
作者：
Bellugi, U;Lichtenberger, L;St George, M
威廉姆斯综合征（WMS）是一种罕见的遗传性疾病，它产生了一系列独特的认知、神经解剖和电生理特征，我们通过一系列的研究来探讨这些特征。在本文中，我们主要关注WMS的认知特征，并开始在这些特征、大脑和疾病的遗传基础之间建立联系。WMS患者的独特认知特征包括语言和面部处理的相对优势以及空间认知的严重障碍。的认知能力，包括什么是“典型的”个人与WMS进行了讨论，但我们也强调了整个群体的个人与WMS，我们已经研究的变化领域。虽然WMS患者的整体认知能力（IQ）通常处于轻度至中度精神发育迟滞的范围内，但不同认知领域内的峰值和谷值使这种综合征特别值得研究。了解高级认知功能的大脑基础（以及最终的遗传基础）是我们开始进行这一跨学科研究的目标。
The rare, genetically based disorder, Williams syndrome (WMS), produces a constellation of distinctive cognitive, neuroanatomical, and electrophysiological features which we explore through the series of studies reported here. In this paper, we focus primarily on the cognitive characteristics of WMS and begin to forge links among these characteristics, the brain, and the genetic basis of the disorder. The distinctive cognitive profile of individuals with WMS includes relative strengths in language and facial processing and profound impairment in spatial cognition. The cognitive profile of abilities, including what is 'typical' for individuals with WMS is discussed, but we also highlight areas of variability across the group of individuals with WMS that we have studied. Although the overall cognitive abilities (IQs) of individuals with WMS are typically in the mild-to-moderate range of mental retardation, the peaks and valleys within different cognitive domains make this syndrome especially intriguing to study across levels. Understanding the brain basis (and ultimately the genetic basis) for higher cognitive functioning is the goal we have begun to undertake with this line of interdisciplinary research.