WILLIAMS SYNDROME--NEUROCOGNITIVE CHARACTERIZATION

我们的基本目标是了解语言和其他语言的生物学基础。 认知功能。 威廉姆斯综合征（WMS）是一种基于遗传的 一种涉及智力迟钝的神经发育障碍， 在领域内和跨领域的分离：（a）严重的认知障碍 缺陷，但明显幸免于语言;和（B）极端障碍， 空间认知能力和出色的面部处理能力 这些分离在 更高的认知功能使WMS成为研究的宝贵范式 大脑和行为的关系以及大脑和行为的映射 表型到基因组。 WMS的神经认知表征： 一致性和可变性。 该计划的关键出发点是 项目在于获得每个受试者的认知测量， 在我们现有的不对称认知的背景下， 功能，区别于WMS。 使用基本神经认知电池， 我们描述了在所有WMS中相对稳定的属性 主题以及这些属性的可变性;这将使我们 将认知功能领域的共现模式联系起来， 从认知到大脑，最终到基因组。 神经认知分离加工基础的实验研究。 与 高度集中的小组研究的继承，我们调查的基础 在WMS中发现的独特认知架构。 领域的 语言，我们研究的语法和具体方面的完整性， 语义处理 在视觉功能领域，我们研究了 a为极度受损的空间处理加上 非常好的面部处理能力 认知与认知之间的映射 大脑基地。 神经生理学、神经形态学和脑的研究 由本计划项目中的实验室进行的细胞结构学 表明在WMS中辅助认知功能的神经系统是 不同于正常。 我们将应用双向动机分析 来阐明大脑的神经系统 是语言和视觉空间功能的基础 作图表型 在WMS中进行基因分型。 我们的最终目标是开始搜索链接 WMS表型及其相关变异性与基因组之间的关系。 我们将通过表型属性之间的映射来实现这一目标- - 在认知领域、脑功能、脑结构和 医学表现-和差异模式的缺失， 我们的WMS群体显示了7号染色体。 各级关系 可能会对不对称的遗传基础提供有价值的线索。 WMS的神经认知特征。 总的来说，我们的研究 遗传性神经发育障碍将提供新的 有机会探索认知的一些核心问题， 神经科学将认知功能与大脑组织联系起来， 他们的基因基础。

Our basic goal is to understand the biological bases of language and other cognitive functions. Williams syndrome (WMS) is a genetically-based neurodevelopmental disorder involving mental retardation that displays dissociations both within and across domains: (a) severe cognitive deficits but remarkably spared language; and (b) extreme disorders in spatial cognition but excellent facial processing. These dissociations in higher cognitive functioning make WMS an invaluable paradigm for the study of brain and behavior relationships and the mapping of brain and behavior phenotypes to the genome. Neurocognitive Characterization of WMS: Consistency and Variability. The crucial starting point of this Program Project lies in obtaining cognitive measures of each of the subjects, measured in the context of our existing profile of asymmetric cognitive functioning that distinguishes WMS. Using a Basic Neurocognitive Battery, we characterize the attributes that are relatively stable across all WMS subjects as well as the variability of these attributes; this will allow us to link patterns of co-occurrence across domains of cognitive functioning and across levels from cognition to brain and, ultimately, to the genome. Experiments on Processing Bases of Neurocognitive Dissociations. With a succession of highly focused small group studies, we investigate the basis of the unique cognitive architecture found in WMS. In the domain of language, we examine the integrity of specific aspects of grammatical and semantic processing. In the domain of visual-based functioning, we examine a bases for the extremely impaired spatial processing coupled with the remarkably good facial processing in WMS. Mapping Between Cognition and Brain Bases. Studies of neurophysiology, neuromorphology, and brain cytoarchitectonics conducted by laboratories in this Program Project suggest that neural systems subserving cognitive functions in WMS are different from normal. We will apply bi-directionally motivated analyses of brain-behavior relationships in order to elucidate the neural systems which underlie language and visual-spatial functioning. Mapping phenotype to Genotype in WMS. Our ultimate goal is to begin the search for links between the WMS phenotype, with its associated variability, and the genome. We will pursue this goal through a mapping between phenotypic attributes - - at the levels of cognitive domains, brain function, brain structure, and medical presentation -- and differential patterns of deletion on chromosome 7 manifested by our WMS population. Relationships across levels may shed valuable light on the genetic foundations of the asymmetric neurocognitive profile of WMS. In general, our studies with this genetically-based neurodevelopmental disorder will provide new opportunities to explore some of the central issues of cognitive neuroscience that tie cognitive functions to brain organization, as well as to their genetic bases.