WILLIAMS SYNDROME--NEUROCOGNITIVE CHARACTERIZATION

我们的基本目标是理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)是一种基于基因的 表现为精神发育迟缓的神经发育障碍 领域内和领域之间的分离：(A)严重的认知 有缺陷，但显著避免了语言障碍；和(B) 空间认知能力和出色的面部处理能力。这些解离存在于 更高的认知功能使WMS成为研究的一个无价范例 大脑和行为关系以及大脑和行为的映射 基因组的表型。WMS的神经认知特征： 一致性和可变性。这一计划的关键起点 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进行衡量 使WMS与众不同的功能。使用基本的神经认知电池， 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；这将使我们能够 将不同认知功能领域的同现模式联系起来 从认知到大脑，最终到基因组的各个层面。 神经认知分离加工基础的实验研究。使用一个 高度集中的小群体研究的继承，我们调查的基础 在WMS中发现的独特的认知架构。在…的领域内 语言，我们检查特定方面的语法和完整性 语义处理。在基于视觉的功能领域中，我们检查 为极度受损的空间处理提供基础，再加上 在WMS中非常好的面部处理。认知与认知之间的映射 脑部基地。神经生理学、神经形态学和脑的研究 本计划项目中实验室开展的细胞架构学 提示WMS中辅助认知功能的神经系统是 与正常情况不同。我们将应用双向激励分析 大脑与行为的关系，以便阐明神经系统 这是语言和视觉空间功能的基础。作图表型 对WMS的基因分型。我们的最终目标是开始搜索链接 在WMS表型及其相关的变异性和基因组之间。 我们将通过表型属性之间的映射来实现这一目标- -在认知域、大脑功能、大脑结构和 医学表现--和基因缺失的不同模式 7号染色体在我们的WMS人群中表现出来。跨级别的关系 可能会对不对称的遗传基础提供有价值的解释 WMS的神经认知特征。总体而言，我们对此的研究 基于基因的神经发育障碍将提供新的 探索认知的一些中心问题的机会 将认知功能与大脑组织联系起来的神经科学，以及 它们的基因基础。

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.