Neurocognitive Characterization of Williams Syndrome

患有威廉姆斯综合征（WS）的个体具有不寻常的认知特征，其特征是视觉空间处理缺陷，但在面部处理、语言和过度社交方面具有优势。项目V旨在通过实现以下具体目标来了解WS的认知处理：目标1-WS认知表型的表征和扩展：我们将继续我们成功的策略，即管理WS，正常对照组和非特异性精神发育迟滞个体的认知功能标准化措施的核心电池。我们的核心电池提供了跨层次分析的基础，将认知与其大脑和遗传基础联系起来，特别关注 具有特殊缺失和不同来源的亲本的个体。目标2 -理解WS中神经认知分离的处理基础。基于我们最新的工作，并在项目中收集信息，我们已经确定了三个相互关联的领域，我们认为这些领域具有理解WS认知过程的最佳潜力：a）空间缺陷。实验重点关注背腹侧和后/前处理梯度，包括通过研究听觉定位和听觉-视觉感觉整合对超模态空间缺陷的新研究，B）面部处理。q强度。实验将有助于澄清WS中这种相对强度的性质，强调早期视觉处理的影响，面部特定的处理策略和自上而下的处理影响。 Lan.qua.qe，情感和同理心。研究将调查语言和影响与项目II和III的协调研究处理。目标3 -认知表型映射到其神经和遗传基础。这一目标是通过项目I-V研究的协调设计实现的。所有项目的最新进展导致了针对相同假设的紧密集成研究，这将为我们增加对WS认知的神经和遗传基础的理解提供前所未有的机会。这一更新测试了令人兴奋的新假设，这些假设将遗传学联系起来（例如，印记和缺失大小）和神经系统（例如，细胞大小和密度、杏仁核过度活跃和增大等）与WS认知表型的关系。

Individuals with Williams syndrome (WS) have an unusual cognitive profile characterized by visuospatial processing deficits but strengths in face processing, language, and hypersociability. Project V seeks to understand the cognitive processing of WS through the achievement of the following specific aims: Aim 1- Characterization and Expansion of the WS Cognitive Phenotype: We will continue in our successful strategy of administering a core battery of standardized measures of cognitive functioning to groups of WS, normal controls, and individuals with non-specific mental retardation. Our core battery provides the basis for cross-level analyses linking cognition to its cerebral and genetic underpinnings, with special attention paid to individuals with special deletions and differing parent of origin. Aim 2 - Understanding the Processing Bases of Neurocognitive Dissociations in WS. Based on our latest work, and converging information across projects, we have identified three interrelated domains that we believe present the optimal potential for understanding WS cognitive processes: a) Spatial Deficit. Experiments focus on dorsoventral and posterior/anterior processing gradients, including a new investigation of a supramodal spatial deficit by studying auditory localization and auditory-visual sensory integration, b) Face Processin.q Strength. Experiments will help clarify the nature of this relative strength in WS, emphasizing early visual processing influences, face-specific processing strategies, and top-down processing influences, c) Affiliation: Lan.qua.qe, Affect and Empathy. Studies will investigate language and affect processing in coordinated studies with Projects II and III. Aim 3 - Mapping the Cognitive Phenotype to its Neural and Genetic Bases. This Aim is achieved through the coordinated design of studies across Projects I-V. Recent advances across all projects have led to tightly integrated studies addressing identical hypotheses that will provide an unprecedented opportunity for increasing our understanding of the neural and genetic bases of cognition in WS. Summary. This renewal tests exciting new hypotheses linking genetics (e.g., imprinting and deletion size) and neural systems (e.g., cell size and density, overactivity and enlargement of amygdala, etc) to the cognitive phenotype of WS.