Neurocognitive Characterization of Williams Syndrome

威廉姆斯综合征(WS)患者有一种不寻常的认知特征，其特征是视觉空间加工缺陷，但在面部加工、语言和超社交能力方面具有优势。项目V试图通过实现以下具体目标来了解WS的认知过程：目标1-WS认知表型的表征和扩展：我们将继续实施我们的成功战略，对WS组、正常对照组和非特异性智力低下个人实施一套核心的标准化认知功能测量方法。我们的核心单元为将认知与其大脑和基因基础联系起来的跨层次分析提供了基础，并特别关注 具有特殊缺失和不同父母血统的个体。目的2-了解WS的神经认知分离的加工基础。基于我们最新的工作，并融合项目间的信息，我们确定了三个相互关联的领域，我们认为这三个领域代表了理解WS认知过程的最佳潜力：a)空间缺陷。实验集中在背腹和后/前加工梯度，包括通过研究听觉定位和听觉-视觉感觉整合来研究上模式空间缺陷的新研究，b)面部加工.q强度。实验将有助于阐明WS中这种相对强度的性质，强调早期视觉加工影响、特定于面孔的加工策略和自上而下的加工影响，c)从属关系： 情感和同理心。研究将在与项目II和项目III的协调研究中调查语言和影响加工。目标3-将认知表型映射到其神经和遗传基础。这一目标是通过协调设计跨项目I-V的研究来实现的。所有项目的最新进展导致了针对相同假设的紧密结合的研究，这将为我们提供一个前所未有的机会，以增加我们对WS认知的神经和遗传基础的理解。总结。这一更新测试了令人兴奋的新假说，将遗传学(例如印迹和缺失大小)和神经系统(例如细胞大小和密度、杏仁核过度活动和增大等)与WS的认知表型联系起来。

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.