Spatial Representation in Williams Syndrome

描述（由申请人提供）：本研究的中心目标是了解空间表征的性质，其结构，正常发育和遗传缺陷条件下的故障。这一目标将通过研究患有威廉姆斯综合征（WS）的儿童和成人的空间表征来实现，WS是一种罕见的遗传缺陷，导致严重的空间缺陷与相对备用的语言相结合的不寻常的认知特征。患有WS的人通常在视觉构建任务中表现出严重的缺陷。然而，他们在识别物体、处理视觉运动和谈论空间方面表现出了多余的能力。这种不寻常的缺陷和保留模式表明了一个广泛的假设，即脑的背流功能，其中许多是顶叶功能，在威廉姆斯综合征中受损。该模式还表明，腹侧流功能，如物体识别可能是幸免的，并且损伤和幸免的组合导致WS的不寻常的空间轮廓。我们将测试以下假设：WS空间轮廓（a）反映了多个背顶叶功能的故障，包括视觉空间注意，动作更新和想象转换，（B）反映了物体表征的幸免，关键的腹侧流功能，以及（c）反映了沿着正常发育轨迹沿着早期点的严重延迟或停滞。实验探测器将在4个项目中测试这些假设，这些项目将检查视觉注意力、物体表征、视觉手动动作和导航。这项研究将揭示空间表征的正常结构理论，它是如何在儿童中发展的，以及它在发展过程中的崩溃。后者为理解如何增强正常的空间表征和建立在缺陷的承诺。这项研究将通过增加我们对正常和受损儿童空间系统如何发展的理解产生广泛的影响。这种理解可以为依赖这种研究来制定干预措施的应用社区提供见解。

DESCRIPTION (provided by applicant): The central goal of this research is to understand the nature of spatial representations, its structure, normal development, and breakdown under conditions of genetic deficit. This goal will be accomplished by studying spatial representations in children and adults with Williams syndrome (WS)~ a rare genetic defect which gives rise to an unusual cognitive profile of severe spatial deficit coupled with relatively spared language. People with WS typically show severe deficits in visual construction tasks. Yet they show spared capacities to recognize objects, process visual motion, and talk about space. This unusual pattern of deficit and sparing suggests the broad hypothesis that dorsal stream functions of the brainmany of them parietal functions- are damaged in Williams syndrome. The pattern also suggests that ventral stream functions, such as object recognition may be spared, and that the combination of damage and sparing leads to the unusual spatial profile of WS. We will test the hypotheses that the WS spatial profile (a) reflects breakdown in multiple dorsal-parietal functions, including visual-spatial attention, updating for action, and imaginal transformations, (b) reflects sparing of object representation, a key ventral stream function, and (c) reflects severe delay or arrest at an early point along the normal developmental trajectory. Experimental probes will test these hypotheses in 4 projects examining visual attention, object representation, visual-manual action, and navigation. This research will shed light on theories of the normal architecture of spatial representation, how it develops in children, and its breakdown during development. The latter holds promise for understanding how to enhance normal spatial representations and build upon deficient ones. The research will have broad impact by increasing our understanding of how spatial systems develop in normal and impaired children. This understanding can afford insights to the applied community which depends on such research to develop interventions.