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本质、结构、正常发展和遗传缺陷条件下的破坏。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和相对较少的语言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提出了一个广泛的假设，即大脑的背流功能——其中许多是顶叶功能——在威廉姆斯综合征中受到损害。该模式还表明腹侧流功能，如物体识别可能幸免，并且损伤和幸免的结合导致WS的不寻常的空间分布。我们将测试以下假设：WS空间分布(a)反映了多种背顶叶功能的崩溃，包括视觉空间注意力、动作更新和图像转换；(b)反映了物体表征的缺失，一个关键的腹侧流功能；(c)反映了正常发育轨迹早期点的严重延迟或停滞。实验探针将在四个项目中测试这些假设，包括视觉注意、物体表征、视觉手动操作和导航。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分解。后者有望理解如何增强正常空间表征并在缺陷空间表征的基础上进行构建。这项研究将通过增加我们对正常儿童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此类研究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.