Williams Syndrome: Bridging Cognition, Brain and Genes

威廉姆斯综合症：认知、大脑和基因之间的桥梁

• 批准号: 7348480
• 负责人: URSULA BELLUGI
• 金额: $ 4.72万
• 依托单位: SALK INSTITUTE FOR BIOLOGICAL STUDIES
• 依托单位国家: 美国
• 财政年份: 1997
• 资助国家: 美国
• 起止时间: 1997-03-01 至 2009-02-28
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7348480
• 关键词: Adult; Affect; Affective; Age; Age-Years; Auditory; Behavioral; Brain; Charge; Class; Cognition; Cognitive; Collaborations; Color; Color Perception; Comprehension; Condition; Control Groups; Data; Development; Developmental Delay Disorders; Dorsal; Emotional; Emotions; Event-Related Potentials; Face; Face Processing; Facial Expression; Fathers; Foundations; Frequencies; Fright; Functional Magnetic Resonance Imaging; Genes; Genetic; Goals; Human; Human Genome; Individual; Inherited; Language; Link; Longevity; Maps; Measures; Mediating; Medical; Memory; Molecular; Mothers; Motion; Neural Pathways; Neurobiology; Neurocognitive; Numbers; Parents; Pathway interactions; Pattern; Perception; Phenotype; Population; Process; Production; Public Health; Relative (related person); Research; Retrieval; Semantics; Sensory; Stimulus; Stream; Structure; System; Testing; Time; Visual; Visual Pathways; Williams Syndrome; base; cognitive function; density; design; genetic profiling; indexing; language processing; magnocellular; mind control; neural circuit; neuroimaging; neurophysiology; parvocellular; programs; social; syntax; visual process; visual processing; visual stimulus

DESCRIPTION (provided by applicant): This research is an integral and synergistic part of the Program Project: Williams Syndrome: Bridging Cognition, Brain and Genes to link higher cognitive functions with their underlying neurobiological basis and genetic foundations. The goal of this subproject is to characterize the electrophysiological phenotypes of sensory and cognitive processing in individuals with Williams Syndrome (WS) and to link variability in the expression of these phenotypes to variability in brain structure and function (Project III), neurocognitive (Project V), and genetic profiles (Project I). To this end, event-related potentials (ERPs) will be recorded using a high-density ERP system to examine the timing and topography of brain activity linked to 1) differential activation of the dorsal and ventral visual streams, 2) the effects of emotion on processing facial expressions and verbal declarative memory systems, 3) Studies of genetic variability and brain function: atypical deletions and parent of origin. Using similar paradigms across projects behavioral, fMRI and ERP data will be used to develop a cross-disciplinary characterization of the WS phenotype for sensory, cognitive and social emotional processes. Links between abnormal brain function and genetic profiles (Project I) will be conducted by characterizing patterns of activity typical of individuals with WMS with a full deletion and comparing these patterns with ERPs from individuals with different genetic profiles such as atypical deletions or parent of origin of the deletion for WS. The first two years of this project have revealed a number of surprising findings including abnormal patterns of brain activity to visual stimuli in both the magno/dorsal and parvo/ventral pathways. These data in collaboration with fMRI data may help elucidate the underlying mechanisms for atypical patterns of brain organization observed for higher cognitive functions such as langauge and face processing. Other prelimiary findings in collaboration with Project I suggest that atypical language and face processing may be related to parent of origin and interactions with the expression of specific genes. Relation to public health: this research offers promise in furthering our understanding of neurocognitive development in individuals with a specific medical condition, WS, that together with neurophysiological, neuroimaging, genetic, cellular, and molecular studies from other projects, will help us bridge an understanding of cognition and gene within the greater human population.

描述（由申请人提供）：本研究是项目“Williams综合征：桥接认知、大脑和基因”的一个整体和协同部分，旨在将高级认知功能与其潜在的神经生物学基础和遗传基础联系起来。这个子项目的目标是表征威廉姆斯综合征（WS）个体的感觉和认知加工的电生理表型，并将这些表型表达的变异性与大脑结构和功能（项目III）、神经认知（项目V）和遗传谱（项目I）的变异性联系起来。为此，将使用高密度ERP系统记录事件相关电位（ERP），以检查与1)背侧和腹侧视觉流的差异激活，2)情绪对处理面部表情和口头陈述性记忆系统的影响，3)遗传变异和大脑功能研究：非典型缺失和父母起源相关的大脑活动的时间和地形。使用跨项目的类似范例，行为，功能磁共振成像和ERP数据将用于开发WS表型的感觉，认知和社会情绪过程的跨学科表征。异常脑功能和遗传谱之间的联系（项目1）将通过描述完全缺失的WMS个体的典型活动模式，并将这些模式与来自不同遗传谱（如非典型缺失或WS缺失的父母来源）个体的erp进行比较。这个项目的前两年已经揭示了许多令人惊讶的发现，包括脑磁/背通路和脑细小/腹侧通路对视觉刺激的异常活动模式。这些数据与功能磁共振成像（fMRI）数据相结合，可能有助于阐明在语言和面部处理等高级认知功能中观察到的非典型大脑组织模式的潜在机制。与项目1合作的其他初步发现表明，非典型语言和面部加工可能与父母的起源以及与特定基因表达的相互作用有关。与公共卫生的关系：这项研究为我们进一步了解WS患者的神经认知发展提供了希望，它与其他项目的神经生理学、神经影像学、遗传学、细胞和分子研究一起，将帮助我们在更大的人群中架起理解认知和基因的桥梁。