Neurophysiological Characterization of Williams Syndrome

威廉姆斯综合征的神经生理学特征

• 批准号: 7003875
• 负责人: DEBRA L MILLS
• 金额: $ 8.34万
• 依托单位: SALK INSTITUTE FOR BIOLOGICAL STUDIES
• 依托单位国家: 美国
• 财政年份: 2004
• 资助国家: 美国
• 起止时间: 2004-04-05 至 2009-02-28
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7003875
• 关键词: Williams syndrome; adolescence (12-20); behavioral /social science research tag; brain mapping; electrophysiology; emotions; evoked potentials; gene deletion mutation; gene expression profiling; human subject; memory; neural information processing; neurophysiology; neuropsychological tests; patient oriented research; semantics; sound perception; three dimensional imaging /topography; visual pathways; visual perception; young adult human (21-34)

The goal of this research 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, neurocognitive and genetic profiles as determined in projects I-5, respectively. To this end, event-related potentials (ERPs) will be recorded from 32 channels 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, and 3) the organization of semantic and syntactic processing in auditory sentences. These studies are linked with and depend upon the findings from projects I and III. Behavioral (accuracy and reaction times) and ERP data from these experiments will be compared with behavioral measures from similar paradigms and standardized tests described in Project V. Variability in ERP amplitudes will also be compared with that individual's measurement of brain structure for the specific areas of the brain known to mediate that function (in conjunction with Project III), e.g. variability in the latency amplitude and distribution of ERPs linked to differential activation of the dorsal versus ventral visual streams will be compared with measurements of brain regions known to mediate dorsal versus ventral visual processing. The topography of ERPs linked to visual and emotional processing will be compared with the topography of brain activity in the fMRI studies using the same paradigms. Links between abnormal brain function and genetic profiles (Project I) will be conducted by characterizing patterns of activity typical of individuals with WS 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. More generally, these findings in turn will be elucidated by information regarding histochemical and cytoarchitectonic abnormalities in the WS brain (Project IV).

这项研究的目标是表征威廉姆斯综合症（WS）个体感觉和认知处理的电生理表型，并将这些表型表达的变异性与项目 I 中确定的大脑结构、神经认知和遗传特征的变异性联系起来。分别为 5 个。为此，将从 32 个通道记录事件相关电位 (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的影响相关的大脑活动的时间和地形。和言语陈述性记忆系统，以及3）听觉句子中语义和句法处理的组织。这些研究是相互关联的 并依赖于项目 I 和 III 的研究结果。这些实验的行为（准确性和反应时间）和 ERP 数据将与项目 V 中描述的类似范式和标准化测试的行为测量进行比较。ERP 幅度的变异性还将与个人对特定区域的大脑结构的测量进行比较。已知介导该功能的大脑（与项目 III 结合），例如与背侧和腹侧视觉流的差异激活相关的 ERP 潜伏期幅度和分布的变异性将与已知介导背侧和腹侧视觉处理的大脑区域的测量结果进行比较。与视觉和情感处理相关的 ERP 拓扑将与功能磁共振成像研究中大脑活动的拓扑进行比较 使用相同的范例。异常大脑功能和遗传图谱之间的联系（项目 I）将通过表征具有完全缺失的 WS 个体的典型活动模式，并将这些模式与来自具有不同遗传图谱（例如非典型缺失或亲本起源）的个体的 ERP 进行比较来进行。 WS 的删除。更一般地说，这些发现反过来将通过有关 WS 大脑组织化学和细胞结构异常的信息来阐明（项目 IV）。