Mechanisms of Social Engagement in Autism Spectrum Disorders

自闭症谱系障碍的社会参与机制

• 批准号: 7808788
• 负责人: FRED Robert Volkmar
• 金额: $ 244.01万
• 依托单位: YALE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2008
• 资助国家: 美国
• 起止时间: 2008-04-01 至 2013-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7808788
• 关键词: Mechanisms; Social; Engagement; Autism; Spectrum

This application for an Autism Center of Excellence requests five years of support for an interdisciplinary program of research on behavioral, brain and molecular aspects of the autism spectrum disorders (ASD). It builds on longstanding programmatic research focused on early mechanisms of socialization and their disruption in ASD, on their neurodevelopmental implications for brain structure and function, and on genetic and cytogenetic etiologies associated with social disorders. This application consists of 5 projects and 3 cores. Projects I, II, and III focus on the same cohort of 12- to 24-month-old infants with ASD and their outcome at 36- to 48-months of age. Their objectives include quantification of visual scanning behavior in the context of naturalistic social situations, gaze processing, and auditory preferences associated with the acquisition of language and communicative skills. A byproduct of these studies is the development of performance-based screeners for ASD in the second year of life. Project 4 uses MRI to study indices of structural and functional connectivity in a cohort of 10-year-olds who have been followed-up longitudinally since the age of 24 months through our CPEA and STAART grants. Project 5 focuses on the identification of rare genetic variants contributing to ASDs as a means of discovering molecular pathways involved in these disorders. It leverages the exceedingly well characterized cohort of infants recruited under projects I to III, builds upon our groups' recent findings implicating both cytogenetic abnormalities and sequence mutations in Contactin and Contactin associated family of molecules in developmental disorders, and capitalizes on independent results by collaborators at UCLA suggesting increased risk for ASD resulting from a common haplotype in one of these molecules. The 5 projects are integrated and supported through proven governance and communication provided by an Administrative Core. An Assessment Core will ensure well- characterized subjects in our tradition of clinical excellence and methodological rigor. A Data Analytic and Methodology Core will provide ongoing consultation on study design and data analysis, and collaborate on Center-wide data mining and methodological innovations. The Yale ACE addresses several key action items of the NIH Interagency Autism Coordinating Committee, including neuro-developmental markers and screening in infants, function-specific neural circuitry, and genetic causes.

该自闭症卓越中心的申请要求为自闭症谱系障碍（ASD）的行为，大脑和分子方面的研究跨学科研究提供五年的支持。它基于长期的程序化研究，重点是社会化的早期机制及其在ASD中的破坏，对大脑结构和功能的神经发育含义，以及与社会疾病相关的遗传和细胞遗传学病因。该应用程序由5个项目和3个核心组成。项目I，II和III的重点是与ASD的12至24个月大婴儿的同一队列及其在36至48个月大时的结果。他们的目标包括在自然主义社会情况，凝视处理以及与获得语言和交流技能相关的听觉偏好的背景下量化视觉扫描行为。这些研究的副产品是生命第二年的基于绩效的ASD的基于绩效的筛查者的发展。项目4使用MRI来研究10岁的队列中结构和功能连通性的指标，他们自24个月以来通过我们的CPEA和Staart赠款进行了纵向跟进。项目5的重点是鉴定有助于ASD的稀有遗传变异，作为发现这些疾病中涉及的分子途径的一种手段。 It leverages the exceedingly well characterized cohort of infants recruited under projects I to III, builds upon our groups' recent findings implicating both cytogenetic abnormalities and sequence mutations in Contactin and Contactin associated family of molecules in developmental disorders, and capitalizes on independent results by collaborators at UCLA suggesting increased risk for ASD resulting from a common haplotype in one of these molecules.这5个项目通过行政核心提供的可靠治理和沟通来整合和支持。评估核心将确保我们的临床卓越和方法论的传统中有良好的特征主题。数据分析和方法论核心将就研究设计和数据分析进行持续的咨询，并就中心范围的数据挖掘和方法创新进行合作。耶鲁王牌介绍了NIH机构间自闭症协调委员会的几个关键动作项目，包括神经发展标记和婴儿的筛查，功能特定的神经回路和遗传原因。