Project 5: Characterization of Social Phenotype

项目 5：社会表型的表征

• 批准号: 8625794
• 负责人: URSULA BELLUGI
• 金额: $ 14.38万
• 依托单位: UNIVERSITY OF UTAH
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/8625794
• 关键词: Adopted; Affect; Affective; Amygdaloid structure; Anterior; Area; Autistic Disorder; Behavior; Behavioral; Brain; Characteristics; Cognition; Cognitive; Data; Development; Dimensions; Dissociation; Electrophysiology (science); Emotional; Emotional disorder; Emotions; Empathy; Employee Strikes; Event-Related Potentials; Exhibits; Eye; Eye Movements; Face; Friends; Functional disorder; Genes; Genetic; Goals; Human; Hypothalamic structure; Individual; Instruction; Insula of Reil; Intelligence; Knowledge; Label; Link; Maps; Measures; Medial; Methods; Mission; Modeling; Motivation; National Institute of Child Health and Human Development; Nature; Neurobiology; Ocular orbit; Pathway interactions; Patient Self-Report; Pattern; Perception; Peripheral; Phenotype; Population; Prefrontal Cortex; Problem behavior; Process; Questionnaires; Relative (related person); Reporting; Research; Social Behavior; Social Behavior Disorders; Social Development; Social Functioning; Social Interaction; Stimulus; Structure of superior temporal sulcus; Syndrome; System; Targeted Research; Techniques; Testing; Therapeutic; Time; Williams Syndrome; Work; base; brain behavior; design; endophenotype; face perception; frontal lobe; fusiform face area; gaze; informant; innovation; interest; mirror neuron system; neural circuit; neurogenetics; novel; relating to nervous system; research study; response; sample fixation; social

One of the most compelling features of Williams syndrome (WS) is the distinctive social profile that holds promise for understanding the underlying neurogenetic systems that provide meaning to human social interaction. Our studies to date suggest that while individuals with WS typically demonstrate an increased appetitive social drive, the social profile is characterized by dissociations (e.g., overly-friendly with a difficulty in making friends; socially fearless but anxious; positive affect with maladaptive behaviors). The aims of Project V focus on the characterization of the social phenotype of WS, enabling links to the genetic and neurobiological pathways of these "dissociations". To this end, the Specific Aims are: Aim 1: Insatiable Appetitive Drive for Approaching Strangers will examine the underpinnings and variability of the increased attraction and approachability towards unfamiliar people observed in individuals with WS. Aim 2: The Unique Salience of Faces will elucidate the nature and underlying mechanisms of the atypically high interest in faces in WS, and its relation to the resultant "hypersocial" phenotype. Aim 3: Unusual Emotional Sensitivity will investigate both (a) the perception and processing of affect of others by those with WS, and (b) the overall affective style of individuals with WS. Using a multi-method design reflecting multiple levels of explanation (electrophysiology, autonomic function, and eye fixation). Project V studies will produce highly nuanced, quantifiable and independent key dimensions of the unique social behavior characteristic of WS. From a theoretical standpoint, a major thrust of the proposed work is to disentangle the processing of key components of social interaction and their respective underpinnings in the context of the enigmatic, yet paradoxical, WS social phenotype, with the ultimate goal of characterizing the complete system of social behavior and understanding the ways it can break down. Such a multileveled approach has not been previously adopted within this domain of inquiry. Results from these studies will add unique knowledge to our understanding of social behavior, by further defining the pathways implicated in gene-brain-behavior linkages, and are designed to contribute to better-informed treatments.

威廉姆斯综合征（WS）最引人注目的特征之一是独特的社会特征，这为理解为人类社会互动提供意义的潜在神经遗传系统提供了希望。迄今为止，我们的研究表明，虽然WS患者通常表现出食欲社会驱动力增加，但社会概况的特征是解离（例如，过度友好，难以交友;社交恐惧但焦虑;积极影响，适应不良行为）。项目V的目标集中在WS的社会表型的表征，使链接到这些“解离”的遗传和神经生物学途径。为此，具体的目标是：目标1：贪得无厌的食欲驱动接近陌生人将检查的基础和变异性增加的吸引力和可接近性对不熟悉的人观察到的个人与WS。目标2：独特的显着性的面孔将阐明的性质和潜在的机制，在WS中的面孔，其关系到由此产生的“超社会”表型。目标3：不寻常的情感敏感性 研究（a）WS患者对他人情感的感知和处理，以及（B）WS患者的整体情感风格。使用多方法设计，反映多个解释水平（电生理学、自主神经功能和眼睛注视）。项目V研究将产生WS独特的社会行为特征的高度细致入微的，可量化的和独立的关键维度。从理论的角度来看，拟议工作的主要目标是在神秘而矛盾的WS社会表型背景下，解开社会互动的关键组成部分及其各自的基础，其最终目标是描述完整的社会行为系统，并了解它可能崩溃的方式。这种多层次的方法以前没有在这一调查领域中采用过。这些研究的结果将通过进一步定义涉及基因-大脑-行为联系的途径，为我们对社会行为的理解增加独特的知识，并旨在为更好的知情治疗做出贡献。