Project 5: Characterization of Social Phenotype

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，它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。到目前为止，我们的研究表明，虽然WS患者通常表现出更强的社交动力，但其社交特征是分离(例如，过于友好，难以交到朋友；社交无畏但焦虑；积极影响适应不良行为)。项目V的目标侧重于描述WS的社会表型，使其能够与这些“分离”的遗传和神经生物学途径相联系。为此，具体目标是：目标1：接近陌生人的贪得无厌的欲望驱动力将考察WS患者对陌生人的吸引力和亲和力增加的基础和变异性。目的2：面孔的独特突显将阐明面孔在WS中的非典型高兴趣性的本质和潜在机制，以及它与由此产生的“超社交”表型的关系。目标3：不同寻常的情感敏感度 调查(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，反映了多层次的解释(电生理学、自主神经功能和眼睛注视)。项目V的研究将产生妇女独特的社会行为特征的高度细微、可量化和独立的关键维度。从理论上讲，这项工作的一个主要目的是在神秘但矛盾的WS社会表型的背景下，理清社会互动的关键组成部分及其各自的基础的处理，最终目的是表征社会行为的完整系统，并了解它可以被分解的方式。这种多层次的方法以前从未在这一调查领域内采用过。这些研究的结果将通过进一步定义基因-大脑-行为联系所涉及的途径，为我们对社会行为的理解增加独特的知识，并旨在为更好地进行知情治疗做出贡献。

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.