PRADER-WILLI SYNDROME: GENETICS AND BEHAVIOR

普瑞德威利综合症：遗传学和行为

• 批准号: 2202657
• 负责人: Travis Thompson
• 金额: $ 61.48万
• 依托单位: VANDERBILT UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 1995
• 资助国家: 美国
• 起止时间: 1995-02-01 至 1999-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/2202657
• 关键词: Prader Willi syndrome; behavioral genetics

The overall purposes of the program project are (1) to characterize clinical features of people with Prader-Willi syndrome (PWS), as they relate to chromosomal and DNA-identified typologies; (2) to investigate specific behavioral perceptual, neuroanatomical, neuroendocrine, nutritional and electrophysiological features which may distinguish genetic/chromosomal subtypes of PWS; and (3) to test several neurochemical hypotheses concerning mechanisms underlying food motivation in PWS, while treating people with PWS neuropharmacologically. Fifty subjects with PWS will be recruited over a 5-year period, 40% of whom will be 12-17 years of age and 60% of whom are 18 years and older. The program project will compare features distinguishing the two major PWS typologies. A battery of psychobehavioral and clinical/laboratory tests will be conducted, including: constructing a genetic map of 15q; cognitive and affective (e.g., personality) assessments; ecobehavioral observations in the natural environment; radiological examination of bone (e.g., for osteoporosis); nutritional, metabolism and sleep assessments; and ophthalmological evaluation. The data from these analyses will be entered into a common data base making it possible to explore patterns of differences and similarities of the foregoing laboratory and clinical tests of persons falling into the two major genetic subcategories of PWS. Four projects will be conducted by investigators focusing on specific sub-issues relevant to the unique features of PWS. These investigators are as follows: Neurobehavioral pharmacology of food motivation in PWS Nutritional and metabolic characterization of PWS Visual perception in PWS Relational learning and food motivation in PWS In addition to the 50 subjects in the four projects, the Psychobehavioral Core will study a group of 20 children less than 12 years of age who will not be part of the rest of the protocol.

该计划项目的总体目的是 (1) 表征 普瑞德威利综合征 (PWS) 患者的临床特征，因为他们 与染色体和 DNA 鉴定的类型学相关； (2) 调查 特定行为知觉、神经解剖学、神经内分泌、 可以区分的营养和电生理特征 PWS 的遗传/染色体亚型； (3) 测试几个 有关食物动机机制的神经化学假设 在 PWS 中，同时对 PWS 患者进行神经药理学治疗。 将在 5 年内招募 50 名患有 PWS 的受试者，其中 40% 他们的年龄为 12-17 岁，其中 60% 为 18 岁及以上。 该计划项目将比较两个主要的特征 PWS 类型。 一系列心理行为和临床/实验室 将进行测试，包括：构建15q的遗传图谱； 认知和情感（例如人格）评估；生态行为 自然环境中的观察；骨放射学检查 （例如，骨质疏松症）；营养、新陈代谢和睡眠评估； 和眼科评估。 这些分析的数据将是 输入到一个公共数据库中，使得探索模式成为可能 上述实验室和临床的异同 对属于 PWS 两个主要遗传亚类的人进行测试。 研究人员将开展四个项目，重点关注特定领域 与 PWS 独特功能相关的子问题。 这些调查人员 如下： PWS 食物动机的神经行为药理学 PWS 的营养和代谢特征 PWS 中的视觉感知 PWS 中的关系学习和食物动机 除了四个项目中的 50 个科目外，心理行为 Core 将研究一组由 20 名 12 岁以下儿童组成的小组，他们将 不属于协议其余部分的一部分。