Family Health After Predictive HD Testing

预测性 HD 测试后的家庭健康

• 批准号: 6455234
• 负责人: JANET K. WILLIAMS
• 金额: $ 36.75万
• 依托单位: UNIVERSITY OF IOWA
• 依托单位国家: 美国
• 财政年份: 2001
• 资助国家: 美国
• 起止时间: 2001-09-30 至 2005-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6455234
• 关键词: Huntington's disease; behavioral /social science research tag; clinical research; coping; emotions; family; functional ability; genetic screening; health behavior; human subject; patient care management

DESCRIPTION (provided by applicant): Predictive testing to identify a mutation in the HD gene in asymptomatic people has been available since 1993. Persons completing testing are at risk for decreased functional health prior to the onset of symptoms of this disease. However, little is known regarding the impact of this knowledge on family members. Understanding of the impact of HD on family members is en important issue for the future implementation of presymptomatic genetic testing of healthy persons. Gene mutations are being identified for other adult-onset, familial, degenerative neurologic disorders. Experience with HD can serve as a model for implementing predictive testing. The purpose of this study is to identify health management concerns and needs of family members of asymptomatic and symptomatic persons with a mutation in the gene for HD. There are 2 specific aims for this study. Specific Aim 1 is to examine the impact of HD on a family member's 1) own emotional and functional health status, 2) perceptions of health problems in the proband, 3) resources/strategies for managing these problems, 4) perceptions of what has and has not been helpful, and 5) perceptions of what services are needed to help family members cope. This will be accomplished in two phases. Phase 1 consists of conducting focus groups with persons who are related to, or identify themselves as family to persons with a HD gene mutation. Focus groups of 6-S people will be piloted in Iowa, and convened in 5 additional sites. Data from the focus groups will be analyzed through content analysis to identify salient themes and key issues. In Phase 2, a survey instrument will be developed and field tested. Specific Aim 2 is to describe the health care needs, management strategies, and needs for health and social services of relatives/significant others in families in which a person has a gene mutation for HD. In Phase 3, the survey will be distributed to family members of all persons who enroll in the PREDICT-HD study and persons from these sites with HD who are symptomatic. These individuals will be recruited from the participants enrolled in the 20-site Neurobiological Predictors of HD (PREDICT-HD) ROI NS40068 study whose purpose is to determine the progressive changes in caudate and putamen volume, basal ganglia dopamine D2 receptors, and determine progressive cognitive and behavioral changes in persons with CAG expansions in the HD gene. Frequencies and comparisons of survey responses according to respondent characteristics will be reported. This study will document the health care needs of family members of persons who receive a positive result from presymptomatic gene testing for an inherited degenerative neurologic disease.

描述（由申请人提供）：预测性测试以识别突变 自1993年以来，在无症状人士的高清基因中就可以使用。 完成测试的风险有降低功能健康 这种疾病的症状发作。但是，关于 这种知识对家庭成员的影响。了解高清的影响 关于家庭成员是未来实施的重要问题 健康人的症状性基因检测。基因突变正在 用于其他成人，家族性，退化性神经系统疾病。 拥有高清的经验可以作为实施预测测试的模型。 这项研究的目的是确定健康管理问题和需求 无症状和有症状的人的家庭成员 高清基因。这项研究有2个具体目标。具体目标1是 检查高清对家庭成员的影响1）自己的情绪和功能 健康状况，2）对证据中健康问题的看法，3） 管理这些问题的资源/策略，4） 而且没有帮助，5）对需要哪些服务的看法 帮助家庭成员应付。这将分为两个阶段。阶段1 包括与与或相关的人进行焦点小组或 将自己视为HD基因突变的人。焦点小组 在爱荷华州将驾驶6-S的人中，并在其他5个地点召集。数据 将通过内容分析分析焦点小组以识别 重要主题和关键问题。在第2阶段，调查工具将是 开发和现场测试。具体目标2是描述医疗保健 需求，管理策略以及对健康和社会服务的需求 亲戚/重要的家族中有基因突变的家庭 对于高清。在第3阶段，调查将分发给所有人的家庭成员 参加预测高清研究的人和来自HD的这些站点的人 有症状的人。这些人将被参与者招募 参加了HD（预测HD）ROI的20个位点神经生物学预测因子 NS40068研究的目的是确定尾状的渐进变化 和壳质体积，基底神经节多巴胺D2受体，并确定 具有CAG扩展的人的渐进认知和行为变化 高清基因。根据调查响应的频率和比较 受访者的特征将被报告。这项研究将记录 获得积极结果的人的家庭成员的医疗保健需求 从遗传性神经系统遗传性基因测试 疾病。