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（由申请方提供）：用于识别突变的预测性检测 自1993年以来，无症状人群中的HD基因已经可用。人 在完成测试之前， 这种疾病的症状发作。然而，人们对它知之甚少。 这些知识对家庭成员的影响。了解HD的影响 对家庭成员的影响是今后执行《公约》的一个重要问题， 健康人的症状前基因检测。基因突变正在 鉴定为其他成人发作的家族性退行性神经系统疾病。 HD的经验可以作为实施预测性测试的模型。 这项研究的目的是确定健康管理的关注和需求 无症状和有症状的人的家庭成员的突变， HD的基因本研究有两个具体目标。具体目标1是 检查HD对家庭成员自身情绪和功能的影响 健康状况，2）先证者对健康问题的看法，3） 管理这些问题的资源/战略，4）对 没有帮助，5）对需要什么服务的看法， 帮助家庭成员科普。这将分两个阶段完成。1期 包括与相关人员进行焦点小组讨论，或 将自己视为HD基因突变患者的家人。焦点小组 将在爱荷华州试点，并在另外5个地点召集6-S人员。数据 将通过内容分析来分析焦点小组， 突出主题和关键问题。在第二阶段，将使用一种调查工具， 开发和实地测试。具体目标2是描述医疗保健 需要、管理战略以及对保健和社会服务的需要 在一个人有基因突变的家庭中的亲属/重要他人 对于HD。在第三阶段，调查将分发给所有受害者的家庭成员， 入组PREDICT-HD研究的患者和来自这些研究中心的HD患者 有症状的人这些人将从参与者中招募 入组20个中心HD神经生物学预测因子（PREDICT-HD）ROI NS 40068研究，其目的是确定尾状核的进行性变化 和壳核体积，基底神经节多巴胺D2受体，并确定 慢性萎缩性胃炎患者的认知和行为变化 HD基因根据《公约》对调查答复的频率和比较 将报告受访者的特征。本研究将记录 结果呈阳性者家庭成员的保健需要 遗传性神经退行性疾病的症状前基因检测 疾病