Family Health After Predictive HD Testing

描述(申请人提供)：用于识别突变的预测性测试 在无症状人群中的HD基因自1993年以来一直存在。人 完成测试之前，功能健康状况有下降的风险 出现这种疾病的症状。然而，人们对此知之甚少 这一知识对家庭成员的影响。了解HD的影响 关于家庭成员的问题是未来实施的一个重要问题 健康人症状前基因检测。基因突变正在被 确诊为其他成人起病、家族性、退行性神经疾病。 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关注的问题和需求 基因突变的无症状和有症状患者的家庭成员 先天性巨结肠的基因。本研究有两个具体目的。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 而且没有帮助，以及对需要什么服务的看法 帮助家庭成员应对。这将分两个阶段完成。阶段1 包括与以下人员有关的焦点小组： 向携带HD基因突变的人表明自己是家人。焦点小组 S的6人将在爱荷华州进行试点，并在另外5个地点召开会议。数据 来自焦点群体的分析将通过内容分析来确定 突出的主题和关键问题。在第二阶段，一项调查工具将是 开发并进行了现场测试。具体目标2是描述医疗保健 卫生和社会服务的需求、管理战略和需求 有基因突变的家庭中的亲属/重要的其他人 用于高清。在第三阶段，调查将分发给所有家庭成员 登记参加Forecast-HD研究的人员以及这些站点中患有HD的人员 有症状的人。这些人将从参与者中招募 登记HD(Forecate-HD)ROI的20个部位神经生物学预测指标 NS40068研究，其目的是确定尾状核的进行性变化 和壳核体积、基底节多巴胺D2受体，并测定 慢性萎缩性胃炎扩张者的进行性认知和行为改变 HD基因。调查答复的频率和比较 应答者的特征将被报告。这项研究将记录 获得阳性结果的人的家庭成员的保健需求 遗传性退行性神经病的症状前基因检测 疾病。

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.