Family Health After Predictive HD Testing

预测性 HD 测试后的家庭健康

基本信息

  • 批准号:
    6455234
  • 负责人:
  • 金额:
    $ 36.75万
  • 依托单位:
  • 依托单位国家:
    美国
  • 项目类别:
  • 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

项目摘要

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):识别突变的预测性测试

项目成果

期刊论文数量(0)
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专利数量(0)

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JANET K. WILLIAMS其他文献

JANET K. WILLIAMS的其他文献

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{{ truncateString('JANET K. WILLIAMS', 18)}}的其他基金

Center for Advancing Multimorbidity Science: Profiling risk and symptom expression to develop customized therapies for adults with multiple chronic conditions (CAMS)
促进多发病科学中心:分析风险和症状表达,为患有多种慢性病的成人开发定制疗法 (CAMS)
  • 批准号:
    10416006
  • 财政年份:
    2018
  • 资助金额:
    $ 36.75万
  • 项目类别:
Postdoctoral Training in Clinical Genetics Research
临床遗传学研究博士后培训
  • 批准号:
    8143942
  • 财政年份:
    2010
  • 资助金额:
    $ 36.75万
  • 项目类别:
Postdoctoral Training in Clinical Genetics Research
临床遗传学研究博士后培训
  • 批准号:
    7637410
  • 财政年份:
    2001
  • 资助金额:
    $ 36.75万
  • 项目类别:
Postdoctoral Training in Clinical Genetics Research
临床遗传学研究博士后培训
  • 批准号:
    7067051
  • 财政年份:
    2001
  • 资助金额:
    $ 36.75万
  • 项目类别:
POSTDOCTORAL TRAINING IN CLINICAL GENETICS RESEARCH
临床遗传学研究博士后培训
  • 批准号:
    6640866
  • 财政年份:
    2001
  • 资助金额:
    $ 36.75万
  • 项目类别:
POSTDOCTORAL TRAINING IN CLINICAL GENETICS RESEARCH
临床遗传学研究博士后培训
  • 批准号:
    6539440
  • 财政年份:
    2001
  • 资助金额:
    $ 36.75万
  • 项目类别:
Postdoctoral Training in Clinical Genetics Research
临床遗传学研究博士后培训
  • 批准号:
    7446787
  • 财政年份:
    2001
  • 资助金额:
    $ 36.75万
  • 项目类别:
Family Health After Predictive HD Testing
预测性 HD 测试后的家庭健康
  • 批准号:
    6771009
  • 财政年份:
    2001
  • 资助金额:
    $ 36.75万
  • 项目类别:
Postdoctoral Training in Clinical Genetics Research
临床遗传学研究博士后培训
  • 批准号:
    7236639
  • 财政年份:
    2001
  • 资助金额:
    $ 36.75万
  • 项目类别:
POSTDOCTORAL TRAINING IN CLINICAL GENETICS RESEARCH
临床遗传学研究博士后培训
  • 批准号:
    6750700
  • 财政年份:
    2001
  • 资助金额:
    $ 36.75万
  • 项目类别:
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