Validation of the HD-HRQOL (Huntington disease quality of life measure)

描述（由申请人提供）：NIH共同基金认识到“迫切需要更好地量化临床重要症状和结果，包括疼痛、疲劳和生活质量。”美国国立卫生研究院共同基金（NIH Common Fund）发起了数量空前的大规模倡议，开发与健康相关的生活质量（HRQOL）的患者报告结果（pro），用于：1)普通人群（由NIH资助）；2)成人癫痫、中风、肌萎缩侧索硬化症、多发性硬化症和帕金森病（由NINDS资助）；3)脊髓损伤（由NCMRR和NINDS资助）；4)创伤性脑损伤（由NIDRR和VA RR&D资助）。最近，NINDS扩大了这些测量发展的努力，包括亨廷顿病（HD）——一种致命的、潜伏的、进行性神经退行性疾病，以运动、认知和精神功能异常为特征。HD是最具破坏性的神经系统疾病之一，随着症状逐渐出现和恶化，最终导致死亡。开发一种特定于HD的测量方法，称为“HD- QOL”，复制了最先进的定性方法（在上述pro项目中使用），以确定HD中相关的HRQOL领域/主题，并开发反映这些领域/主题的项目。焦点小组由患有或有患HD风险的个人、家庭成员和照顾者以及HD专业人员组成，以确定与HD患者相关的HRQOL问题。研究结果表明，HD患者面临着各种各样的问题（情感、身体、社会、认知和生命终结）。具体来说，研究结果表明，虽然新PROs测量的许多结构在这一人群中是相关的和重要的，但也需要评估这些现有测量系统尚未捕获的hd特异性HRQOL问题（即生命终结问题、舞蹈、语言和吞咽困难）。因此，反映这些hd特定结构的项目被开发出来，以补充先前存在的PRO计划。建议的项目将在不同的HD患者样本中验证HD- qol和其他相关的新开发的pro。具体而言，将采用最先进的方法，采用经典和现代的测试构建和验证方法——包括项目反应理论和计算机化自适应测试技术——开发一种计算机化自适应测试，允许对临床相关症状和功能限制进行简短而精确的测量。此外，本研究将检验这些措施的敏感性和响应能力随时间的变化。这种新的HD- qol测量系统将允许临床医生通过检测HD HRQOL结果的微小但重要的变化来监测患者，允许研究人员进行更有效的HD临床试验（高灵敏度的测量方法需要更少的研究参与者），并允许患者更有效地与他们的提供者沟通他们对HRQOL的关注。

DESCRIPTION (provided by applicant): The NIH Common Fund recognizes a "pressing need to better quantify clinically important symptoms and outcomes, including pain, fatigue, and quality of life." The NIH Common Fund has led to an unprecedented number of large-scale initiatives to develop patient reported outcomes (PROs) for health-related quality of life (HRQOL) for use in: 1) the general population (funded by NIH); 2) adult epilepsy, stroke, amyotrophic lateral sclerosis, multiple sclerosis, and Parkinson's disease (funded by NINDS); 3) spinal cord injury (funded by NCMRR and NINDS); and 4) traumatic brain injury (funded by NIDRR and the VA RR&D). More recently, the NINDS has extended these measurement development efforts to include Huntington disease (HD)-a fatal, insidious, progressive neurodegenerative disease characterized by abnormalities in motor, cognitive, and psychiatric functions. HD is one of the more devastating neurological diseases, as symptoms gradually appear and worsen until eventually causing death. The effort to develop an HD-specific measure, called the "HD- QOL," replicated state-of-the art qualitative methodology (utilized in the aforementioned PROs projects) to identify relevant HRQOL domains/themes in HD and develop items that reflect these domains/themes. Focus groups consisting of individuals with or at-risk for HD, family members and caregivers, and HD professionals were conducted to identify issues of HRQOL that were relevant for individuals with HD. Findings indicated the diverse issues (emotional, physical, social, cognitive and end of life) that confront individuals with HD. Specifically, findings demonstrated that while many of the constructs measured by the new PROs are relevant and important in this population, there is also a need for assessment of HD-specific HRQOL issues that are not already captured by these existing measurement systems (i.e., end of life issues, chorea, and speech and swallowing difficulties). As a result, items reflecting these HD-specific constructs were developed to complement the preexisting PRO initiatives. The proposed project will validate the HD-QOL and other relevant, newly developed PROs in a diverse sample of individuals with HD. Specifically, a state-of-the-art approach employing both classical and contemporary methods of test construction and validation - including Item Response Theory and computerized adaptive testing technology - will be used to develop a computerized adaptive test that permits brief and precise measurement of clinically relevant symptoms and functional limitations. In addition, this study will examine these measures' sensitivity and responsiveness to change over time. This new HD-QOL measurement system will allow clinicians to monitor patients by detecting small but important changes in HD HRQOL outcomes, allow researchers to conduct more efficient HD clinical trials (highly sensitive measures require fewer study participants), and allow patients to more effectively communicate their HRQOL concerns to their providers.