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

描述(由申请者提供)：NIH共同基金认识到“迫切需要更好地量化临床上重要的症状和结果，包括疼痛、疲劳和生活质量。”美国国立卫生研究院共同基金推出了史无前例的大规模活动，以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)；以及4)创伤性脑损伤(由NIDRR和VA RR&D资助)。最近，NINDS将这些测量开发工作扩展到包括亨廷顿病(HD)-一种致命的、潜伏的、进行性神经退行性疾病，其特征是运动、认知和精神功能异常。HD是一种更具破坏性的神经系统疾病，随着症状的逐渐出现和恶化，直到最终导致死亡。开发HD-QOL的工作称为“HD-QOL”，复制了最先进的定性方法(在前述PROS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。由HD患者或有HD风险的个人、家庭成员和照顾者以及HD专业人员组成的焦点小组被用来确定与HD患者相关的HRQOL问题。研究结果表明，患有HD的人面临着各种各样的问题(情感、身体、社交、认知和生命结束)。具体地说，研究结果表明，虽然新的专业人员测量的许多结构在这一人群中是相关和重要的，但也需要评估这些现有测量系统尚未捕捉到的HD特定的HRQOL问题(即生命终结问题、舞蹈病、言语和吞咽困难)。因此，开发了反映这些房屋署特有结构的项目，以补充先前存在的PRO倡议。拟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、新开发的专业人员。具体地说，将使用一种采用经典和当代测试构建和验证方法的最先进方法-包括项目反应理论和计算机化自适应测试技术-开发一种计算机化的自适应测试，允许对临床相关症状和功能限制进行简短和精确的测量。此外，这项研究还将检查这些措施随着时间的推移对变化的敏感性和响应性。这一新的HD-QOL测量系统将允许临床医生通过检测HD HRQOL结果中微小但重要的变化来监控患者，使研究人员能够进行更有效的HD临床试验(高度敏感的措施需要更少的研究参与者)，并允许患者更有效地将他们对HRQOL的担忧传达给他们的提供者。

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.