TreatHSP-QoL的开发与验证：遗传性痉挛性截瘫患者健康相关生活质量的患者报告结果测量法

IF 3.4 2区医学 Q2 GENETICS & HEREDITY

Orphanet Journal of Rare Diseases Pub Date : 2024-01-02 DOI:10.1186/s13023-023-03012-w

Jekaterina Malina, Eva-Maria Huessler, Karl-Heinz Jöckel, Eva Boog-Whiteside, Nicole Jeschonneck, Bernadette Schröder, Rebecca Schüle, Tobias Kühl, Stephan Klebe

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引用次数: 0

摘要

遗传性痉挛性截瘫（HSP）是一种罕见的神经退行性疾病，该病缺乏以患者为中心的特异性验证结果测量方法（PCOM）。我们的目标是开发并验证一种专门针对 HSP 的健康相关生活质量（HRQoL）问卷（"TreatHSP-QoL"），该问卷可用作 PCOM。TreatHSP-QoL的试验项目（45个五级李克特量表项目，每个项目的数值介于0和4之间）是在对54个半结构式访谈进行定性数据分析的基础上开发的，这些访谈是与36名HSP患者和18名护理人员当面进行的。然后通过验证过程将其缩减和修改为 25 个项目。主要验证是通过在线问卷对 242 名 HSP 患者和 56 名护理人员进行的。探索性因子分析确定了五个子域。子域的 Cronbach's alpha 值在 0.57 到 0.85 之间，总分达到 0.85。测试-再测的皮尔逊相关性达到 0.86（95% 置信区间 (CI) [0.79, 0.91]）。与EuroQol-5维度（5级）（EQ-5D-5L）和弗里德雷共济失调评定量表-日常生活活动（FARS-ADL）问卷的皮尔逊相关性在不同的子域之间差异很大，总分分别达到0.53（95% CI [0.42，0.61]）和-0.45（95% CI [- 0.55，- 0.35]）。护理人员与患者反应的皮尔逊相关性介于 0.64 和 0.82 之间，总分达到 0.65（95% CI [0.38，0.81]）。TreatHSP-QoL可作为一种疾病特异性PCOM（即HRQoL测量）用于高质量的临床试验和临床实践，也可作为一种替代问卷。分值在 0 到 100 之间，分值越高代表 HRQoL 越好。与 EQ-5D-5L 和 FARS-ADL 的皮尔逊相关性支持了 HSP 专用 PCOM 的额外价值和需求，而非专用 QoL 评估和专用临床自我评估工具已经存在。总之，研究结果表明，这种以患者为中心的新型 HSP 问卷具有良好的有效性和可靠性。

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Development and validation of TreatHSP-QoL: a patient-reported outcome measure for health-related quality of life in hereditary spastic paraplegia

Hereditary spastic paraplegia (HSP) is a rare neurodegenerative disease that lacks specific and validated patient-centered outcome measures (PCOMs). We aimed to develop and validate a health-related quality of life (HRQoL) questionnaire specific to HSP (“TreatHSP-QoL”) that could be used as a PCOM. The pilot-items of the TreatHSP-QoL (45 five-level Likert scale items, with values per item between 0 and 4) were developed based on a qualitative data analysis of 54 semi-structured interviews, conducted in person with 36 HSP patients and 18 caregivers. It was then reduced and modified through the validation process to 25 items. The main validation was performed using the online questionnaire in 242 HSP patients and 56 caregivers. The exploratory factor analysis defined five subdomains. Cronbach’s alpha ranged from 0.57 to 0.85 for the subdomains and reached 0.85 for the total score. The test–retest Pearson correlation reached 0.86 (95% Confidence Interval (CI) [0.79, 0.91]). Pearson correlations with the EuroQol-5 Dimension (5 levels) (EQ-5D-5L) and Friedreich Ataxia Rating Scale-Activities of Daily Living (FARS-ADL) questionnaires varied strongly among the subdomains, with the total scores reaching 0.53 (95% CI [0.42, 0.61]) and -0.45 (95% CI [− 0.55, − 0.35]), respectively. The caregiver-patient response Pearson correlation ranged between 0.64 and 0.82 for subdomains and reached 0.65 (95% CI [0.38, 0.81]) for the total score. TreatHSP-QoL can be used in high-quality clinical trials and clinical practice as a disease-specific PCOM (i.e., HRQoL measure) and is also applicable as a proxy questionnaire. Score values between 0 and 100 can be reached, where higher value represents better HRQoL. The Pearson correlations to the EQ-5D-5L and FARS-ADL support the additional value and need of HSP-specific PCOM, while non-specific QoL-assessment and specific clinical self-assessment tools already exist. All in all, the results demonstrate good validity and reliability for this new patient-centered questionnaire for HSP.

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来源期刊

Orphanet Journal of Rare Diseases 医学-医学：研究与实验

CiteScore

6.30

自引率

8.10%

发文量

418

审稿时长

4-8 weeks

期刊介绍： Orphanet Journal of Rare Diseases is an open access, peer-reviewed journal that encompasses all aspects of rare diseases and orphan drugs. The journal publishes high-quality reviews on specific rare diseases. In addition, the journal may consider articles on clinical trial outcome reports, either positive or negative, and articles on public health issues in the field of rare diseases and orphan drugs. The journal does not accept case reports.