在日本，开发并评估了一种用于伴有或不伴有神经症状的戈谢病的患者报告结局测量工具。
Development and evaluation of a patient-reported outcome measure specific for Gaucher disease with or without neurological symptoms in Japan.
机构信息
Division of Child Neurology, Faculty of Medicine, Institute of Neurological Science, Tottori University, Yonago, Japan.
School of Nursing, Faculty of Health Science, Osaka Aoyama University, Osaka, Japan.
出版信息
Orphanet J Rare Dis. 2024 Jan 5;19(1):11. doi: 10.1186/s13023-023-02996-9.
BACKGROUND
Patients with Gaucher disease (GD), a rare lysosomal storage disorder, have reduced health-related quality of life (HRQOL). A patient-reported outcome measure (PROM) for HRQOL developed for type 1 GD (GD1) is not appropriate for patients with neuronopathic GD (nGD) types 2 (GD2) and 3 (GD3). In this study, we developed a new PROM for use in all GD types. We previously reported the qualitative analysis of interviews with Japanese patients with nGD, which was used to create nGD-specific PROM items. Here we evaluated the full PROM combining the type 1 questionnaire with the new nGD-specific items.
METHODS
Patients with confirmed GD were recruited (Association of Gaucher Disease Patients in Japan or leading doctors) for pre-testing (May 2021) or the main survey (October-December 2021). The PROM had three parts: Parts 1 and 2 were translated into Japanese from the pre-existing GD1 PROM, whereas Part 3 was newly developed. Patients (or their caregivers, where necessary) completed the PROM questionnaire on paper and returned it by mail. Mean scores were determined overall and by GD type. Inter-item correlations, content consistency (Cronbach's alpha), and test-retest reliability (Cohen's kappa; main survey only, taken 2 weeks apart) were calculated.
RESULTS
Sixteen patients (three with GD1; six with GD2; seven with GD3) and 33 patients (nine with GD1; 13 with GD2; 11 with GD3) participated in the pre-test and main survey, respectively. All GD2 patients and one-third (6/18) of GD3 patients required caregivers to complete the questionnaire. Mean scores indicated that the burden was highest in GD2 and lowest in GD1. In the main survey, internal consistency was high (Cronbach's alpha = 0.898 overall, 0.916 for Part 3), and test-retest reliability was high for Part 3 (kappa > 0.60 for 13/16 items) but low for Part 1 (kappa < 0.60 for 12/15 items).
CONCLUSIONS
We have developed a flexible and reliable PROM that can be tailored for use in all types of GD and propose using Parts 1 and 2 for GD1, Parts 2 and 3 for GD2, and Parts 1, 2, and 3 for GD3.
背景
戈谢病（Gaucher disease，GD）是一种罕见的溶酶体贮积症，患者的健康相关生活质量（health-related quality of life，HRQOL）降低。针对 1 型 GD（GD1）开发的患者报告结局测量（patient-reported outcome measure，PROM）不适用于神经病变型 GD（neuronopathic GD，nGD）2 型（GD2）和 3 型（GD3）患者。在这项研究中，我们开发了一种新的 PROM，可用于所有 GD 类型。我们之前报告了对 nGD 日本患者的定性分析，这些分析用于创建 nGD 特异性 PROM 项目。在此，我们评估了将 1 型问卷与新的 nGD 特异性项目相结合的完整 PROM。
方法
招募了确诊 GD 的患者（日本戈谢病患者协会或主治医生）进行预测试（2021 年 5 月）或主要调查（2021 年 10 月至 12 月）。PROM 有三个部分：第 1 部分和第 2 部分是从现有的 GD1 PROM 翻译而来，而第 3 部分是新开发的。患者（或必要时的护理人员）填写纸质 PROM 问卷并通过邮件寄回。总体和按 GD 类型确定平均分数。计算了各项目间的相关性、内容一致性（Cronbach's alpha）和测试-重测信度（Cohen's kappa；仅主要调查，相隔 2 周进行）。
结果
16 名患者（3 名 GD1；6 名 GD2；7 名 GD3）和 33 名患者（9 名 GD1；13 名 GD2；11 名 GD3）分别参加了预测试和主要调查。所有 GD2 患者中有三分之一（6/18）和三分之一（6/18）的 GD3 患者需要护理人员来完成问卷。平均分数表明，GD2 的负担最高，GD1 的负担最低。在主要调查中，内部一致性很高（总体 Cronbach's alpha=0.898，第 3 部分为 0.916），第 3 部分的测试-重测信度很高（kappa>0.60 的项目有 13/16 个），但第 1 部分的测试-重测信度较低（kappa<0.60 的项目有 12/15 个）。
结论
我们开发了一种灵活且可靠的 PROM，可针对所有类型的 GD 进行定制，并建议使用第 1 部分和第 2 部分用于 GD1，第 2 部分和第 3 部分用于 GD2，第 1 部分、第 2 部分和第 3 部分用于 GD3。
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