School of Health and Related Research (ScHARR), University of Sheffield, Regent Court, 30 Regent Street, Sheffield, S1 4DA, UK.
Qual Life Res. 2023 Jan;32(1):225-236. doi: 10.1007/s11136-022-03240-w. Epub 2022 Sep 1.
Duchenne muscular dystrophy (DMD) is a rare x-linked neuromuscular condition predominantly affecting boys and men. There is a paucity of research qualitatively detailing the lived experience of health-related quality of life (HRQoL) for people with DMD. The aim of this study was to identify a comprehensive framework for better understanding HRQoL in DMD.
Eighteen boys and men (aged 7 to ≥ 40 years) with DMD were recruited from charity Duchenne UK, a DMD support group, and 5 UK National Health Service Trusts. Semi-structured interviews were conducted using a topic guide informed by a review into HRQoL in DMD. Generic, preference-based, patient-reported outcome measures (PROs) were used as prompts. Interviews were audio recorded, transcribed verbatim and analysed using framework analysis.
Thirty-seven themes were coded, within seven categories. Six categories were conceptualised as components of HRQoL (autonomy, daily activities, feelings and emotions, identity, physical aspects, social relationships) and one considered an input (healthcare, support, and environment). Three additional themes were used to code feedback on the generic PROs (CHU-9D, EQ-5D, HUI). Social relationships received most coverage in the data and was noted as an omission from the PROs.
A 30-item framework for HRQoL in DMD has been developed, which was used as input into a new condition-specific HRQoL PRO and preference-based measure: the DMD-QoL. The data has value in its own right in highlighting the lived experience of HRQoL for people with DMD and as a barometer for assessing the content of HRQoL PROs for use in DMD.
杜氏肌营养不良症（DMD）是一种罕见的 X 连锁神经肌肉疾病，主要影响男孩和男性。关于 DMD 患者健康相关生活质量（HRQoL）的生活体验，缺乏定性研究。本研究旨在确定一个全面的框架，以更好地理解 DMD 中的 HRQoL。
从慈善机构 Duchenne UK、DMD 支持小组以及 5 家英国国家卫生服务信托机构招募了 18 名患有 DMD 的男孩和男性（年龄 7 至≥40 岁）。使用基于 HRQoL 在 DMD 中的综述的主题指南进行半结构式访谈。使用通用、偏好基础、患者报告的结果测量（PROs）作为提示。对访谈进行录音、逐字转录，并使用框架分析进行分析。
对 37 个主题进行了编码，分为七个类别。六个类别被概念化为 HRQoL 的组成部分（自主性、日常活动、感觉和情绪、身份、身体方面、社会关系），一个类别被认为是一个投入（医疗保健、支持和环境）。三个额外的主题用于对通用 PROs（CHU-9D、EQ-5D、HUI）进行编码反馈。社会关系在数据中得到了最多的报道，并被认为是 PROs 的遗漏。
已经开发了一个用于 DMD 的 30 项 HRQoL 框架，该框架被用作新的特定于 DMD 的 HRQoL PRO 和偏好基础措施：DMD-QoL 的输入。这些数据本身就具有价值，它突出了 DMD 患者的 HRQoL 生活体验，并作为评估用于 DMD 的 HRQoL PRO 内容的基准。
