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. 2023 Jan;32(1):225-236.
doi: 10.1007/s11136-022-03240-w. Epub 2022 Sep 1.

A comprehensive qualitative framework for health-related quality of life in Duchenne muscular dystrophy

Philip A Powell  1 , Jill Carlton  2
Affiliations

A comprehensive qualitative framework for health-related quality of life in Duchenne muscular dystrophy

Philip A Powell et al. Qual Life Res. 2023 Jan.

Abstract

Purpose: 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.

Methods: 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.

Results: 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.

Conclusion: 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.

Keywords: Duchenne muscular dystrophy; Health-related quality of life; Patient-reported outcomes; Qualitative research; Rare diseases.

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Conflict of interest statement

P.A. Powell and J. Carlton received research funding from Project HERCULES (via Duchenne UK) to develop a new preference-based patient-reported outcome measure for quality of life in DMD.

Figures

Fig. 1
Fig. 1
Six stages of framework analysis used in the study, adapted from [32]
Fig. 2
Fig. 2
Conceptual mapping between themes in HRQoL framework. Size of arrows represents how often relationship between categories was coded in the qualitative data (after rounding to the nearest 5 and dividing by 5 to approximate a width in pt). Wider arrows represent stronger relationships between categories
See this image and copyright information in PMC

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