Abstract
Duchenne muscular dystrophy (DMD) is an inherited X-linked neuromuscular disorder. A number of questionnaires are available to assess quality of life in DMD, but there are concerns about their validity. This systematic review aimed to appraise critically the content and structural validity of quality of life instruments for DMD. Five databases (EMBASE, MEDLINE, CINAHL, PsycINFO, and Cochrane Library) were searched, with supplementary searches in Google Scholar. We included articles with evidence on the content and/or structural validity of quality of life instruments in DMD, and/or instrument development. Evidence was evaluated against the Consensus-based Standards for the selection of health Measurement INstruments (COSMIN) criteria. Fifty five articles featured a questionnaire assessing quality of life in DMD. Forty instruments were extracted and 26 underwent assessment. Forty-one articles contained evidence on content or structural validity (including 37 development papers). Most instruments demonstrated low quality evidence and unsatisfactory or inconsistent validity in DMD, with the majority not featuring direct validation studies in this population. Only KIDSCREEN received an adequate rating for instrument design and a satisfactory result for content validity based on its development, yet, like the majority of PROMs, the measure has not been directly validated for use in DMD. Further research is needed on the validity of quality of life instruments in DMD, including content and structural validity studies in this population.
Highlights
Duchenne muscular dystrophy (DMD) is an X-linked neuromuscular disorder with an estimated incidence of 1 in 3802–6291 live male births [1, 2]
Current clinical efforts are focused on slowing disease progression and improving the health-related quality of life (QoL) of people with DMD, Powell et al Health and Quality of Life Outcomes (2020) 18:263 and health interventions are necessarily evaluated for their cost effectiveness against this objective
Results of search A – patient reported outcome measures (PROMs) used to measure quality of life in DMD After removing duplicates, 1733 records were identified through database searching for Search A
Summary
Duchenne muscular dystrophy (DMD) is an X-linked neuromuscular disorder with an estimated incidence of 1 in 3802–6291 live male births [1, 2]. The disease causes progressive muscle weakness due to an absence of the dystrophin protein, which functions to help keep muscle cells intact. The disease progresses through four recognised clinical stages characterised by increased muscle weakness, impaired ambulation and motor functioning, and cardiovascular and respiratory problems [5]. There is no cure for the disease. Current clinical efforts are focused on slowing disease progression and improving the health-related quality of life (QoL) of people with DMD, Powell et al Health and Quality of Life Outcomes (2020) 18:263 and health interventions are necessarily evaluated for their cost effectiveness against this objective
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