Quality of instruments assessing activity and participation of people with muscular dystrophy: A systematic review of participant‐reported outcome measures

Abstract

Aim To identify the standardized assessment scales for people with muscular dystrophy and investigate the quality/level of evidence of their measurement properties. Method A systematic review of patient‐reported outcome measures was conducted on the MEDLINE, Embase, AMED, DiTA, and PsycINFO databases in August 2020. We included psychometric studies that investigated the validity, reliability, and responsiveness of instruments assessing activity and participation for muscular dystrophy of any type (Duchenne, Becker, limb‐girdle, facioscapulohumeral, congenital, and myotonic) or age. Two independent reviewers selected the studies, extracted data, and evaluated the instruments' quality and level of evidence following the COnsensus‐based Standards for the selection of health status Measurement INstruments (COSMIN) checklist. The study followed the Preferred Reporting Items for Systematic reviews and Meta‐Analysis (PRISMA) 2020 guidelines. Results The searches identified 6675 references; a total of 46 studies with 28 condition‐specific or general instruments were included. The measurement properties of most instruments had sufficient (68.8%) or indeterminate (25.7%) results according to COSMIN. The quality of evidence of the measurement properties was moderate (23.8%) or low (22.6%) according to the Grading of Recommendations Assessment, Development, and Evaluation (GRADE). Interpretation There is a lack of high‐quality instruments whose psychometric properties are adequately measured. The highest quality instrument is the Muscular Dystrophy Functional Rating Scale. The Motor Function Measure (general instrument), Duchenne Muscular Dystrophy Upper‐limb Patient‐reported Outcome Measure, North Star Ambulatory Assessment, and Myotonic Dystrophy Type 1 Activity and Participation Scale for Clinical Use (specific) are also recommended. What this paper adds There are 28 available instruments for activity and participation of people with muscular dystrophy. The evidence quality is moderate or low because of imprecision and indirectness. The Muscular Dystrophy Functional Rating Scale is the highest quality instrument. The Motor Function Measure is the second most recommended instrument. The Duchenne Muscular Dystrophy Upper‐limb Patient‐reported Outcome Measure, North Star Ambulatory Assessment, and Myotonic Dystrophy Type 1 Activity and Participation Scale for Clinical Use are also recommended.

Rasch analysis of the 32-item motor function measure in ambulant patients with Duchenne muscular dystrophy

“…This study, for the first time, used Rasch analysis to evaluate psychometric properties of the Motor Function Measure in a sample of ambulant patients with Duchenne muscular dystrophy. 25 The preliminary findings supported that the Motor Function Measure domain D1 was a reliable and valid measure in our sample. In the cases of problematic items, the issues were minor and could be resolved empirically or as appropriate through reconstruction.…”

Psychometric Characteristics of the Motor Function Measure in Neuromuscular Diseases: A Systematic Review1

“…Five studies (4 very good methodological studies and 1 doubtful methodological study) calculated Cronbach's alpha for MFM's subscales [7,8,[19][20][21]. (11) Significant correlations between MFM32 and MFM20 total and subscales and other validated motor function scales (Brooke, Vignos),and between MFM32 and VAS (visual analog scales for severity of disability), Clinician global impression in all NMD.…”

“…Since MFM32's initial publication in 2005, many validation and natural history studies in adult and pediatric diverse populations have been published. As recent as 2022 Andrade et al [11] recommended the use of the MFM as a valid, standardized tool for the assessment of activity in muscular dystrophy. While the MFM was initially validated in a diverse NMD population, recent publications took interest in its validation properties in specific populations, such as SMA and DMD.…”

The congenital muscular dystrophies

“…Adrenal insufficiency, thyroid dysfunction, and vitamin D disorders have been documented, as have convulsions, depression, and anxiety caused by the underlying disease. [1][2][3]8,14,[83][84][85]…”

“…Pressure sores may develop in individuals with reduced mobility due to joint contractions and muscle weakness. Adrenal insufficiency, thyroid dysfunction, and vitamin D disorders have been documented, as have convulsions, depression, and anxiety caused by the underlying disease 1–3,8,14,83–85 …”