ReviewMeasurement properties and utility of performance-based outcome measures of physical functioning in individuals with facioscapulohumeral dystrophy – A systematic review and evidence synthesis
Introduction
Individuals with facioscapulohumeral dystrophy report altered physical function, such as difficulty lifting objects, impaired walking, reduced balance, and the inability to alter facial expression [4]. Facioscapulohumeral dystrophy, or FSHD, is the third most common of the muscular dystrophies, with an estimated prevalence of 5–13 in 100,000 [5]. It is a slowly progressive condition with an often asymmetrical [6], heterogeneous presentation and variable severity even between affected individuals within the same family [6], [7]. Risk of functional impairment is linked to age of symptom onset and underlying genetic factors [7]. Affected individuals commonly present initially with scapulohumeral and facial weakness; the development of truncal, pelvic and lower limb weakness correlates with a 23% risk of wheelchair dependence as the disease progresses [7].
No effective pharmacological or alternative treatments are currently available to alter the clinical course of FSHD. Recent success with genetic-based pharmaceutical treatments for other neuromuscular disorders, provide hope that similar advances will lead to clinical trials of new therapies in FSHD [8], however, until recently progress has been slow due to complex genetics, epigenetic variables and challenges in establishing a reliable disease model for FSHD [9]. Disease-specific outcome measures with strong measurement properties, able to accurately quantify functional change as a result of treatment or disease progression, are required not only for clinical trial planning but to ensure best practice in clinical care. In the past five years international FSHD experts have driven the development of new performance-based physical function outcome measures, self-reported health related questionnaires and innovative clinical trial research tools for this purpose [8], [10]. Despite the drive to create sensitive disease specific outcome measures to quantify physical functioning in FSHD, to our knowledge there has not been a study summarizing the current status of outcome measures used to assess function in FSHD.
The selection of an outcome measure to quantify clinical progress or measure change from intervention requires careful consideration. Adequate knowledge of the methodological quality of measurement properties, including measurement error, reliability, validity and responsiveness, is required. Measurement constructs need to align with known impairments, activity limitations or participation restrictions quantified by the outcome measure, and the utility of the measure should suit the setting of intended use. The analysis of outcome measures under the International Classification of Functioning, Disability and Health (ICF) framework helps to identity the impairments, activity limitations and participation restrictions being quantified by a given measure [11].
The aim of this review was two-fold: 1) to identify and provide a descriptive summary of all outcome measures used to measure physical function performance and physical function related quality of life in FSHD; 2) to systematically appraise the evidence on measurement properties (reliability, construct validity, measurement error and responsiveness) of performance-based outcome measures of physical function in individuals diagnosed with FSHD. By outlining the levels of evidence for measurement properties and clinical utility (cost, time taken and interpretability) we hope to provide clinicians and researchers with valuable information to assist their choice of outcome measure when assessing physical functioning in individuals with FSHD.
Section snippets
Materials and methods
This systematic review was registered with the international prospective register of systematic reviews, PROSPERO https://www.crd.york.ac.uk/prospero/ (reference number: CRD42018092163) and reported according to the preferred reporting items for systematic reviews and meta-analysis (PRISMA) principles [12].
Results
The search generated 857 studies after duplicate removal (Fig. 1). Of these studies, 29 met the criteria for extraction of descriptive data and 12 for data extraction of measurement property evidence [2], [3], [18], [19], [20], [21], [22], [23], [24], [25], [26], [27], [28], [29], [30], [31], [32], [33], [34], [35], [36], [37], [38], [39], [40], [41], [42], [43].
Discussion
To our knowledge this is the first review providing a descriptive summary of both performance-based and self-reported outcome measures assessing elements of physical function in individuals with FSHD. It is also the first to systematically synthesize the measurement property evidence of performance-based physical function outcome measures used in the FSHD population.
While FSHD is one of the more common muscular dystrophies, it remains a rare disease. This review reveals a paucity of quality
Conclusions
The review used well-established systematic review methodology to provide a comprehensive summary to assist researchers and clinicians in selecting outcome measures to measure physical function in FSHD. This review demonstrates that there are very few studies examining the measurement properties of outcome measures of physical function in individuals with FSHD, with sparse evidence supporting their use in children, adolescents, older adults and those with severe physical function limitations.
Acknowledgements
Dr Alicia Spittle in her role as advisory chair to KdV in her Master of Philosophy degree at The University of Melbourne.
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Cited by (3)
1st FSHD European Trial Network workshop:Working towards trial readiness across Europe
2021, Neuromuscular DisordersReliability and validity of the FSHD-composite outcome measure in childhood facioscapulohumeral dystrophy
2021, Neuromuscular DisordersCitation Excerpt :Reliable, valid, and responsive measures of performance-based and self-reported function are essential to optimize clinical trial readiness and assess response to therapeutic interventions [5,6]. A recent systematic review highlighted the paucity of robust FSHD-specific instruments in adults, with even fewer options available for children [7]. The Facioscapulohumeral Composite Outcome Measure (FSHD-COM) was developed to address this need [6,8].