Systematic review of motor function scales and patient reported outcomes in spinal muscular atrophy
Authors:
Wu, J. W., Pepler, L., Maturi, B., Afonso, A. C. F., Sarmiento, J., and Haldenby, R.
Abstract:
Spinal muscular atrophy (SMA) is a heterogeneous disease that results in loss of motor function. In an evolving treatment landscape, establishing the suitability and limitations of existing motor function scales and patient-reported outcomes (PROs) used to monitor patients with this disease is important. A systematic review was conducted to examine utility of motor function scales and PROs in evaluating patients with SMA. Published literature was reviewed up to June 2021 with no start date restriction. Of the reports screened, 122 were deemed appropriate for inclusion and are discussed in this review (including 24 validation studies for motor function scales or patient reported outcomes). Fifteen motor function scales and PROs were identified to be commonly used (≥5 studies), of which 11 had available validation assessments. Each instrument has its strengths and limitations. It is imperative that the patient population (e.g., age, mobility), goals of treatment, and outcomes or endpoints of interest be considered when selecting the appropriate motor function scales and PROs for clinical studies.
Congenital malformations, deformations and chromosomal abnormalities and related symptoms Diseases of and symptoms related to the musculoskeletal system and connective tissue
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