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Patient-Reported Outcomes Emerging as Way to Monitor, Assess Patients With SMA


Patients with spinal muscular atrophy (SMA) could have improved monitoring and assessment of their disease through the utilization of patient-reported outcome measures.

Patient-reported outcome measures (PROMs) have emerged as a potential tool for the treatment of patients with spinal muscular atrophy (SMA), according to a review published in Journal of Neuromuscular Diseases. However, additional studies are needed before PROMs can be used in clinical decision-making.

PROMs are used to quantify patient experiences for clinicians and researchers; they measure quality of life, symptoms, function, pain, and overall health. This current review aimed to investigate, characterize, and visualize existing PROMs that are used for patients with SMA and other neuromuscular diseases (NMDs).

A scoping methodology was used to collect data from available literature about PROMs in patients with SMA. The researchers used PubMed, Google Scholar, Scopus, Embase, Web of Science, and grey literature to search for articles for the review. PROMs needed to be used in an adult SMA populations and meet the definition outlined by the Canadian institute for Health Information. There were 81 articles included in the review, of which 77 were peer reviewed and 4 were grey literature; 55 articles directly assessed PROMs and 32 were the first publication of a specific PROM. Concurrent validity and internal consistency were the most common themes studied.

Studies were included if the PROMs were studied in an adult population of patients with SMA or NMD, were completed by a patient, informed the researchers of the patients’ health status, and were relevant to different domains, including quality of life, disease symptoms, pain, physical health, social health, or mental health. The PROM must have also been used from 2016 on. Articles that were not available in English or that had data that could not be obtained were excluded. The literature search concluded in June 2021.

The researchers extracted data on internal consistency, reliability, measurement error, responsiveness, and Rasch analysis from the articles selected. Another 6 domains of function were created to evaluate themes addressed in the PROMs: physical function, mental health and cognition, fatigue, communication, pain, and systemic issues.

Thirty-one PROMs were included in the final review, most of which assessed physical function (80%), mental health and cognition (67%), and fatigue (54%). Communication and speech (42%), pain (35%), and systemic issues (29%) were less commonly evaluated. Only 7 PROMs that evaluated all 6 domains.

The Short Form 36, the Patient Reported Outcome Measurement Information System, and Fatigue Severity Scale were the most cited PROMs, with an average 5 articles per PROM and an average 1.90 PROMs evaluated in each study. There were 3 reviews that evaluated outcome measures for patients with NMD or SMA but there were no reviews that focused on adult patients with SMA or PROMs in SMA.

There were some limitations to this study. The review had to fall between a scoping review and a systematic review because of the relatively small number of PROMs that addressed adults with SMA, only 1 researcher conducted the initial review, and most PROMs did not have a complete validation available, which could have led to bias. Domains of function also may not have been adequately evaluated in some PROMs.

The researchers concluded that there are 31 PROMs that exist to evaluate adults with SMA but there are few that are comprehensive and that "it is important to continue to evaluate and validate the evidence to understand both their theoretical and practical value in monitoring and assessing adults with SMA."


Slayter J, Casey L, O’Connell C. Patient reported outcome measures in adult spinal muscular atrophy: a scoping review and graphical visualization of the evidence. J Neuromuscul Dis. Published December 13, 2022. doi:10.3233/JND-221595

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