SMA adults recommend tailored patient-reported outcome measures
Gauging 'lived experience' beyond physical function a priority
Adults with spinal muscular atrophy (SMA) recommend individually tailored patient-reported outcome measures, or PROMs, to accurately gauge their lived experience, with a focus that goes beyond assessments of physical function to incorporate mental health, sexual function, sleep, and fatigue.
“New or modified patient-reported outcome measures should be developed collaboratively with clinicians, researchers, and adults with [SMA] to create improved and meaningful tools,” the researchers wrote.
Details of the interviews were published in the Journal of Rehabilitation Medicine, in the study, “An exploratory qualitative assessment of patient and clinician perspectives on patient-reported outcome measures and disease-modifying therapies in adults with spinal muscular atrophy.”
PROMs are a way to measure a patient’s lived experience, focusing on symptoms, pain, and function, as well as mental or social health, and quality of life. Currently available PROMs have been repurposed to approximate the adult SMA population, most of which examine physical function, while a few assess sexual function, speech, respiration, and fatigue. But studies suggest PROMs don’t always adequately reflect aspects of SMA and are poorly integrated into clinical research settings.
“In a PROM that is proven to be sensitive, reliable, and responsive in an adult SMA population, even mild improvement or stability over time could be meaningful,” the researchers wrote.
What SMA patients want from PROMs
To design a PROM that captures SMA adults’ experiences, clinicians and researchers need to know if they are measuring essential items. Here, a team led by scientists at Dalhousie University in Canada interviewed 10 adult patients, caregivers, and two clinicians after completing a set of PROMs. Six patients were women, six were non-sitters, five were diagnosed with SMA type 2, four had type 3, and one had type 4. Nine were receiving disease-modifying therapies (DMTs).
Among the selected PROMs was the Spinal Muscular Atrophy Functional Rating Scale (SMAFRS), which is commonly recommended. The Spinal Muscular Atrophy Independence Scale (SMAIS-ULM) and Egen Klassification Scale Version 2 (EK2) are new PROMs focusing on physical function. Quality of life and community participation were assessed with the Quality of Life in Neuromuscular Disease scale (QOL-NMD) and the Utrecht Scale for Evaluation of Rehabilitation-Participation (USER-P).
Following the interviews, four main topics were identified: the concerns and impacts of SMA, PROMs acceptability and responsiveness, current gaps in PROM assessment, and the goals and effects of DMTs. Across these topics, 10 themes emerged.
Regarding the concerns and impacts of SMA, the first theme found that maintaining bodily function, minimizing limitations, and maximizing social and workplace participation were relevant.
In the second theme, participants described physical concerns resulting from SMA, including the loss of motor, respiratory, or swallowing and speaking, called bulbar function. Social concerns included being unable to participate in the community, navigating the education system, losing intimacy, health anxiety, and issues with communicating. Still, participants reported high overall life satisfaction, with statements such as “It’s my normal, I don’t know anything different,” one patient said.
Under PROM acceptability and responsiveness, the third theme found that available PROMs weren’t fully responsive to patient-identified meaningful functional changes. In the fourth theme, while PROMs explore meaningful topics, they must address patients’ functional priorities. The fifth theme found that PROM acceptability was specific to functional groups, with walkers preferring broad PROMs while non-sitters preferring disease- and task-specific ones. Lastly, in the sixth theme, PROM development should include a patient-centered approach.
“It does a good job at capturing what I can’t do,” noted one non-sitting patient about how SMAFRS poorly represented their abilities. Another participant with SMA type 3 described the need for a personalized approach to PROMs: “The questions are very much for SMA type 2 or 3. I don’t really have as big of a challenge as what the questionnaires were asking. You won’t see a lot of change for me in those questionnaires.”
What PROMs do best and least
PROMs were most acceptable and responsive for people with a more rapid disease course and moderate levels of function. Generally, EK2 and SMAIS-ULM were effective with sitters and non-sitters, and USER-P was suitable for all functional classes. SMAFRS and QOL-NMD were appropriate for sitters and walkers.
Both participants and clinicians said QOL-NMD best addressed psychological status, but not breathing, while EK2 and SMAIS-ULM were the most responsive measures. Non-sitters and sitters mostly accepted EK2 due to its focus on fine motor function, but were concerned that it discouraged completion.
According to a non-sitter, EK2 is the “worst measure” because of “the scoring of 0 to 4. I have my day, and I get my results, and it’s basically a 0, so it’s kind of the opposite of motivational.”
Clinicians thought the SMAIS-ULM was easily scored and made possible a detailed analysis of upper limb function. They also said EK2 was the most clinically meaningful as it broadly covers physical abilities.
In the seventh theme, patients said PROMs had essential gaps in mental health, intimacy, fatigue, sleep, and bulbar function, whereas according to the eighth theme PROMs may not fully grasp a patient’s life satisfaction and functional capacities. One participant said, “trying to deal with everything we have to deal with, it takes a toll on your mental health.”
Clinicians said some colleagues would choose tools to capture what they felt was essential, but missed other functional domains, such as mental health. The PROMs poorly captured global cognitive ability, they said. Clinicians also described patients who scored low on physical domains, but continued to report high levels of function with support, showcasing “a potential gap between individuals’ measured and actualized overall function,” the researchers wrote.
Under the goals and effects of DMTs, the ninth theme found that adults with SMA hoped to achieve overall disease stability with treatment. In theme 10, those treated with DMTs reported improvements or stability in motor function, breathing, bulbar function, and fatigue levels, allowing them to perform tasks for longer than before DMTs.
Regarding goals, one patient stated, “it’s being a member of society, being able to work, to socialize, to get out of bed and enjoy the day, as opposed to the individual physical tasks.”
“To further improve PROM performance, current measures should be modified, or new measures should be developed to target a predefined population,” the researchers wrote. Goals should be established “in a collaborative setting between clinicians, researchers, and patients to create a measure that allows in-depth and meaningful evaluation of a person’s lived experiences.”
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