Mobility measures miss key ways SMA impacts patients: Study
Researchers organized focus groups with aim to develop new standardized tools
Standardized measures to track the severity of spinal muscular atrophy (SMA) don’t adequately capture aspects of the disease that have major impacts on patients and their families, such as fatigue and the need for medical appointments that can be challenging to schedule, a study reports.
“This study provides very useful data to include the perspective of the patient in the design of new outcomes for SMA patients,” the researchers wrote in “Identification of the most relevant aspects of spinal muscular atrophy (SMA) with impact on the quality of life of SMA patients and their caregivers: the PROfuture project, a qualitative study,” in the Journal of Patient-Reported Outcomes.
SMA is a genetic disorder whose main symptom is progressive muscle weakness. The disease has sizable impacts on patients, because of its effects and the psychological and social burden of managing a lifelong condition.
To track the severity of SMA and measure how patients are responding to new treatments, researchers generally rely on standardized measures of motor function, such as the Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) and the Hammersmith Functional Motor Scale Expanded (HFMSE).
The tests can be useful in research and clinical practice, but the focus on mobility means they tend to gloss over other ways SMA can impact patients, meaning relying only on them may miss key aspects of living with SMA.
A need for new standardized SMA measures
“Current tools used to assess people living with SMA are very useful in the clinical practice to assess the motor function status of patients, but do not completely assess other dimensions of the disease and might not be sufficient to evaluate all the impact that the new available treatments may have on a patient,” wrote researchers in Spain who conducted five focus groups they called the PROfuture Project with an eye towards developing new standardized measures to better capture the full experience of SMA. The groups included people with SMA along with parents of children with the disease.
“The present study organized focus groups with Spanish SMA patients and parents/caregivers to qualitatively assess the impact of the disease on physical, psychological, and social aspects of their lives,” the scientists wrote.
The participants generally had positive views on current measures of mobility and tended to agree that mobility issues are the aspect of SMA that causes the most difficulty in daily life. But existing instruments fail to fully capture other aspects, they said.
For example, some of the biggest impacts of SMA are fatigue and pain, which aren’t captured by mobility assessments. The need for frequent medical visits and hospital admissions, which can disrupt routines, was also a major impact not captured by tests. Many said mobility measurements don’t provide enough detail about activities like eating and sleeping or patients’ feelings of vulnerability and desire for independence.
“Other aspects of the disease, such as pain, fatigue, swallowing, respiration, in addition to social and psychological impact, should be added in the patient evaluation,” said the researchers, who developed a list of 10 areas based on feedback that could be included in new assessments to apprehend the holistic impact of SMA. The areas were mobility and independence, fatigue and fatiguability, infections and hospital admissions, spine and joint problems, vulnerability, pain, feeding, time spent in medical care, breathing, and sleep.
This list can be “considered as relevant to be systematically measured in the assessment of the impact of SMA on the patients’ everyday life,” the scientists wrote, noting it could serve as the basis to design new patient-reported outcome measures for research and clinical practice.
Many patients, especially those who rely on a wheelchair, said they feel a stigma as a person who’s visibly disabled. The researchers said they didn’t list it because well-established standardized tests are in use to assess disability-related stigma.
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