Study Outlines Healthcare Concerns of Spinal Muscular Atrophy Patients, Families and Doctors

A recent study identified several key health-related factors as the most concerning issues for both patients/families and healthcare professionals that deal with Spinal Muscular Atrophy. The study, entitled “Assessing the Needs of the SMA Population: Survey Results of Health Care Providers and Families,” was recently published in the journal SAGE Open.

Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder that affects motor neurons, typically in children and young people. The disease causes the homozygous deletion of exon 7 of the survival motor neuron 1 (SMN1) gene and variable copy number of the modifying gene SMN2, leading to muscle atrophy. Pulmonary compromise is one of the primary causes of death in children with SMA, as well as gastrointestinal and orthopedic disorders.

Current recommendations regarding care of patients with SMA are based on expert opinions based on a relatively small case series, and often conflict one another. Thus, many questions still remain on how to appropriately deliver care for children with SMA.

The Department of Orthopedics and Rehabilitation at the University of Wisconsin–Madison is a center that delivers care for children with SMA, and is developing a longitudinal multi-center, multi-disciplinary database to improve the care of these patients through evidence-based medicine.

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In order to understand the key issues concerning care of SMA for families, patients and health care professionals, Matthew A. Halanski, MD, Associate Professor in the Department of Orthopedics and Rehabilitation at the University of Wisconsin and colleagues, conducted an electronic survey involving 77 patients and families with SMA and 89 healthcare professionals. The survey was circulated electronically to an informal SMA interest group, presented at the Cure SMA national meeting, and was distributed electronically to the Cure SMA mail list.

Results revealed that for patients and families the most important issues involve breathing problems, impact of diet, impact of disease on the family, spinal deformity, and surgical interventions. With regard to the healthcare professionals, the most relevant issues raised were quite similar to those offered by families, and involved topics such as breathing issues, impact on family, spinal deformity, impact of diet, and impact of medications.

The team of researchers indicate that these results show similar patterns of healthcare concerns, and that this survey was crucial for identifying the needs of both patients/families and health care professionals. The results of the study may provide appropriate clinical management of SMA.