Doctors Advise Care for Kids with SMA Type 1 Based on Certain Factors

Studies in different countries have shown that doctors recommend different measures for the care of children with type 1 spinal muscular atrophy. A recent study now shows that factors such as the doctors’ knowledge about the disease, their perceived best interest of the child, and regional context all play a role in recommendations and family follow-up.

The study, “Physician Driven Variation in the Care of Children With Spinal Muscular Atrophy Type 1,” was published in the journal Pediatric Pulmonology.

Type 1 SMA (SMA1) is the most common and severe among the four SMA subtypes. Clinical manifestations that show before a child is 6 months old include the inability to sit independently and significant respiratory insufficiency, but normal cognitive development. The introduction of non-invasive ventilation (NIV) has increased median survival from nearly 8 months to 24 months.

Studies in the U.S. and other countries revealed that some physicians are against measures that prolong life because they believe the measures only extend the child’s discomfort. Also revealed was a wide variation in what doctors recommend and offer to families, and that the doctor’s training influences family decisions.

The general idea seems to be that SMA1 children require palliative care more than interventions that sustain their life, but do not result in any improvement with the disease.

To understand where doctors in Canada stand regarding the matter, researchers invited pediatric neurologists and respirologists to complete a survey designed to explore the potential factors that may underlie variability in terms of treatment options offered to SMA1 children.

Survey questions included physician information (gender subspecialty, number of years in practice, location of practice, and case load of neuromuscular patients); knowledge of SMA1 (prognosis and care); current practice (treatments offered and opinions); and beliefs (perceived happiness and burden of care).

A total of 183 physicians (119 neurologists and 64 respirologists) were invited to participate, but only 110 accepted. Of those, 99 completed the survey.

“Over half of participants believed that a disease modifying therapy [DMT] was likely within 10 years,” the authors wrote. “Quebec respirologists were 50 times less likely to offer long-term non-invasive ventilation (NIV) than respirologists in other provinces, and 20 times less likely to discuss tracheostomy with families.”

The results also indicated that physicians underevaluated the quality of life of SMA1 children, which impacts their practice. Those who believed that child comfort could be improved were more likely to recommend NIV in both acute and chronic settings, regardless of their medical specialty, time in practice, or belief in a near future cure or DMT.

“Physician knowledge, opinions, subjective perception of child happiness, and regional factors all influence physicians’ practices and the shared decision-making process,” the authors wrote. “Parents may not be informed or offered all the services available to their child. Knowledge translation initiatives are needed to enhance SMA1 care.”