P0066 - Assessment of Referral Patterns, Referral Barriers, and Diagnostic Patterns in Spinal Muscular Atrophy (SMA) Amongst Pediatricians

Objective: Cure SMA initiated a study to further understand referral patterns and barriers impacting the pediatric-specialty care interface that may contribute to existing diagnostic delays in spinal muscular atrophy (SMA). Diagnostic awareness of SMA was also assessed. The study is part of a broader effort by the Cure SMA Industry Collaboration to further understand diagnostic delays in SMA.

Background: SMA is an autosomal recessive neuromuscular disease characterized by progressive muscle weakness and atrophy. Clinical trial data suggests that early treatment is critical to improving survival, modifying disease progression, and is expected to alter the phenotype.

Methods: Cure SMA conducted a survey gauging referral patterns, referral barriers, and diagnostic patterns in SMA among pediatricians. It was distributed via email by Medscape Education from December 3, 2019 to January 2, 2020.

Results: 600 general pediatricians completed the survey. 35.7% reported utilization of developmental screening tools as indicated by guidelines while 37.3% of providers use tools at every well visit. However, 27.0% of pediatricians surveyed underutilize screening tools (Figure 1). Providers with 0 to 10 years of practice experience, were 1.549 times more likely than those with greater experience, to use the tools per current recommendations or at every well visit. 45.0% of pediatricians correctly identified the genetic testing requirement for SMA while 37.2% chose muscle biopsy. Additionally, pediatricians were asked to rate the importance of factors that may be considered when choosing a neurologist/pediatric neurologist, to refer to a patient; appointment wait time (87.6%), the specialist’s previous experience treating a suspected condition (83.5%), and insurance coverage (80.7%) were top factors rated as ‘very important’ or ‘important’. 66.5% reported an average first appointment wait time of greater than 4-weeks to see a regional neurologist or pediatric neurologist. Providers also ranked referral barriers perceived as contributors to appointment wait time; per respondents, the top referral barriers were restrictions due to insurance (67.3%) , lack of triage at specialist offices (63.3%), and lack of neurologists or pediatric neurologists within the region (62.0%) (Figure 2).

Conclusions: The study yielded insight into referral barriers and screening patterns which may contribute to existing diagnostic delays. Continuing education may be utilized to emphasize the importance of developmental screening in practice. Moreover, improved triage guidelines related to pediatric hypotonia and increased awareness of regional availability of neurologists/pediatric neurologists may reduce appointment wait time. Increased awareness of SMA’s early signs and symptoms and the urgency behind early treatment remains a critical need. Cure SMA’s SMArt Moves provides educational resources, including continuing medical education modules, that detail SMA diagnostic criteria as well as the latest treatment options and protocols.
Funding for this research was provided by the SMA Industry Collaboration, Astellas, AveXis, a Novartis Company, Biogen, Cytokinetics, Genentech/Roche, Novartis, and Scholar Rock.