Awareness screening and referral patterns among pediatricians in the United States related to early clinical features of spinal muscular atrophy (SMA)

Mary Curry,Rosángel Cruz,Mary Schroth,Megan Lenz,Jill Jarecki,Lisa Belter

doi:10.1186/s12887-021-02692-2

Mary Curry, Rosángel Cruz + Show 4 more

Open Access

https://doi.org/10.1186/s12887-021-02692-2

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Journal: BMC Pediatrics	Publication Date: May 17, 2021
Citations: 5	License type: open-access

Affiliation: Cure Spinal Muscular Atrophy

Abstract

BackgroundSpinal Muscular Atrophy (SMA), a leading genetic cause of death in infants, is an autosomal recessive neuromuscular disease characterized by progressive muscle weakness and atrophy. While early diagnosis of SMA is critical to modifying disease progression and improving outcomes, serious diagnostic delays persist. There is a need to improve SMA awareness, screening, and referral patterns.MethodsTwo online surveys, developed by Cure SMA for general pediatricians, were distributed by Medscape Education via email (September 2018, n = 300, December 2019, n = 600). The surveys asked about adherence to the American Academy of Pediatrics (AAP) developmental screening and surveillance guidelines, comfort with identification of early signs of neuromuscular disease (NMD), familiarity with SMA, and barriers to timely referral.ResultsIn 2018, 70.3% of survey respondents indicated comfort in identifying early signs of NMD and 67.3% noted familiarity with SMA. 52.7% correctly indicated the need for genetic testing to make a definitive diagnosis of SMA, 74.0% meet or exceed developmental screening recommendations, and 52.0% said they would immediately refer to a specialist. In 2019, with a larger sample, 73.0% adhere to developmental screening guidelines, and awareness of the genetic testing requirement for SMA was significantly lower by 7.7% (p < 0.03). Specialist wait times emerged as a barrier to referral, with 64.2% of respondents citing wait times of 1–6 months.ConclusionsMany pediatricians underutilize developmental screening tools and lack familiarity with diagnostic requirements for SMA. Continuing efforts to expand awareness and remove barriers to timely referral to SMA specialists, including reducing appointment wait times, are needed.

Highlights

Spinal Muscular Atrophy (SMA) is an autosomal recessive neuromuscular disorder (NMD) characterized by progressive muscle weakness and atrophy [1,2,3,4,5]
Both surveys were distributed via Survey Monkey to a large database of pediatricians in the United States (21, 264 pediatricians were contacted between September 19, 2018 and September 28, 2018 and 19,096 were contacted between December 3, 2019 and January 2, 2020) in partnership with Medscape Education
A binomial logistic regression was used to predict whether a pediatrician will immediately refer an infant or toddler to a pediatric neurologist for further evaluation based on their comfort level of recognizing early signs of a neuromuscular disease

Summary

Introduction

SMA is an autosomal recessive neuromuscular disorder (NMD) characterized by progressive muscle weakness and atrophy [1,2,3,4,5]. In infants with SMA Type I, the onset of irreversible denervation occurs within the first 3 months, with loss of 90% of motor units occurring by 6 months of age [16, 17]. Prior to treatment, these infants were unable to sit independently and typically required invasive supportive care with the progression of symptoms [5, 8, 9]. Spinal Muscular Atrophy (SMA), a leading genetic cause of death in infants, is an autosomal recessive neuromuscular disease characterized by progressive muscle weakness and atrophy. There is a need to improve SMA awareness, screening, and referral patterns

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Discussion

Conclusion