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. 2024 Jun;13(3):583-598.
doi: 10.1007/s40120-024-00587-9. Epub 2024 Mar 2.

Assessment of Barriers to Referral and Appointment Wait Times for the Evaluation of Spinal Muscular Atrophy (SMA): Findings from a Web-Based Physician Survey

Mary A Curry  1 , Rosángel E Cruz  2 , Lisa T Belter  2 , Mary K Schroth  2 , Jill Jarecki  2
Affiliations

Assessment of Barriers to Referral and Appointment Wait Times for the Evaluation of Spinal Muscular Atrophy (SMA): Findings from a Web-Based Physician Survey

Mary A Curry et al. Neurol Ther. 2024 Jun.

Abstract

Background: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by progressive muscle weakness and atrophy. Clinical trial data suggest early diagnosis and treatment are critical. The purpose of this study was to evaluate neurology appointment wait times for newborn screening identified infants, pediatric cases mirroring SMA symptomatology, and cases in which SMA is suspected by the referring physician. Approaches for triaging and expediting referrals in the US were also explored.

Methods: Cure SMA surveyed healthcare professionals from two cohorts: (1) providers affiliated with SMA care centers and (2) other neurologists, pediatric neurologists, and neuromuscular specialists. Surveys were distributed directly and via Medscape Education, respectively, between July 9, 2020, and August 31, 2020.

Results: Three hundred five total responses were obtained (9% from SMA care centers and 91% from the general recruitment sample). Diagnostic journeys were shorter for infants eventually diagnosed with SMA Type 1 if they were referred to SMA care centers versus general sample practices. Appointment wait times for infants exhibiting "hypotonia and motor delays" were significantly shorter at SMA care centers compared to general recruitment practices (p = 0.004). Furthermore, infants with SMA identified through newborn screening were also more likely to be seen sooner if referred to a SMA care center versus a general recruitment site. Lastly, the majority of both cohorts triaged incoming referrals. The average wait time for infants presenting at SMA care centers with "hypotonia and motor delay" was significantly shorter when initial referrals were triaged using a set of "key emergency words" (p = 0.036).

Conclusions: Infants directly referred to a SMA care center versus a general sample practice were more likely to experience shorter SMA diagnostic journeys and appointment wait times. Triage guidelines for referrals specific to "hypotonia and motor delay" including use of "key emergency words" may shorten wait times and support early diagnosis and treatment of SMA.

Keywords: Appointment wait times; Diagnostic odyssey; Newborn screening; Pediatric neurology; Referrals; Spinal muscular atrophy (SMA); Triage.

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Conflict of interest statement

Jill Jarecki was an employee of Cure SMA at the time of this study and is currently an employee of BioMarin Pharmaceuticals, Inc. Rosángel Cruz was an employee of Cure SMA at the time of this study; the author has nothing to disclose. Mary Curry, Lisa Belter, and Mary Schroth have nothing to disclose.

Figures

Fig. 1
Fig. 1
Reported diagnostic journey of SMA Type 1 patients amongst general recruitment sample. a Percent (%) of cases in which survey respondent was the first neurologist/pediatric neurologist/neuromuscular specialist to evaluate the patient prior to diagnosis with SMA Type 1; b average number of providers SMA Type 1-affected patient previously saw in which survey participant was not the first to complete evaluation since symptom onset; c average diagnostic delay for SMA Type 1-affected patients in which survey participant was not the first to complete evaluation since symptom onset. SMA spinal muscular atrophy
Fig. 2
Fig. 2
Reported diagnostic journey of SMA Type 1 patients among SMA care center sample. a Percent (%) of cases in which survey respondent was the first neurologist/pediatric neurologist/neuromuscular specialist to evaluate the patient with SMA Type 1 prior to diagnosis; b average number of providers SMA Type 1-affected patient previously saw in which survey participant was not the first to complete evaluation since symptom onset; c average diagnostic delay for SMA Type 1 affected patients in which survey participant was not the first to complete evaluation since symptom onset. SMA spinal muscular atrophy
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