Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

At a glance: The STEP trials

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.
ADVANCED SEARCH
Log in
Top
Neurology and Therapy

Open Access 02-03-2024 | Spinal Muscular Atrophy | ORIGINAL RESEARCH

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

Authors: Mary A. Curry, Rosángel E. Cruz, Lisa T. Belter, Mary K. Schroth, Jill Jarecki

Published in: Neurology and Therapy

Login to get access

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.
Appendix
Available only for authorised users
Literature
1.
Lefebvre S, Burglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995;80(1):155–65.PubMedCrossRef
2.
Arnold WD, Kassar D, Kissel JT. Spinal muscular atrophy: diagnosis and management in a new therapeutic era. Muscle Nerve. 2015;51(2):157–67.PubMedCrossRef
3.
4.
5.
Sugarman EA, Nagan N, Zhu H, et al. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens. Eur J Hum Genet. 2012;20(1):27–32.PubMedCrossRef
6.
Wirth B. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). Hum Mutat. 2000;15(3):228–37.PubMedCrossRef
7.
Bergin A, Kim G, Price DL, Sisodia SS, Lee MK, Rabin BA. Identification and characterization of a mouse homologue of the spinal muscular atrophy-determining gene, survival motor neuron. Gene. 1997;204(1–2):47–53.PubMedCrossRef
8.
9.
Verhaart IEC, Robertson A, Wilson IJ, et al. Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy—a literature review. Orphanet J Rare Dis. 2017;12(1):124.PubMedPubMedCentralCrossRef
10.
Ogino S, Leonard DG, Rennert H, Ewens WJ, Wilson RB. Genetic risk assessment in carrier testing for spinal muscular atrophy. Am J Med Genet. 2002;110(4):301–7.PubMedCrossRef
11.
Wadman RI, Stam M, Gijzen M, et al. Association of motor milestones, SMN2 copy and outcome in spinal muscular atrophy Types 0–4. J Neurol Neurosurg Psychiatry. 2017;88(4):365–7.PubMedCrossRef
12.
Zerres K, Rudnik-Schoneborn S. Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications. Arch Neurol. 1995;52(5):518–23.PubMedCrossRef
13.
Russman BS. Spinal muscular atrophy: clinical classification and disease heterogeneity. J Child Neurol. 2007;22(8):946–51.PubMedCrossRef
14.
Piepers S, van den Berg LH, Brugman F, et al. A natural history study of late onset spinal muscular atrophy Types 3b and 4. J Neurol. 2008;255(9):1400–4.PubMedCrossRef
15.
Schorling DC, Pechmann A, Kirschner J. Advances in treatment of spinal muscular atrophy—new phenotypes, new challenges, new implications for care. J Neuromuscul Dis. 2020;7(1):1–13.PubMedPubMedCentralCrossRef
16.
17.
18.
19.
Mercuri E. Spinal muscular atrophy: from rags to riches. Neuromuscul Disord. 2021;31(10):998–1003.PubMedCrossRef
20.
Aslesh T, Yokota T. Restoring SMN expression: an overview of the therapeutic developments for the treatment of spinal muscular atrophy. Cells. 2022;11(3):417.PubMedPubMedCentralCrossRef
21.
Ravi B, Chan-Cortes MH, Sumner CJ. Gene-targeting therapeutics for neurological disease: lessons learned from spinal muscular atrophy. Annu Rev Med. 2021;72:1–14.PubMedCrossRef
22.
Motyl AAL, Gillingwater TH. Timing is everything: clinical evidence supports pre-symptomatic treatment for spinal muscular atrophy. Cell Rep Med. 2022;3(8): 100725.PubMedPubMedCentralCrossRef
23.
Strauss KA, Farrar MA, Muntoni F, et al. Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the phase III SPR1NT trial. Nat Med. 2022;28(7):1381–9.PubMedPubMedCentralCrossRef
24.
Strauss KA, Farrar MA, Muntoni F, et al. Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the phase III SPR1NT trial. Nat Med. 2022;28(7):1390–7.PubMedPubMedCentralCrossRef
25.
McMillan HJ, Kernohan KD, Yeh E, et al. Newborn screening for spinal muscular atrophy: Ontario testing and follow-up recommendations. Can J Neurol Sci. 2021;48(4):504–11.PubMedCrossRef
26.
Lee BH, Waldrop MA, Connolly AM, Ciafaloni E. Time is muscle: a recommendation for early treatment for preterm infants with spinal muscular atrophy. Muscle Nerve. 2021;64(2):153–5.PubMedCrossRef
27.
Abreu NJ, Waldrop MA. Overview of gene therapy in spinal muscular atrophy and Duchenne muscular dystrophy. Pediatr Pulmonol. 2021;56(4):710–20.PubMedCrossRef
28.
29.
30.
Tizzano EF. Treating neonatal spinal muscular atrophy: a 21st century success story? Early Hum Dev. 2019;138: 104851.PubMedCrossRef
31.
Mercuri E, Finkel RS, Muntoni F, et al. Diagnosis and management of spinal muscular atrophy: part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord. 2018;28(2):103–15.PubMedCrossRef
32.
Butterfield RJ. Spinal muscular atrophy treatments, newborn screening, and the creation of a neurogenetics urgency. Semin Pediatr Neurol. 2021;38: 100899.PubMedPubMedCentralCrossRef
33.
Curry M, Cruz R, Belter L, Schroth M, Lenz M, Jarecki J. Awareness screening and referral patterns among pediatricians in the United States related to early clinical features of spinal muscular atrophy (SMA). BMC Pediatr. 2021;21(1):236.PubMedPubMedCentralCrossRef
34.
Bolaño Díaz CF, Morosini M, Chloca F, et al. The difficult path to diagnosis of the patient with spinal muscular atrophy. Arch Argent Pediatr. 2023;121(2): e202102542.PubMed
35.
36.
37.
38.
Bladen CL, Thompson R, Jackson JM, et al. Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe. J Neurol. 2014;261(1):152–63.PubMedCrossRef
39.
Jedrzejowska M, Gos M, Zimowski JG, Kostera-Pruszczyk A, Ryniewicz B, Hausmanowa-Petrusewicz I. Novel point mutations in survival motor neuron 1 gene expand the spectrum of phenotypes observed in spinal muscular atrophy patients. Neuromuscul Disord. 2014;24(7):617–23.PubMedCrossRef
40.
Greenwood-Lee J, Jewett L, Woodhouse L, Marshall DA. A categorisation of problems and solutions to improve patient referrals from primary to specialty care. BMC Health Serv Res. 2018;18(1):986.PubMedPubMedCentralCrossRef
41.
Baxter SK, Blank L, Woods HB, Payne N, Rimmer M, Goyder E. Using logic model methods in systematic review synthesis: describing complex pathways in referral management interventions. BMC Med Res Methodol. 2014;14:62.PubMedPubMedCentralCrossRef
42.
Bohnhoff JC, Guyon-Harris K, Schweiberger K, Ray KN. General and subspecialist pediatrician perspectives on barriers and strategies for referral: a latent profile analysis. BMC Pediatr. 2023;23(1):576.PubMedPubMedCentralCrossRef
43.
44.
Timmins L, Kern LM, O’Malley AS, Urato C, Ghosh A, Rich E. Communication gaps persist between primary care and specialist physicians. Ann Fam Med. 2022;20(4):343–7.PubMedPubMedCentralCrossRef
45.
46.
Finkel RS, Mercuri E, Darras BT, et al. Nusinersen versus sham control in infantile-onset spinal muscular atrophy. N Engl J Med. 2017;377(18):1723–32.PubMedCrossRef
47.
Mendell JR, Al-Zaidy S, Shell R, et al. Single-dose gene-replacement therapy for spinal muscular atrophy. N Engl J Med. 2017;377(18):1713–22.PubMedCrossRef
48.
De Vivo DC, Bertini E, Swoboda KJ, et al. Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: interim efficacy and safety results from the Phase 2 NURTURE study. Neuromuscul Disord. 2019;29(11):842–56.PubMedPubMedCentralCrossRef
49.
50.
Mercuri E, Pera MC, Brogna C. Neonatal hypotonia and neuromuscular conditions. Handb Clin Neurol. 2019;162:435–48.PubMedCrossRef
51.
Morton SU, Christodoulou J, Costain G, et al. Multicenter consensus approach to evaluation of neonatal hypotonia in the genomic era: a review. JAMA Neurol. 2022;79(4):405–13.PubMedPubMedCentralCrossRef
52.
Pane M, Donati MA, Cutrona C, et al. Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening. Eur J Pediatr. 2022;181(7):2821–9.PubMedPubMedCentralCrossRef
53.
Glascock J, Sampson J, Connolly AM, et al. Revised recommendations for the treatment of infants diagnosed with spinal muscular atrophy via newborn screening who have 4 copies of SMN2. J Neuromuscul Dis. 2020;7(2):97–100.PubMedPubMedCentralCrossRef
54.
Glascock J, Sampson J, Haidet-Phillips A, et al. Treatment algorithm for infants diagnosed with spinal muscular atrophy through newborn screening. J Neuromuscul Dis. 2018;5(2):145–58.PubMedPubMedCentralCrossRef
55.
Kemper AR, Lam KK. Review of newborn screening implementation for spinal muscular atrophy final report 2020.
56.
Prior TW, Leach ME, Finanger E, et al. Spinal muscular atrophy. In: Adam MP, Pagon RA, et al., editors. Genereviews. WA: University of Washington, Seattle; 2020.
57.
Shellhaas RA, deVeber G, Bonkowsky JL, Child Neurology Society Research C. Gene-targeted therapies in pediatric neurology: challenges and opportunities in diagnosis and delivery. Pediatr Neurol. 2021;125:53–7.PubMedPubMedCentralCrossRef
58.
Cao Y, Cheng M, Qu Y, et al. Factors associated with delayed diagnosis of spinal muscular atrophy in China and changes in diagnostic delay. Neuromuscul Disord. 2021;31(6):519–27.PubMedCrossRef
59.
D’Silva AM, Kariyawasam DST, Best S, Wiley V, Farrar MA, Group NSNS. Integrating newborn screening for spinal muscular atrophy into health care systems: an Australian pilot programme. Dev Med Child Neurol. 2022;64(5):625–32.PubMedCrossRef
60.
Vora SS, Buitrago-Mogollon TL, Mabus SC. A quality improvement approach to ensuring access to specialty care for pediatric patients. Pediatr Qual Saf. 2022;7(3): e566.PubMedPubMedCentralCrossRef
61.
Rea CJ, Wenren LM, Tran KD, et al. Shared care: using an electronic consult form to facilitate primary care provider-specialty care coordination. Acad Pediatr. 2018;18(7):797–804.PubMedCrossRef
62.
Patterson V, Humphreys J, Henderson M, Crealey G. Email triage is an effective, efficient and safe way of managing new referrals to a neurologist. Qual Saf Health Care. 2010;19(5): e51.PubMed
63.
64.
Metadata
Title
Assessment of Barriers to Referral and Appointment Wait Times for the Evaluation of Spinal Muscular Atrophy (SMA): Findings from a Web-Based Physician Survey
Authors
Mary A. Curry
Rosángel E. Cruz
Lisa T. Belter
Mary K. Schroth
Jill Jarecki
Publication date
02-03-2024
Publisher
Springer Healthcare
Published in
Neurology and Therapy
Print ISSN: 2193-8253
Electronic ISSN: 2193-6536
DOI
https://doi.org/10.1007/s40120-024-00587-9