{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T04:31:24Z","timestamp":1790742684718,"version":"4.1.0"},"reference-count":30,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2024,8,16]],"date-time":"2024-08-16T00:00:00Z","timestamp":1723766400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Novartis"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJNS"],"abstract":"<jats:p>In the United States (U.S.), newborn screening (NBS) for spinal muscular atrophy (SMA) is implemented by individual states. There is likely variation in the practice patterns of state NBS programs and among the providers caring for newborns with SMA. This is a prospective, descriptive, observational study that seeks to quantify and describe practice patterns and heterogeneities in state NBS programs and provider practices in the U.S. We surveyed U.S. state NBS programs and care providers of newborns with SMA. Thirty states and 41 practitioners responded. NBS program practices vary by state. Most (74%) state programs provide results to both primary care and specialist providers and also defer confirmatory SMA testing to those providers. Two states had relatively high rates of false-positive or inclusive results. The total birth prevalence of SMA was 1:13,862. Most providers were in tertiary care centers (90%) and were child neurologists (81%) and\/or had fellowship training in Neuromuscular Medicine or Electromyography (76%). All providers see new referrals in less than a week, but many do not initiate treatment until &gt;3 weeks of age (39%), with most commonly reported delays related to insurance processes. Most (81%) prefer onasemnogene abeparvovec-xioi (OA) as the treatment of choice, mainly due to perceived efficacy and the route\/frequency of administration. NBS practice patterns in the U.S. vary by state but overall yielded the predicted birth prevalence of positive results. Providers evaluate these newborns urgently, but many do not initiate therapy until after 3 weeks of age. Treatment delays are mainly related to insurance processes.<\/jats:p>","DOI":"10.3390\/ijns10030058","type":"journal-article","created":{"date-parts":[[2024,8,16]],"date-time":"2024-08-16T12:40:07Z","timestamp":1723812007000},"page":"58","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Newborn Screening for Spinal Muscular Atrophy: Variations in Practice and Early Management of Infants with Spinal Muscular Atrophy in the United States"],"prefix":"10.3390","volume":"10","author":[{"given":"Craig M.","family":"Zaidman","sequence":"first","affiliation":[{"name":"Department of Neurology, Washington University in St Louis School of Medicine, St. Louis, MO 63110, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cameron D.","family":"Crockett","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Wisconsin School of Medicine and Public Health, Madison, WI 53705, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ethan","family":"Wedge","sequence":"additional","affiliation":[{"name":"Department of Neurology, Washington University in St Louis School of Medicine, St. Louis, MO 63110, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grace","family":"Tabatabai","sequence":"additional","affiliation":[{"name":"Department of Neurology, Washington University in St Louis School of Medicine, St. Louis, MO 63110, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalie","family":"Goedeker","sequence":"additional","affiliation":[{"name":"Department of Neurology, Washington University in St Louis School of Medicine, St. Louis, MO 63110, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,8,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1713","DOI":"10.1056\/NEJMoa1706198","article-title":"Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy","volume":"377","author":"Mendell","year":"2017","journal-title":"N. Engl. J. Med."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"3017","DOI":"10.1016\/S0140-6736(16)31408-8","article-title":"Treatment of infantile-onset spinal muscular atrophy with nusinersen: A phase 2, open-label, dose-escalation study","volume":"388","author":"Finkel","year":"2016","journal-title":"Lancet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1723","DOI":"10.1056\/NEJMoa1702752","article-title":"Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy","volume":"377","author":"Finkel","year":"2017","journal-title":"N. Engl. J. Med."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"915","DOI":"10.1056\/NEJMoa2009965","article-title":"Risdiplam in Type 1 Spinal Muscular Atrophy","volume":"384","author":"Baranello","year":"2021","journal-title":"N. Engl. J. Med."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1002\/ana.20473","article-title":"Natural history of denervation in SMA: Relation to age, SMN2 copy number, and function","volume":"57","author":"Swoboda","year":"2005","journal-title":"Ann. Neurol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/j.pediatrneurol.2019.05.005","article-title":"Impact of Age and Motor Function in a Phase 1\/2A Study of Infants with SMA Type 1 Receiving Single-Dose Gene Replacement Therapy","volume":"98","author":"Lowes","year":"2019","journal-title":"Pediatr. Neurol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1016\/j.nmd.2019.09.007","article-title":"Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study","volume":"29","author":"Bertini","year":"2019","journal-title":"Neuromuscul. Disord."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1381","DOI":"10.1038\/s41591-022-01866-4","article-title":"Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: The Phase III SPR1NT trial","volume":"28","author":"Strauss","year":"2022","journal-title":"Nat. Med."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1390","DOI":"10.1038\/s41591-022-01867-3","article-title":"Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: The Phase III SPR1NT trial","volume":"28","author":"Strauss","year":"2022","journal-title":"Nat. Med."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"97","DOI":"10.3233\/JND-190468","article-title":"Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2","volume":"7","author":"Glascock","year":"2020","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_11","doi-asserted-by":"crossref","unstructured":"Hale, K., Ojodu, J., and Singh, S. (2021). Landscape of Spinal Muscular Atrophy Newborn Screening in the United States: 2018\u20132021. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7030033"},{"key":"ref_12","unstructured":"(2024, May 01). U.S. Department of Health and Human Services CfDCaP, National Center for Environmental Health, Sciences DoL. Newborn Screening Quality Assurance Program. 2022 Annual Summary Report, Volume 40, Available online: https:\/\/www.cdc.gov\/newborn-screening\/media\/pdfs\/2024\/05\/NSQAP-Annual-Summary-2022-508_1.pdf."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1007\/s40120-024-00587-9","article-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","volume":"13","author":"Curry","year":"2024","journal-title":"Neurol. Ther."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1038\/ejhg.2011.134","article-title":"Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: Clinical laboratory analysis of >72,400 specimens","volume":"20","author":"Sugarman","year":"2012","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1186\/s13023-017-0671-8","article-title":"Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy\u2014A literature review","volume":"12","author":"Verhaart","year":"2017","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"e1527","DOI":"10.1212\/WNL.0000000000200986","article-title":"Newborn Screening for Spinal Muscular Atrophy in New York State: Clinical Outcomes from the First 3 Years","volume":"99","author":"Lee","year":"2022","journal-title":"Neurology"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"777","DOI":"10.3233\/JND-221561","article-title":"California\u2019s experience with SMA newborn screening: A successful path to early intervention","volume":"9","author":"Matteson","year":"2022","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1002\/ajmg.c.32003","article-title":"Georgia state spinal muscular atrophy newborn screening experience: Screening assay performance and early clinical outcomes","volume":"190","author":"Elkins","year":"2022","journal-title":"Am. J. Med. Genet. Part C Semin. Med. Genet."},{"key":"ref_19","doi-asserted-by":"crossref","unstructured":"Hale, J.E., Darras, B.T., Swoboda, K.J., Estrella, E., Chen, J.Y.H., Abbott, M.-A., Hay, B.N., Kumar, B., Counihan, A.M., and Gerstel-Thompson, J. (2021). Massachusetts\u2019 Findings from Statewide Newborn Screening for Spinal Muscular Atrophy. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7020026"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"1340","DOI":"10.1086\/302369","article-title":"Quantitative analysis of survival motor neuron copies: Identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling","volume":"64","author":"Wirth","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"ref_21","doi-asserted-by":"crossref","unstructured":"Aragon-Gawinska, K., Mouraux, C., Dangouloff, T., and Servais, L. (2023). Spinal Muscular Atrophy Treatment in Patients Identified by Newborn Screening\u2014A Systematic Review. Genes, 14.","DOI":"10.3390\/genes14071377"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"2155","DOI":"10.1002\/acn3.51889","article-title":"Combination disease-modifying treatment in spinal muscular atrophy: A proposed classification","volume":"10","author":"Proud","year":"2023","journal-title":"Ann. Clin. Transl. Neurol."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"347","DOI":"10.2217\/cer-2021-0216","article-title":"How does risdiplam compare with other treatments for Types 1\u20133 spinal muscular atrophy: A systematic literature review and indirect treatment comparison","volume":"11","author":"Ribero","year":"2022","journal-title":"J. Comp. Eff. Res."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ejpn.2022.04.006","article-title":"Mid- and long-term (at least 12 months) follow-up of patients with spinal muscular atrophy (SMA) treated with nusinersen, onasemnogene abeparvovec, risdiplam or combination therapies: A systematic review of real-world study data","volume":"39","author":"Erdos","year":"2022","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"2985","DOI":"10.1007\/s12325-023-02520-2","article-title":"A Critical Appraisal of Matching-Adjusted Indirect Comparisons in Spinal Muscular Atrophy","volume":"40","author":"Jiang","year":"2023","journal-title":"Adv. Ther."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1002\/mus.27375","article-title":"Combination therapy with onasemnogene and risdiplam in spinal muscular atrophy type 1","volume":"64","author":"Oechsel","year":"2021","journal-title":"Muscle Nerve"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"640","DOI":"10.1212\/WNL.0000000000008207","article-title":"Combination therapy with nusinersen and AVXS-101 in SMA type 1","volume":"93","author":"Lee","year":"2019","journal-title":"Neurology"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1002\/mus.27034","article-title":"Combination molecular therapies for type 1 spinal muscular atrophy","volume":"62","author":"Harada","year":"2020","journal-title":"Muscle Nerve"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1007\/s40120-023-00444-1","article-title":"Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study","volume":"12","author":"Chiriboga","year":"2023","journal-title":"Neurol. Ther."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"S87","DOI":"10.1016\/j.nmd.2023.07.092","article-title":"P210 Interim results from the RESPOND study evaluating nusinersen in children with spinal muscular atrophy previously treated with onasemnogene abeparvovec","volume":"33","author":"Parsons","year":"2023","journal-title":"Neuromuscul. Disord."}],"container-title":["International Journal of Neonatal Screening"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2409-515X\/10\/3\/58\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T15:37:58Z","timestamp":1760110678000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2409-515X\/10\/3\/58"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8,16]]},"references-count":30,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2024,9]]}},"alternative-id":["ijns10030058"],"URL":"https:\/\/doi.org\/10.3390\/ijns10030058","relation":{},"ISSN":["2409-515X"],"issn-type":[{"value":"2409-515X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,8,16]]}}}