{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T00:49:06Z","timestamp":1793148546189,"version":"4.5.0"},"reference-count":57,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T00:00:00Z","timestamp":1783382400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100005614","name":"Biogen","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100005614","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJNS"],"abstract":"<jats:p>5q spinal muscular atrophy (5q-SMA) is a leading genetic cause of infant mortality. Presymptomatic intervention with disease-modifying therapies significantly improves motor outcomes, but effectiveness depends on early detection through newborn screening (NBS). Despite global 5q-SMA NBS expansion and recent Brazilian federal legislation, regional disparities and a lack of systematic monitoring hinder access to timely diagnosis and care. This study addresses these gaps by evaluating a statewide pilot program in S\u00e3o Paulo. We used multiplex real-time PCR to detect SMN1 exon 7 deletions in dried blood spots, confirming SMN1\/2 copy numbers via MLPA in positive cases. Under real-world conditions, timeliness key performance indicators were evaluated to assess operational efficiency. 194,714 newborns were screened with 14 positive cases, yielding a prevalence of 1:13,908. First-tier results and treatment initiation occurred at a median of 10.8 and 28 days of life, respectively. Notably, 78.6% of patients had two SMN2 copies, of which approximately half were symptomatic by the first evaluation, highlighting the critical need for rapid screening to prevent irreversible motor decline. Screening achieved 100% specificity. This pilot demonstrates the feasibility of 5q-SMA NBS within the Brazilian public health system, providing essential evidence to overcome logistical and socioeconomic barriers and support nationwide expansion.<\/jats:p>","DOI":"10.3390\/ijns12030050","type":"journal-article","created":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T08:04:49Z","timestamp":1783411489000},"page":"50","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Expanding 5q-SMA Newborn Screening in Latin America: A Brazilian Model for National and Regional Implementation"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7282-5982","authenticated-orcid":false,"given":"Diogo","family":"Nani","sequence":"first","affiliation":[{"name":"Newborn Screening Reference Service, Instituto J\u00f4 Clemente (IJC), S\u00e3o Paulo 04040-033, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7520-3353","authenticated-orcid":false,"given":"Rodrigo Holanda","family":"Mendon\u00e7a","sequence":"additional","affiliation":[{"name":"Department of Neurology, Faculty of Medicine, University of S\u00e3o Paulo (FMUSP), S\u00e3o Paulo 05403-010, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8318-9766","authenticated-orcid":false,"given":"Felipe Franco","family":"da Gra\u00e7a","sequence":"additional","affiliation":[{"name":"Department of Neurology, Faculty of Medical Sciences, State University of Campinas (UNICAMP), Campinas 13083-888, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vitoria Regia Pereira","family":"Pinheiro","sequence":"additional","affiliation":[{"name":"Integrated Center for Oncohematological Research in Childhood, State University of Campinas (CIPOI\/UNICAMP), Campinas 13083-894, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirella","family":"Carneireiro","sequence":"additional","affiliation":[{"name":"Newborn Screening Reference Service, Instituto J\u00f4 Clemente (IJC), S\u00e3o Paulo 04040-033, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruna Glaucia","family":"Farah","sequence":"additional","affiliation":[{"name":"Newborn Screening Reference Service, Instituto J\u00f4 Clemente (IJC), S\u00e3o Paulo 04040-033, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr.","given":"Marcondes Cavalcante","family":"Fran\u00e7a","sequence":"additional","affiliation":[{"name":"Department of Neurology, Faculty of Medical Sciences, State University of Campinas (UNICAMP), Campinas 13083-888, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen Silvia","family":"Gabetta","sequence":"additional","affiliation":[{"name":"Integrated Center for Oncohematological Research in 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Monteiro","family":"Fonseca","sequence":"additional","affiliation":[{"name":"Paulista School of Medicine, Federal University of S\u00e3o Paulo (UNIFESP), S\u00e3o Paulo 04039-060, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paulo","family":"Breinis","sequence":"additional","affiliation":[{"name":"Department of Neurology, School of Medicine of ABC (FMABC), Santo Andr\u00e9 09060-650, Brazil"},{"name":"Irmandade da Santa Casa de Miseric\u00f3rdia de S\u00e3o Paulo, S\u00e3o Paulo 01221-010, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmela Maggiuzzo","family":"Grindler","sequence":"additional","affiliation":[{"name":"Secretaria de Estado da Sa\u00fade de S\u00e3o Paulo, S\u00e3o Paulo 01027-000, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-5716-1905","authenticated-orcid":false,"given":"Carlos Eugenio Fernandez de","family":"Andrade","sequence":"additional","affiliation":[{"name":"Secretaria Municipal da Sa\u00fade de S\u00e3o Paulo, S\u00e3o Paulo 01509-020, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Athene Maria de Marco Fran\u00e7a","family":"Mauro","sequence":"additional","affiliation":[{"name":"Secretaria Municipal da Sa\u00fade de S\u00e3o Paulo, S\u00e3o Paulo 01509-020, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4991-6760","authenticated-orcid":false,"given":"Edmar","family":"Zanoteli","sequence":"additional","affiliation":[{"name":"Department of Neurology, Faculty of Medicine, University of S\u00e3o Paulo (FMUSP), S\u00e3o Paulo 05403-010, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr.","given":"Wilson","family":"Marques","sequence":"additional","affiliation":[{"name":"Ribeir\u00e3o Preto Medical School, University of S\u00e3o Paulo (FMRP-USP), Ribeir\u00e3o Preto 14049-900, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L\u00e9a Maria Zanini","family":"Maciel","sequence":"additional","affiliation":[{"name":"Ribeir\u00e3o Preto Medical School, University of S\u00e3o Paulo (FMRP-USP), Ribeir\u00e3o Preto 14049-900, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6986-4937","authenticated-orcid":false,"given":"Acary Souza Bulle","family":"Oliveira","sequence":"additional","affiliation":[{"name":"Paulista School of Medicine, Federal University of S\u00e3o Paulo (UNIFESP), S\u00e3o Paulo 04039-060, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria da Penha Ananias","family":"Morita","sequence":"additional","affiliation":[{"name":"Hospital de Base, Faculty of Medicine of S\u00e3o Jos\u00e9 do Rio Preto (FAMERP), S\u00e3o Jos\u00e9 do Rio Preto 15090-000, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward","family":"Yang","sequence":"additional","affiliation":[{"name":"Newborn Screening Reference Service, Instituto J\u00f4 Clemente (IJC), S\u00e3o Paulo 04040-033, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8845-5952","authenticated-orcid":false,"given":"Vanessa Luiza Romanelli","family":"Tavares","sequence":"additional","affiliation":[{"name":"Newborn Screening Reference Service, Instituto J\u00f4 Clemente (IJC), S\u00e3o Paulo 04040-033, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,7,7]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1016\/j.ncl.2015.07.004","article-title":"Spinal Muscular Atrophy","volume":"33","author":"Kolb","year":"2015","journal-title":"Neurol. 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