{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T22:07:58Z","timestamp":1783462078609,"version":"3.55.0"},"reference-count":101,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2024,6,29]],"date-time":"2024-06-29T00:00:00Z","timestamp":1719619200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>In recent years, significant progress has been made in 5q Spinal Muscular Atrophy therapeutics, emphasizing the importance of early diagnosis and intervention for better clinical outcomes. Characterized by spinal cord motor neuron degeneration, 5q-SMA leads to muscle weakness, swallowing difficulties, respiratory insufficiency, and skeletal deformities. Recognizing the pre-symptomatic phases supported by screening and confirmatory genetic tests is crucial for early diagnosis. This work addresses key considerations in implementing 5q-SMA screening within the Brazilian National Newborn Screening Program and explores Brazil\u2019s unique challenges and opportunities, including genetic tests, time-to-patient referral to specialized centers, program follow-up, and treatment algorithms. We aim to guide healthcare professionals and policymakers, facilitating global discussions, including Latin American countries, and knowledge-sharing on this critical subject to improve the care for newborns identified with 5q SMA.<\/jats:p>","DOI":"10.3390\/genes15070858","type":"journal-article","created":{"date-parts":[[2024,7,3]],"date-time":"2024-07-03T06:04:18Z","timestamp":1719986658000},"page":"858","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Integrated Approaches and Practical Recommendations in Patient Care Identified with 5q Spinal Muscular Atrophy through Newborn Screening"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8845-5952","authenticated-orcid":false,"given":"Vanessa L.","family":"Romanelli Tavares","sequence":"first","affiliation":[{"name":"Newborn Screening Reference Center, 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, Faculdade de Medicina, Universidade de S\u00e3o Paulo (FMUSP), S\u00e3o Paulo 05403-010, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mayt\u00ea S.","family":"Toledo","sequence":"additional","affiliation":[{"name":"Newborn Screening Reference Center, Instituto J\u00f4 Clemente (IJC), S\u00e3o Paulo 04040-033, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S\u00f4nia M.","family":"Hadachi","sequence":"additional","affiliation":[{"name":"Newborn Screening Reference Center, Instituto J\u00f4 Clemente (IJC), S\u00e3o Paulo 04040-033, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmela M.","family":"Grindler","sequence":"additional","affiliation":[{"name":"Secretaria de Estado da Sa\u00fade (Governo do Estado de S\u00e3o Paulo), S\u00e3o Paulo 01027-000, 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, Faculdade de Medicina, Universidade de 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":"Hospital das Cl\u00ednicas da Faculdade de Medicina da USP de Ribeir\u00e3o Preto (HC\/FMUSP-RP, S\u00e3o Paulo), Ribeir\u00e3o Preto 14015-010, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6986-4937","authenticated-orcid":false,"given":"Acary S. B.","family":"Oliveira","sequence":"additional","affiliation":[{"name":"Motor Neuron Disease Unit, Division of Neuromuscular Diseases, Federal University of Sao Paulo (UNIFESP), Sao Paulo 04039-060, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paulo","family":"Breinis","sequence":"additional","affiliation":[{"name":"Faculdade de Medicina do ABC, Santo Andr\u00e9 09060-870, Brazil"},{"name":"Department of Pediatric Neurology, Irmandade da Santa Casa de Miseric\u00f3rdia de S\u00e3o Paulo, S\u00e3o Paulo 01221-010, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria da P. A.","family":"Morita","sequence":"additional","affiliation":[{"name":"Hospital de Base de S\u00e3o Jos\u00e9 do Rio Preto, S\u00e3o Jos\u00e9 do Rio Preto 15090-000, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr.","given":"Marcondes C.","family":"Fran\u00e7a","sequence":"additional","affiliation":[{"name":"Department of Neurology, Universidade Estadual de Campinas (UNICAMP), Campinas 13083-888, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,6,29]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1002\/(SICI)1098-1004(200003)15:3<228::AID-HUMU3>3.0.CO;2-9","article-title":"An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)","volume":"15","author":"Wirth","year":"2000","journal-title":"Hum. Mutat."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","article-title":"Identification and Characterization of a Spinal Muscular Atrophy-Determining Gene","volume":"80","author":"Lefebvre","year":"1995","journal-title":"Cell"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"339","DOI":"10.2174\/1389202919666180101154916","article-title":"Molecular Factors Involved in Spinal Muscular Atrophy Pathways as Possible Disease-modifying Candidates","volume":"19","author":"Maretina","year":"2018","journal-title":"Curr. Genom."},{"key":"ref_4","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. Clin."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1038\/344540a0","article-title":"Genetic Mapping of Chronic Childhood-Onset Spinal Muscular Atrophy to Chromosome 5q1 1.2-13.3","volume":"344","author":"Brzustowicz","year":"1990","journal-title":"Nature"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1002\/mus.24497","article-title":"Spinal Muscular Atrophy: Diagnosis and Management in a New Therapeutic Era","volume":"51","author":"Arnold","year":"2015","journal-title":"Muscle Nerve"},{"key":"ref_7","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_8","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_9","doi-asserted-by":"crossref","first-page":"944","DOI":"10.1016\/j.ejpn.2018.08.009","article-title":"Prenatal Aspects in Spinal Muscular Atrophy: From Early Detection to Early Pre-symptomatic Intervention","volume":"22","author":"Tizzano","year":"2018","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"ref_10","doi-asserted-by":"crossref","unstructured":"Nishio, H., Niba, E.T.E., Saito, T., Okamoto, K., Takeshima, Y., and Awano, H. (2023). Spinal Muscular Atrophy: The Past, Present, and Future of Diagnosis and Treatment. Int. J. Mol. Sci., 24.","DOI":"10.3390\/ijms241511939"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1136\/archdischild-2021-323605","article-title":"New Treatments in Spinal Muscular Atrophy","volume":"108","author":"Gowda","year":"2023","journal-title":"Arch. Dis. Child."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1016\/j.nmd.2021.03.007","article-title":"Newborn Screening Programs for Spinal Muscular Atrophy Worldwide: Where We Stand and Where to Go","volume":"31","author":"Dangouloff","year":"2021","journal-title":"Neuromuscul. Disord."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"19922","DOI":"10.1038\/s41598-021-99496-2","article-title":"Three Years Pilot of Spinal Muscular Atrophy Newborn Screening Turned into Official Program in Southern Belgium","volume":"11","author":"Boemer","year":"2021","journal-title":"Sci. Rep."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"2018","DOI":"10.3390\/ijns7030033","article-title":"Landscape of Spinal Muscular Atrophy Newborn Screening in the United States: 2018\u20132021","volume":"7","author":"Hale","year":"2021","journal-title":"Int. J. Neonatal Screen."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1017\/cjn.2020.229","article-title":"Newborn Screening for Spinal Muscular Atrophy: Ontario Testing and Follow-up Recommendations","volume":"48","author":"Yeh","year":"2021","journal-title":"Can. J. Neurol. Sci."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1186\/s13023-021-01783-8","article-title":"Newborn Screening for Spinal Muscular Atrophy in Germany: Clinical Results after 2 Years","volume":"16","author":"Vill","year":"2021","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"697","DOI":"10.1136\/jmg-2022-108873","article-title":"Experience of a 2-Year Spinal Muscular Atrophy NBS Pilot Study in Italy: Towards Specific Guidelines and Standard Operating Procedures for the Molecular Diagnosis","volume":"60","author":"Abiusi","year":"2023","journal-title":"J. Med. Genet."},{"key":"ref_18","doi-asserted-by":"crossref","unstructured":"Gailite, L., Sterna, O., Konika, M., Isakovs, A., Isakova, J., Micule, I., Setlere, S., Diriks, M., and Auzenbaha, M. (2022). NewBorn Screening for Spinal Muscular Atrophy: Results of a Latvian Pilot Study. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8010015"},{"key":"ref_19","doi-asserted-by":"crossref","unstructured":"Mikhalchuk, K., Shchagina, O., Chukhrova, A., Zabnenkova, V., Chausova, P., Ryadninskaya, N., Vlodavets, D., Kutsev, S.I., and Polyakov, A. (2023). Pilot Program of Newborn Screening for 5q Spinal Muscular Atrophy in the Russian Federation. Int. J. Neonatal Screen., 9.","DOI":"10.3390\/ijns9020029"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1590\/S1413-81232010000200026","article-title":"Neonatal Screening\u2014The Challenge of an Universal and Effective Coverage","volume":"15","author":"Botler","year":"2010","journal-title":"Cienc. e Saude Coletiva"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1038\/gt.2017.68","article-title":"Management of Neuromuscular Diseases and Spinal Muscular Atrophy in Latin America","volume":"24","author":"Monges","year":"2017","journal-title":"Gene Ther."},{"key":"ref_22","doi-asserted-by":"crossref","unstructured":"Romanelli Tavares, V.L., Monfardini, F., Louren\u00e7o, N.C.V., da Rocha, K.M., Weinmann, K., Pavanello, R., and Zatz, M. (2021). Newborn Screening for 5q Spinal Muscular Atrophy: Comparisons between Real-Time PCR Methodologies and Cost Estimations for Future Implementation Programs. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7030053"},{"key":"ref_23","doi-asserted-by":"crossref","unstructured":"Giugliani, R., Taucher, S.C., Hafez, S., Oliveira, J.B., Rico-restrepo, M., Rozenfeld, P., Zarante, I., and Gonzaga-jauregui, C. (2022). Opportunities and Challenges for Newborn Screening and Early Diagnosis of Rare Diseases in Latin America. Front. Genet., 13.","DOI":"10.3389\/fgene.2022.1053559"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1007\/s10545-007-0669-9","article-title":"Newborn Screening in Latin America at the Beginning of the 21st Century","volume":"30","author":"Borrajo","year":"2007","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_25","doi-asserted-by":"crossref","unstructured":"Cabello, J.F., Novoa, F., Huff, H.V., and Colombo, M. (2021). Expanded Newborn Screening and Genomic Sequencing in Latin America and the Resulting Social Justice and Ethical Considerations. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7010006"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1590\/0004-282x20190073","article-title":"Observations from a Nationwide Vigilance Program in Medical Care for Spinal Muscular Atrophy Patients in Chile","volume":"77","author":"Alvarez","year":"2019","journal-title":"Arq. Neuropsiquiatr."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1177\/10253823070140010201x","article-title":"Health Promotion in Brazil","volume":"14","author":"Westphal","year":"2007","journal-title":"Promot. Educ."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"127","DOI":"10.5965\/2175180304012012127","article-title":"O Povo Novo Brasileiro: Mesti\u00e7agem e Identidade No Pensamento de Darcy Ribeiro","volume":"4","author":"Giarola","year":"2012","journal-title":"Tempo e Argumento"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1038\/s41597-023-02305-w","article-title":"High-Resolution Gridded Population Datasets for Latin America and the Caribbean Using Official Statistics","volume":"10","author":"McKeen","year":"2023","journal-title":"Sci. Data"},{"key":"ref_30","unstructured":"(2024, May 20). Worldometer, Latin America and the Caribbean Population (Live). Available online: https:\/\/www.worldometers.info\/world-population\/latin-america-and-the-caribbean-population\/."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"1","DOI":"10.26633\/RPSP.2019.2","article-title":"Opinion and Analysis A Consensus Statement on Birth Defects Surveillance, Prevention, and Care in Latin America and the Caribbean on Behalf of the 8th International Conference on Birth Defects and Disabilities in the Developing World","volume":"43","author":"Zarante","year":"2019","journal-title":"Rev. Panam. Salud P\u00fablica"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1002\/ajmg.c.31899","article-title":"Newborn Screening in Latin America: A Brief Overview of the State of the Art","volume":"187","author":"Borrajo","year":"2021","journal-title":"Am. J. Med. Genet. Part C Semin. Med. Genet."},{"key":"ref_33","first-page":"282","article-title":"Fenilceton\u00faria: Aspectos Gen\u00e9ticos, Diagn\u00f3stico e Tratamento","volume":"14","author":"Trov","year":"2016","journal-title":"Rev. Soc. Bras. Clin. Med."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"57","DOI":"10.18233\/APM39No6pp57S-65S1722","article-title":"Avances y Logros Del Programa de Tamiz Metab\u00f3lico Neonatal (2012\u20132018)","volume":"39","year":"2018","journal-title":"Acta Pedi\u00e1trica M\u00e9xico"},{"key":"ref_35","unstructured":"De C\u00e9spedes, C., Trejo, R., Uma\u00f1a, L., Artavia, E., Casco, T., Rodr\u00edguez, S., and Cunningham, L. (2024, May 20). Tamizaje Neonatal Masivo de Hipotiroidismo Cong\u00e9nito y Enfermedades Metab\u00f3licas Hereditarias En Costa Rica: 1990\u20131995. Revista costarricense de salud P\u00fablica. 1996; 1\u201312. Available online: https:\/\/repositorio.binasss.sa.cr\/repositorio\/handle\/20.500.11764\/3184."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"306","DOI":"10.4067\/S0717-75182017000400306","article-title":"Avance En El Programa de Pesquisa Neonatal y Prevenci\u00f3n de Retardo Mental Chileno: Actualidad y Proyecciones","volume":"44","author":"Cornejo","year":"2017","journal-title":"Rev. Chil. Nutr."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1007\/s12687-021-00506-7","article-title":"Neonatal Screening Program for Five Conditions in Honduras","volume":"12","author":"Buckley","year":"2021","journal-title":"J. Community Genet."},{"key":"ref_38","first-page":"40","article-title":"Pesquisa Neonatal","volume":"83","author":"Lemes","year":"2012","journal-title":"Qu\u00e9 Es La Pesqui. Neonatal"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"21","DOI":"10.18359\/rmed.4195","article-title":"Importancia de Una Propuesta Para La Implementaci\u00f3n de Un Programa de Tamizaje Neonatal Expandido En Colombia","volume":"27","year":"2020","journal-title":"Rev. Med."},{"key":"ref_40","unstructured":"(2024, May 20). PORTARIA No. 822, DE 06 DE JUNHO DE 2001. Minist\u00e9rio da Sa\u00fade, Brazil, Available online: https:\/\/bvsms.saude.gov.br\/bvs\/saudelegis\/gm\/2001\/prt0822_06_06_2001.html."},{"key":"ref_41","first-page":"6","article-title":"Incidencia de La Fibrosis Qu\u00edstica En Paraguay TT-Incidence of Cystic Fibrosis in Paraguay","volume":"46","author":"Ascurra","year":"2019","journal-title":"Pediatr\u00eda"},{"key":"ref_42","first-page":"94","article-title":"Panam\u00e1 En Cifras: Tamizaje Neonatal Metab\u00f3lico 2013 Al 2018. Rev","volume":"51","author":"Cepeda","year":"2022","journal-title":"Pedi\u00e1trica Panam\u00e1"},{"key":"ref_43","first-page":"145","article-title":"Evaluaci\u00f3n Del Desempe\u00f1o Del Programa Nacional de Tamizaje Metab\u00f3lico Neonatal Del Ministerio de Salud P\u00fablica Del Ecuador En El Per\u00edodo Comprendido Desde Enero a Noviembre Del 2014","volume":"4","year":"2015","journal-title":"PUCE"},{"key":"ref_44","unstructured":"(2024, April 10). IBGE\u2014Instituto Brasileiro de Geografia e Estat\u00edstica, Available online: https:\/\/www.ibge.gov.br\/en\/statistics\/social\/population.html."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1053\/j.semperi.2015.03.002","article-title":"Current Status of Newborn Screening Worldwide: 2015","volume":"39","author":"Therrell","year":"2015","journal-title":"Semin. Perinatol."},{"key":"ref_46","unstructured":"(2023, December 10). Senado Federal Legisla\u00e7\u00e3o Federal-Senado Federal. Federal Law 14,154 from 2021. Available online: https:\/\/legis.senado.leg.br\/norma\/34012681."},{"key":"ref_47","unstructured":"Wilson, J.M., and Gunnar, J. (1990). Principles and Practice of Screening for Disease. Rep. Group. Adv. Psychiatry, 10\u201326. Available online: https:\/\/niercheck.nl\/wp-content\/uploads\/2019\/06\/Wilson-Jungner-1968.pdf."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"317","DOI":"10.2471\/BLT.07.050112","article-title":"Revisting Wilson and Jungner in the Genomic Age: A Review of Screening Criteria over the Past 40 Years","volume":"86","author":"Andermann","year":"2008","journal-title":"Bull. World Health Organ."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1016\/j.nmd.2019.02.003","article-title":"Newborn Screening for SMA in Southern Belgium","volume":"29","author":"Boemer","year":"2019","journal-title":"Neuromuscul. Disord."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"55","DOI":"10.3233\/JND-221577","article-title":"Newbornscreening SMA\u2014From Pilot Project to Nationwide Screening in Germany","volume":"10","author":"Blaschek","year":"2023","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_51","unstructured":"Cure SMA (2024, May 20). State for Newborb Screening for SMA. Available online: https:\/\/www.curesma.org\/newborn-screening-for-sma\/."},{"key":"ref_52","doi-asserted-by":"crossref","unstructured":"Kellar-Guenther, Y., McKasson, S., Hale, K., Singh, S., Sontag, M.K., and Ojodu, J. (2020). Implementing Statewide Newborn Screening for New Disorders: U.S. Program Experiences. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6020035"},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1038\/s41436-019-0673-0","article-title":"The Implementation of Newborn Screening for Spinal Muscular Atrophy: The Australian Experience","volume":"22","author":"Kariyawasam","year":"2020","journal-title":"Genet. Med."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1111\/dmcn.15117","article-title":"Integrating Newborn Screening for Spinal Muscular Atrophy into Health Care Systems: An Australian Pilot Programme","volume":"64","author":"Kariyawasam","year":"2022","journal-title":"Dev. Med. Child Neurol."},{"key":"ref_55","doi-asserted-by":"crossref","unstructured":"Niri, F., Nicholls, J., Baptista Wyatt, K., Walker, C., Price, T., Kelln, R., Hume, S., Parboosingh, J., Lilley, M., and Kolski, H. (2023). Alberta Spinal Muscular Atrophy Newborn Screening\u2014Results from Year 1 Pilot Project. Int. J. Neonatal Screen., 9.","DOI":"10.3390\/ijns9030042"},{"key":"ref_56","doi-asserted-by":"crossref","unstructured":"Lin, Y., Lin, C.H., Yin, X., Zhu, L., Yang, J., Shen, Y., Yang, C., Chen, X., Hu, H., and Ma, Q. (2019). Newborn Screening for Spinal Muscular Atrophy in China Using DNA Mass Spectrometry. Front. Genet., 10.","DOI":"10.3389\/fgene.2019.01255"},{"key":"ref_57","doi-asserted-by":"crossref","unstructured":"Kimizu, T., Ida, S., Okamoto, K., Awano, H., Niba, E.T.E., Wijaya, Y.O.S., Okazaki, S., Shimomura, H., Lee, T., and Tominaga, K. (2021). Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7030045"},{"key":"ref_58","doi-asserted-by":"crossref","unstructured":"Fonseca, H., Ribeiro, D., Guimar\u00e3es, F., Pinto, C., Marc\u00e3o, A., Sousa, C., Carvalho, I., Lopes, L., Rodrigues, D., and Rocha, H. (2023). Pilot Study on Newborn Screening for Spinal Muscular Atrophy. Endocr. Metab. Immune Disord. Drug Targets, 23.","DOI":"10.2174\/1871530323666230914122955"},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1016\/j.jpeds.2017.06.042","article-title":"Pre-symptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening","volume":"190","author":"Chien","year":"2017","journal-title":"J. Pediatr."},{"key":"ref_60","doi-asserted-by":"crossref","unstructured":"Ferreira, A.F.C., Paredes, E.T.A., Ara\u00fajo, M.R., and de Atrofia Muscular Espinhal (AME) (2022). T\u00f3picos Especiais em Ci\u00eancias da Sa\u00fade: Teoria, M\u00e9todos e Pr\u00e1ticas 9, AYA Editora.","DOI":"10.47573\/aya.5379.2.137.24"},{"key":"ref_61","unstructured":"Instituto J\u00f4 Clemente (IJC) (2023). Annual Report 2022, Insituto J\u00f4 Clemente. Available online: https:\/\/ijc.org.br\/Paginas\/relatorio-de-atividades.aspx."},{"key":"ref_62","unstructured":"(2023, December 10). Secretaria de Estado da Sa\u00fade Servi\u00e7os de Refer\u00eancia de Triagem Neonatal, Available online: https:\/\/www.saude.sp.gov.br\/ses\/perfil\/profissional-da-saude\/areas-tecnicas-da-sessp\/doencas-raras\/servicos-de-referencia-de-triagem-neonatal."},{"key":"ref_63","doi-asserted-by":"crossref","unstructured":"Netto, O., Brinckmann, A., Lemos, J.F., Pasetto, F.B., Brasil, C.S., Trapp, F.B., Saute, J.A.M., Donis, K.C., Becker, M.M., and Wiest, P. (2023). Neonatal screening for spinal muscular atrophy: A pilot study in Brazil. Genet. Mol. Biol., 46.","DOI":"10.1590\/1678-4685-gmb-2023-0126"},{"key":"ref_64","unstructured":"Romanelli Tavares, V.L., Fran\u00e7a, M.C.J., Oliveira, A.S.B., Grindler, C.M., Zanotelli, E., Morita, M.P.A., Breinis, P., Mendon\u00e7a, R.H., Hadachi, S.M., and Marques Junior, W. (2023). Guia de Orienta\u00e7\u00e3o para Diagn\u00f3stico, Seguimento e Tratamento de Pacientes com Atrofia Muscular Espinhal 5q Identificados por Triagem Neonatal, Instituto J\u00f4 Clemente (IJC)."},{"key":"ref_65","unstructured":"(2024, May 26). MRC Holland SALSA MLPA Probemix P021 SMA. Product Description Version B1-06; Issued 11 July 2022. Available online: https:\/\/www.mrcholland.com\/products\/32314\/Product%20description%20P021-B1%20SMA-v06.pdf."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"608","DOI":"10.1038\/gim.2017.152","article-title":"Pilot Study of Population-Based Newborn Screening for Spinal Muscular Atrophy in New York State","volume":"20","author":"Kraszewski","year":"2018","journal-title":"Genet. Med."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"1296","DOI":"10.1038\/s41436-020-0824-3","article-title":"Implementation of Population-Based Newborn Screening Reveals Low Incidence of Spinal Muscular Atrophy","volume":"22","author":"Kay","year":"2020","journal-title":"Genet. Med."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"1753","DOI":"10.1373\/clinchem.2018.293712","article-title":"Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular Atrophy","volume":"64","author":"Gavrilov","year":"2018","journal-title":"Clin. Chem."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"117708","DOI":"10.1016\/j.cca.2023.117708","article-title":"Comparison of the accuracy of multiplex digital PCR versus multiplex ligation-dependent probe amplification in quantification of the survival of motor neuron genes copy numbers","volume":"553","author":"Yu","year":"2024","journal-title":"Clin. Chim. Acta Int. J. Clin. Chem."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1212\/WNL.0000000000007836","article-title":"Discrepancy in redetermination of SMN2 copy numbers in children with SMA","volume":"93","author":"Schorling","year":"2019","journal-title":"Neurology"},{"key":"ref_71","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_72","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1089\/gtmb.2020.0085","article-title":"Intelligent Ratio: A New Method for Carrier and Newborn Screening in Spinal Muscular Atrophy","volume":"24","author":"Cavdarli","year":"2020","journal-title":"Genet. Test. Mol. Biomarkers"},{"key":"ref_73","unstructured":"Minist\u00e9rio da Sa\u00fade (2023, December 10). Triagem Neonatal Biol\u00f3gica, Available online: https:\/\/bvsms.saude.gov.br\/bvs\/publicacoes\/triagem_neonatal_biologica_manual_tecnico.pdf?term=revalida."},{"key":"ref_74","first-page":"263","article-title":"Spinal Muscular Atrophy (5qSMA): Best Practice of Diagnostics, Newborn Screening and Therapy","volume":"32","author":"Eggermann","year":"2020","journal-title":"Med. Genet."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"3245","DOI":"10.3390\/ijms13033245","article-title":"Use of the MLPA Assay in the Molecular Diagnosis of Gene Copy Number Alterations in Human Genetic Diseases","volume":"13","author":"Stuppia","year":"2012","journal-title":"Int. J. Mol. Sci."},{"key":"ref_76","doi-asserted-by":"crossref","unstructured":"Milligan, J.N., Blasco-P\u00e9rez, L., Costa-Roger, M., Codina-Sol\u00e0, M., and Tizzano, E.F. (2022). Recommendations for Interpreting and Reporting Silent Carrier and Disease-Modifying Variants in SMA Testing Workflows. Genes, 13.","DOI":"10.3390\/genes13091657"},{"key":"ref_77","first-page":"7S9","article-title":"Molecular diagnosis and genetic counseling for spinal muscular atrophy (SMA)","volume":"27","author":"Rouzier","year":"2020","journal-title":"Arch. De Pediatr. Organe Off. De La Soc. Fr. De Pediatr."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"1774","DOI":"10.1038\/s41431-019-0415-4","article-title":"Perspectives in genetic counseling for spinal muscular atrophy in the new therapeutic era: Early pre-symptomatic intervention and test in minors","volume":"27","author":"Tizzano","year":"2019","journal-title":"Eur. J. Hum. Genet. EJHG"},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"11","DOI":"10.2147\/TACG.S239603","article-title":"Spinal Muscular Atrophy: Mutations, Testing, and Clinical Relevance","volume":"14","author":"Keinath","year":"2021","journal-title":"Appl. Clin. Genet."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"e530","DOI":"10.1212\/NXG.0000000000000530","article-title":"Practical Guidelines to Manage Discordant Situations of SMN2 Copy Number in Patients with Spinal Muscular Atrophy","volume":"6","author":"Bernal","year":"2020","journal-title":"Neurol. Genet."},{"key":"ref_81","unstructured":"(2023, November 28). Di\u00e1rio Oficial do Estado de S\u00e3o Paulo. Secretaria da Sa\u00fade. Resolu\u00e7\u00e3o SS 89 de 20 September 2019. Available online: https:\/\/ses.sp.bvs.br\/wp-content\/uploads\/2021\/09\/E_R-SS-89_200919.pdf."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"487","DOI":"10.3233\/JND-160177","article-title":"Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients","volume":"3","author":"Grotto","year":"2016","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_83","first-page":"816","article-title":"Calado, A.P.; Van Der Linden, V.; Bello, M.A.F.C.; Andrade, L.B. de Vers\u00e3o Brasileira Da Escala CHOP INTEND: Adapta\u00e7\u00e3o Transcultural e Valida\u00e7\u00e3o","volume":"81","author":"Alves","year":"2023","journal-title":"Arq. Neuropsiquiatr."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"498","DOI":"10.1016\/j.nmd.2021.02.019","article-title":"Motor Unit Number Index (MUNIX) in Children and Adults with 5q-Spinal Muscular Atrophy: Variability and Clinical Correlations","volume":"31","author":"Machado","year":"2021","journal-title":"Neuromuscul. Disord."},{"key":"ref_85","first-page":"1","article-title":"Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophy. Consenso da Academia Brasileira de Neurologia para diagn\u00f3stico, aconselhamento gen\u00e9tico e uso de terapias modificadoras na atrofia muscular espinhal 5q","volume":"82","author":"Zanoteli","year":"2024","journal-title":"Arq. De Neuro-Psiquiatr."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/S2213-2600(17)30344-2","article-title":"Predictors of Enhanced Response with Benralizumab for Patients with Severe Asthma: Pooled Analysis of the SIROCCO and CALIMA Studies","volume":"6","author":"FitzGerald","year":"2018","journal-title":"Lancet Respir. Med."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/j.nmd.2017.11.004","article-title":"Diagnosis and Management of Spinal Muscular Atrophy: Part 2: Pulmonary and Acute Care; Medications, Supplements and Immunizations; Other Organ Systems; and Ethics","volume":"28","author":"Finkel","year":"2018","journal-title":"Neuromuscul. Disord."},{"key":"ref_88","first-page":"1","article-title":"Spinal Muscular Atrophy: A Modifiable Disease Emerges","volume":"28","author":"Fitzgerald","year":"2018","journal-title":"Paediatr. Respir. Rev."},{"key":"ref_89","unstructured":"(2024, May 20). PORTARIA No. 6, DE 15 DE MAIO DE 2023. Minist\u00e9rio da Sa\u00fade, Secretaria de Aten\u00e7\u00e3o Especializada \u00e0 Sa\u00fade, Secretaria de Ci\u00eancia, Tecnologia, Inova\u00e7\u00e3o e Complexo da Sa\u00fade. Brazil, Available online: https:\/\/www.gov.br\/saude\/pt-br\/assuntos\/pcdt\/arquivos\/2023\/portaria-conjunta-no-6.pdf."},{"key":"ref_90","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_91","doi-asserted-by":"crossref","unstructured":"Mirea, A., Shelby, E.S., Axente, M., Badina, M., Padure, L., Leanca, M., Dima, V., and Sporea, C. (2021). Combination Therapy with Nusinersen and Onasemnogene Abeparvovec-Xioi in Spinal Muscular Atrophy Type I. J. Clin. Med., 10.","DOI":"10.3390\/jcm10235540"},{"key":"ref_92","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_93","unstructured":"(2024, June 23). Minist\u00e9rio da Sa\u00fade: Comiss\u00e3o Nacional de Incorpora\u00e7\u00e3o de Tecnologias no Sistema \u00danico de Sa\u00fade\u2014CONITEC, Available online: https:\/\/www.gov.br\/conitec\/pt-br\/assuntos\/noticias\/2022\/dezembro\/ms-e-novartis-firmam-compromisso-para-elaboracao-do-acordo-de-compartilhamento-de-risco-para-ame."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/j.nmd.2017.11.005","article-title":"Diagnosis and Management of Spinal Muscular Atrophy: Part 1: Recommendations for Diagnosis, Rehabilitation, Orthopedic and Nutritional Care","volume":"28","author":"Mercuri","year":"2018","journal-title":"Neuromuscul. Disord."},{"key":"ref_95","unstructured":"(2024, May 15). Relat\u00f3rio de Recomenda\u00e7\u00e3o. Protocolo Cl\u00ednico e Diretrizes Terap\u00eauticas Atrofia Muscular Espinhal (AME) 5q tipos I e II. Vers\u00e3o Preliminar. Minist\u00e9rio da Sa\u00fade, Available online: https:\/\/www.gov.br\/conitec\/pt-br\/midias\/consultas\/relatorios\/2023\/protocolo-clinico-e-diretrizes-terapeuticas-de-atrofia-muscular-espinhal-ame-5q-tipos-i-e-ii."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"S256","DOI":"10.1097\/GIM.0b013e3181fe5d9c","article-title":"Long-Term Follow-up in Newborn Screening: A Systems Approach for Improving Health Outcomes","volume":"12","author":"Brower","year":"2010","journal-title":"Genet. Med."},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"222","DOI":"10.34019\/1809-8363.2022.v25.34474","article-title":"Revista de APS Triagem Neonatal Biol\u00f3gica Brasileira: Revis\u00e3o Integrativa Brazilian Biological Neonatal Screening: Integrative Review","volume":"25","author":"Kohn","year":"2022","journal-title":"Rev. APS"},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1097\/GIM.0b013e3181fe5d77","article-title":"Newborn Screening Conditions: What We Know, What We Do Not Know, and How We Will Know It","volume":"12","author":"Levy","year":"2010","journal-title":"Genet. Med."},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"e505","DOI":"10.1212\/NXG.0000000000000505","article-title":"Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy","volume":"6","author":"Matsui","year":"2020","journal-title":"Neurol. Genet."},{"key":"ref_100","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_101","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1016\/j.jpeds.2019.12.047","article-title":"Respiratory Needs in Patients with Type 1 Spinal Muscular Atrophy Treated with Nusinersen","volume":"219","author":"Sansone","year":"2020","journal-title":"J. Pediatr."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/15\/7\/858\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T15:07:55Z","timestamp":1760108875000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/15\/7\/858"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,29]]},"references-count":101,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2024,7]]}},"alternative-id":["genes15070858"],"URL":"https:\/\/doi.org\/10.3390\/genes15070858","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,6,29]]}}}