{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T04:40:54Z","timestamp":1759812054527,"version":"build-2065373602"},"reference-count":31,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T00:00:00Z","timestamp":1759622400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100013392","name":"Minist\u00e8re de la Sant\u00e9 et des Services Sociaux","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100013392","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Canada Graduate Scholarships-Master\u2019s (CGS M) award from the Canadian Institutes of Health Research (CIHR), and Fonds de Recherche Sant\u00e9 du Qu\u00e9bec (FRQS) Master\u2019s Research Scholarship"}],"content-domain":{"domain":["www.mdpi.com"],"crossmark-restriction":true},"short-container-title":["IJNS"],"abstract":"<jats:p>Clinical trials in spinal muscular atrophy (SMA) have shown that early treatment improves outcomes, prompting inclusion in newborn screening (NBS) programs worldwide. The province of Quebec launched its SMA NBS program in October 2023, with a rapidly progressive implementation. We describe the program\u2019s first-year experience, focusing on screening yield, birth prevalence, clinical outcomes, and challenges. In the first year, 6 of 67,933 newborns screened positive for SMA, all subsequently confirmed by diagnostic testing. Of these, 4 newborns (67%) had two SMN2 copies and 2 newborns (33%) had four copies. Additionally, one symptomatic compound heterozygote infant presented during this period, indicating a provincial birth prevalence of 1 in 9705 live births (95% CI: 1:20,032\u20131:4701). Two newborns with two SMN2 copies were symptomatic at initial consultation; one transitioned to palliative care and died at 43 days of life. Surviving newborns initiated treatment at a median age of 30 days (range: 9\u2013103 days), with four receiving onasemnogene abeparvovec and one nusinersen. Motor outcomes at three or six months were stable or improved among treated infants. Overall, the Quebec SMA NBS pilot program successfully identified affected newborns, facilitated early access to therapy, and provided the first provincial estimate of SMA birth prevalence. Improved sample shipping and processing times are needed to maximize the program\u2019s impact, which is expected with full automation.<\/jats:p>","DOI":"10.3390\/ijns11040089","type":"journal-article","created":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T15:05:06Z","timestamp":1759763106000},"page":"89","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Quebec Spinal Muscular Atrophy Newborn Screening Program: The First Year Experience"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6459-271X","authenticated-orcid":false,"given":"Emilie","family":"Groulx-Boivin","sequence":"first","affiliation":[{"name":"Departments of Pediatrics and Neurology & Neurosurgery, Montreal Children\u2019s Hospital, McGill University, Montreal, QC H4A 3H9, Canada"},{"name":"Research Institute, McGill University Health Centre, Montreal, QC H4A 3J1, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-3891-1254","authenticated-orcid":false,"given":"Ariane","family":"Belzile","sequence":"additional","affiliation":[{"name":"Research Institute, McGill University Health Centre, Montreal, QC H4A 3J1, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cam-Tu \u00c9milie","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Department of Neurosciences and Pediatrics, Division of Pediatric Neurology, Centre Hospitalier Universitaire Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Am\u00e9lie","family":"Gauthier","sequence":"additional","affiliation":[{"name":"Department of Neurosciences and Pediatrics, Division of Pediatric Neurology, Centre Hospitalier Universitaire Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicolas","family":"Chrestian","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Neurology, Centre M\u00e8re-Enfant Soleil, Laval University, Quebec City, QC G1V 0E8, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine","family":"Michaud-Gosselin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Neurology, Centre M\u00e8re-Enfant Soleil, Laval University, Quebec City, QC G1V 0E8, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yves","family":"Gigu\u00e8re","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology, Medical Biochemistry and Pathology, Faculty of Medicine, Laval University, Quebec City, QC G1V 0A6, Canada"},{"name":"Newborn Screening of Quebec Province, Department of Medical Biology, CHU de Qu\u00e9bec-Universit\u00e9 Laval, Quebec City, QC G1V 4G2, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie-Th\u00e9r\u00e8se","family":"Berthier","sequence":"additional","affiliation":[{"name":"Newborn Screening of Quebec Province, Department of Medical Biology, CHU de Qu\u00e9bec-Universit\u00e9 Laval, Quebec City, QC G1V 4G2, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean-Fran\u00e7ois","family":"Soucy","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics, Centre Hospitalier Universitaire Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada"},{"name":"OPTILAB Montr\u00e9al\u2014CHU Sainte-Justine, Centre Hospitalier Universitaire Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne-Marie","family":"Laberge","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics, Centre Hospitalier Universitaire Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1042-0108","authenticated-orcid":false,"given":"Maryam","family":"Oskoui","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Neurology & Neurosurgery, Montreal Children\u2019s Hospital, McGill University, Montreal, QC H4A 3H9, Canada"},{"name":"Research Institute, McGill University Health Centre, Montreal, QC H4A 3J1, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,10,5]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Aragon-Gawinska, K., Mouraux, C., Dangouloff, T., and Servais, L. 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