{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T02:45:48Z","timestamp":1790045148039,"version":"4.0.1"},"reference-count":16,"publisher":"American Medical Association (AMA)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JAMA Pediatr"],"published-print":{"date-parts":[[2024,6,1]]},"DOI":"10.1001\/jamapediatrics.2024.0489","type":"journal-article","created":{"date-parts":[[2024,4,8]],"date-time":"2024-04-08T15:01:09Z","timestamp":1712588469000},"page":"520","source":"Crossref","is-referenced-by-count":8,"title":["Universal Newborn Screening for Spinal Muscular Atrophy"],"prefix":"10.1001","volume":"178","author":[{"given":"Maryam","family":"Oskoui","sequence":"first","affiliation":[{"name":"Centre for Outcomes Research and Evaluation, Research Institute of the McGill University Health Center, Montreal, Quebec, Canada"},{"name":"Department of Pediatrics and Neurology & Neurosurgery, McGill University, Montreal, Quebec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamara","family":"Dangouloff","sequence":"additional","affiliation":[{"name":"Division of Child Neurology, Reference Center for Neuromuscular Diseases, Department of Paediatrics, University Hospital Liege & University of Liege, Liege, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurent","family":"Servais","sequence":"additional","affiliation":[{"name":"Division of Child Neurology, Reference Center for Neuromuscular Diseases, Department of Paediatrics, University Hospital Liege & University of Liege, Liege, Belgium"},{"name":"Muscular Dystrophy UK Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"10","reference":[{"issue":"6","key":"ped240006r1","doi-asserted-by":"publisher","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"},{"issue":"7","key":"ped240006r2","doi-asserted-by":"publisher","first-page":"1377","DOI":"10.3390\/genes14071377","article-title":"Spinal muscular atrophy treatment in patients identified by newborn screening: a systematic review.","volume":"14","author":"Aragon-Gawinska","year":"2023","journal-title":"Genes (Basel)"},{"issue":"6","key":"ped240006r3","doi-asserted-by":"publisher","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"},{"issue":"3","key":"ped240006r4","doi-asserted-by":"publisher","first-page":"144","DOI":"10.1212\/WNL.0000000000009907","article-title":"Reader response: discrepancy in redetermination of SMN2 copy numbers in children with SMA.","volume":"95","author":"Dangouloff","year":"2020","journal-title":"Neurology"},{"key":"ped240006r5","doi-asserted-by":"publisher","first-page":"114","DOI":"10.1016\/j.nmd.2023.12.008","article-title":"270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10-12 March, 2023, Hoofddorp, the Netherlands.","volume":"34","author":"Abiusi","year":"2024","journal-title":"Neuromuscul Disord"},{"issue":"7","key":"ped240006r6","doi-asserted-by":"publisher","first-page":"2821","DOI":"10.1007\/s00431-022-04470-3","article-title":"Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening.","volume":"181","author":"Pane","year":"2022","journal-title":"Eur J Pediatr"},{"issue":"8","key":"ped240006r7","doi-asserted-by":"publisher","first-page":"1390","DOI":"10.1016\/j.jval.2021.12.018","article-title":"Development and pilot test of the registry evaluation and quality standards tool: an information technology-based tool to support and review registries.","volume":"25","author":"Allen","year":"2022","journal-title":"Value Health"},{"key":"ped240006r8","doi-asserted-by":"publisher","DOI":"10.1001\/jamapediatrics.2024.0492","article-title":"Clinical effectiveness of newborn screening for spinal muscular atrophy: a nonrandomized controlled trial.","author":"Schwartz","year":"2024","journal-title":"JAMA Pediatr"},{"issue":"1","key":"ped240006r9","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1186\/s13023-021-01695-7","article-title":"Systematic literature review of the economic burden of spinal muscular atrophy and economic evaluations of treatments.","volume":"16","author":"Dangouloff","year":"2021","journal-title":"Orphanet J Rare Dis"},{"issue":"1","key":"ped240006r10","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1111\/dmcn.v65.1","article-title":"Financial cost and quality of life of patients with spinal muscular atrophy identified by symptoms or newborn screening.","volume":"65","author":"Dangouloff","year":"2023","journal-title":"Dev Med Child Neurol"},{"issue":"3","key":"ped240006r11","doi-asserted-by":"publisher","first-page":"45","DOI":"10.3390\/ijns8030045","article-title":"Modelling the cost-effectiveness and budget impact of a newborn screening program for spinal muscular atrophy and severe combined immunodeficiency.","volume":"8","author":"Shih","year":"2022","journal-title":"Int J Neonatal Screen"},{"issue":"12","key":"ped240006r12","doi-asserted-by":"publisher","first-page":"6544","DOI":"10.1007\/s00415-022-11319-0","article-title":"Cost-effectiveness analysis of gene-based therapies for patients with spinal muscular atrophy type I in Australia.","volume":"269","author":"Wang","year":"2022","journal-title":"J Neurol"},{"issue":"4","key":"ped240006r13","doi-asserted-by":"publisher","first-page":"1205","DOI":"10.1007\/s40120-023-00489-2","article-title":"Cost-effectiveness of newborn screening for spinal muscular atrophy in England.","volume":"12","author":"Weidlich","year":"2023","journal-title":"Neurol Ther"},{"key":"ped240006r14","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1016\/j.nmd.2023.11.013","article-title":"Cost-effectiveness of spinal muscular atrophy newborn screening based on real-world data in Belgium.","volume":"34","author":"Dangouloff","year":"2024","journal-title":"Neuromuscul Disord"},{"issue":"10398","key":"ped240006r15","doi-asserted-by":"publisher","first-page":"265","DOI":"10.1016\/S0140-6736(23)01513-1","article-title":"Genomic newborn screening: current concerns and challenges.","volume":"402","author":"The Lancet","year":"2023","journal-title":"Lancet"},{"issue":"4","key":"ped240006r16","doi-asserted-by":"publisher","first-page":"416","DOI":"10.1038\/ejhg.2016.195","article-title":"Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage.","volume":"25","author":"Parks","year":"2017","journal-title":"Eur J Hum Genet"}],"container-title":["JAMA Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/jamanetwork.com\/journals\/jamapediatrics\/articlepdf\/2817306\/jamapediatrics_oskoui_2024_ed_240006_1716226339.63018.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,3]],"date-time":"2024-06-03T15:16:32Z","timestamp":1717427792000},"score":1,"resource":{"primary":{"URL":"https:\/\/jamanetwork.com\/journals\/jamapediatrics\/fullarticle\/2817306"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,1]]},"references-count":16,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2024,6,1]]}},"URL":"https:\/\/doi.org\/10.1001\/jamapediatrics.2024.0489","relation":{},"ISSN":["2168-6203"],"issn-type":[{"value":"2168-6203","type":"print"}],"subject":[],"published":{"date-parts":[[2024,6,1]]}}}