{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T02:34:07Z","timestamp":1793327647045,"version":"4.5.0"},"reference-count":53,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2023,6,29]],"date-time":"2023-06-29T00:00:00Z","timestamp":1687996800000},"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>Background: In spinal muscular atrophy, clinical trial results indicated that disease-modifying treatments are highly effective when given prior to symptom onset, which has prompted newborn screening programs in growing number of countries. However, prognosis of those patients cannot be inferred from clinical trials conducted in presymptomatic individuals, as in some cases disease presents very early. Methods: we conducted a systematic review of articles published up to January 2023. Results: Among 35 patients with three SMN2 copies treated before 42 days of age and followed-up for at least 18 months, all but one achieved autonomous ambulation. Of 41 patients with two SMN2 copies, who were non-symptomatic at treatment initiation, all achieved a sitting position independently and 31 were able to walk. Of 16 patients with two SMN2 copies followed-up for at least 18 months who presented with symptoms at treatment onset, 3 achieved the walking milestone and all but one were able to sit without support. Conclusions: evaluation of data from 18 publications indicates that the results of early treatment depend on the number of SMN2 copies and the initial neurological status of the patient.<\/jats:p>","DOI":"10.3390\/genes14071377","type":"journal-article","created":{"date-parts":[[2023,6,30]],"date-time":"2023-06-30T00:51:06Z","timestamp":1688086266000},"page":"1377","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":100,"title":["Spinal Muscular Atrophy Treatment in Patients Identified by Newborn Screening\u2014A Systematic Review"],"prefix":"10.3390","volume":"14","author":[{"given":"Karolina","family":"Aragon-Gawinska","sequence":"first","affiliation":[{"name":"Department of Neurology, Medical University of Warsaw, 02-097 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9569-9229","authenticated-orcid":false,"given":"Charlotte","family":"Mouraux","sequence":"additional","affiliation":[{"name":"Neuromuscular Reference Center, Department of Pediatrics, University Hospital Li\u00e8ge, University of Li\u00e8ge, 4000 Li\u00e8ge, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamara","family":"Dangouloff","sequence":"additional","affiliation":[{"name":"Neuromuscular Reference Center, Department of Pediatrics, University Hospital Li\u00e8ge, University of Li\u00e8ge, 4000 Li\u00e8ge, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9270-4061","authenticated-orcid":false,"given":"Laurent","family":"Servais","sequence":"additional","affiliation":[{"name":"Neuromuscular Reference Center, Department of Pediatrics, University Hospital Li\u00e8ge, University of Li\u00e8ge, 4000 Li\u00e8ge, Belgium"},{"name":"MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford OX3 0ER, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,6,29]]},"reference":[{"key":"ref_1","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. 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