{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T02:34:09Z","timestamp":1793327649088,"version":"4.5.0"},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,9,26]],"date-time":"2024-09-26T00:00:00Z","timestamp":1727308800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,9,26]],"date-time":"2024-09-26T00:00:00Z","timestamp":1727308800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100018935","name":"Universit\u00e4tsklinikum Erlangen","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100018935","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>The introduction of newborn screening (NBS) for spinal muscular atrophy (SMA) has increased the early diagnosis of 5q-associated SMA in presymptomatic and symptomatic preterm infants. National and international recommendations for treating preterms and newborns\u2009&lt;\u200938 weeks of gestational age are unavailable. Our retrospective multicentre study aimed to evaluate the postnatal clinical course of preterm infants with 5q-associated SMA diagnosed since the implementation of NBS in Germany in 2021 and to summarize the German experience regarding the decision-making process for available treatment regimens for preterm infants with \u2264\u20093 survival of motor neuron 2 (<jats:italic>SMN2<\/jats:italic>) copies.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Twelve preterm infants with 5q-associated SMA and a mean gestational age of 34.0 weeks (range: 26.1\u201336.8) and birth weight of 2022\u00a0g (range: 645\u20133370) were reported from 8\/20 German SMA NBS follow-up centers using a pseudonymized questionnaire. Confirmatory diagnosis, including <jats:italic>SMN2<\/jats:italic> copy number, was completed on average on postnatal day 13. All patients had a biallelic deletion of exon 7 or exons 7 and 8 of the survival of motor neuron 1 (<jats:italic>SMN1<\/jats:italic>) gene, with SMN2 copy numbers of two in 10 patients and three in two patients. The neonatal course was complicated by respiratory distress due to prematurity (<jats:italic>n<\/jats:italic>\u2009=\u20092), sepsis (<jats:italic>n<\/jats:italic>\u2009=\u20092), and jaundice (<jats:italic>n<\/jats:italic>\u2009=\u20092). At birth, 11 preterm infants (91.6%) were presymptomatic. However, the neurological status of one patient deteriorated at five weeks of age (postconceptional age of 41.8 weeks) prior to the start of treatment. Disease-modifying treatments were initiated in all patients at a mean postconceptional age of 38.8 weeks, with the majority receiving onasemnogene abeparvovec (83.3%, including 2 patients with prior risdiplam bridge therapy). Notably, consensus among participating experts from German neuromuscular centers resulted in 83.3% of patients receiving disease-modifying treatment at term.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>Premature infants with SMA require interdisciplinary care in close collaboration with the neuromuscular center. SMA NBS facilitates early initiation of disease-modifying therapy, ideally during the presymptomatic phase, which significantly influences the prognosis of the newborn.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13023-024-03362-z","type":"journal-article","created":{"date-parts":[[2024,9,27]],"date-time":"2024-09-27T04:02:00Z","timestamp":1727409720000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Postnatal management of preterm infants with spinal muscular atrophy: experience from German newborn screening"],"prefix":"10.1186","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6031-8537","authenticated-orcid":false,"given":"Regina","family":"Trollmann","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessika","family":"Johannsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katharina","family":"Vill","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cornelia","family":"K\u00f6hler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Hahn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine","family":"Illsinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Astrid","family":"Pechmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maja von der","family":"Hagen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolfgang","family":"M\u00fcller-Felber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,9,26]]},"reference":[{"key":"3362_CR1","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1016\/j.nmd.2017.11.005","volume":"28","author":"E Mercuri","year":"2018","unstructured":"Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M, et al. Diagnosis and management of spinal muscular atrophy: part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord. 2018;28:103\u201315. https:\/\/doi.org\/10.1016\/j.nmd.2017.11.005.","journal-title":"Neuromuscul Disord"},{"key":"3362_CR2","doi-asserted-by":"publisher","first-page":"4817","DOI":"10.1172\/JCI124120","volume":"129","author":"DM Ramos","year":"2019","unstructured":"Ramos DM, d\u2019Ydewalle C, Gabbeta V, Dakka A, Klein SK, Norris DA, et al. Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatment. J Clin Invest. 2019;129:4817\u201331. https:\/\/doi.org\/10.1172\/JCI124120.","journal-title":"J Clin Invest"},{"key":"3362_CR3","doi-asserted-by":"publisher","first-page":"161","DOI":"10.3389\/fmolb.2019.00161","volume":"6","author":"MP Thelen","year":"2020","unstructured":"Thelen MP, Kye MJ. The role of RNA binding proteins for local mRNA translation: implications in neurological disorders. 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The study was performed according to the principles of Good Clinical Practice.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Local ethics committee of the FAU Erlangen-N\u00fcrnberg.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"<i>RT<\/i> received honoraria and personal lecture fees from Eisai, Desitin, Roche, Sanofi, and Biogen. <i>JJ<\/i> received compensation for advisory boards and funding for travel or speaker honoraria from Avexis\/Novartis, Biogen, PTC, Pfizer, Roche, Santhera Pharmaceuticals and Sarepta Therapeutics. <i>KV<\/i> reported personal fees from Biogen, Novartis, Santhera and ITF Pharma. <i>AH<\/i> received honoraria for lectures and participation at advisory boards from Roche, Novartis, and Biogen. <i>SI<\/i> received honoraria and lecture fees from Novartis and Roche. CK has received compensation for advisory boards and speaker honoraria from Biogen, Roche, Pfizer, Novartis, and Santhera. <i>AP<\/i> reports research grants from Novartis, Biogen, and Roche. <i>MvdH<\/i> has been a member of the scientific advisory boards for Avexis, Biogen, Novartis, Pfizer, Roche and received travel expenses and lecture fees from Avexis, Novartis, Pfizer and Roche. <i>WMF<\/i> reported compensation for advisory boards and speaker honoraria Novartis, Roche, Biogen, PTC Therapeutics, Sarepta, Sanofi and Italfarmaco. No other disclosures were reported.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"353"}}