{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T05:01:45Z","timestamp":1787893305132,"version":"build-2784847793"},"reference-count":37,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2022,11,28]],"date-time":"2022-11-28T00:00:00Z","timestamp":1669593600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2023,1,3]]},"abstract":"<jats:p>\n                    Now that targeted therapies for spinal muscular atrophy are available, attempts are being made worldwide to include screening for spinal muscular atrophy in general newborn screening. In Germany, after pilot projects from 2018\u20132021, it was included in the general newborn screening from October 2021. To ensure a smooth transition, criteria for follow-up were developed together with key stakeholders. At the beginning of the transition to nationwide screening, false positive findings were reported in 3 patients. After optimization of the screening method in the laboratories concerned, all findings have been subsequently confirmed. On average, the first presentation to a neuromuscular center occurred on day 12 of life, and in patients with 2 or 3\n                    <jats:italic>SMN2<\/jats:italic>\n                    copies, therapy started on day 26 of life. Compared with the pilot project, there was no significant delay in timing.\n                  <\/jats:p>","DOI":"10.3233\/jnd-221577","type":"journal-article","created":{"date-parts":[[2022,11,29]],"date-time":"2022-11-29T11:25:30Z","timestamp":1669721130000},"page":"55-65","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":40,"title":["Newbornscreening SMA \u2013 From Pilot Project to Nationwide Screening in Germany"],"prefix":"10.1177","volume":"10","author":[{"given":"Wolfgang","family":"M\u00fcller-Felber","sequence":"first","affiliation":[{"name":"Dr. v. Hauner Children\u2019s Hospital, Department of Pediatric Neurology and Developmental Medicine, LMU \u2013 University of Munich, Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Astrid","family":"Blaschek","sequence":"additional","affiliation":[{"name":"Dr. v. Hauner Children\u2019s Hospital, Department of Pediatric Neurology and Developmental Medicine, LMU \u2013 University of Munich, Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oliver","family":"Schwartz","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Muenster University Hospital, M\u00fcnster, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dieter","family":"Gl\u00e4ser","sequence":"additional","affiliation":[{"name":"MVZ Genetikum GmbH, Center for Human Genetics, Neu-Ulm, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uta","family":"Nennstiel","sequence":"additional","affiliation":[{"name":"Screening Center of the Bavarian Health and Food Safety Authority, Oberschleissheim, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inken","family":"Brockow","sequence":"additional","affiliation":[{"name":"Screening Center of the Bavarian Health and Food Safety Authority, Oberschleissheim, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brunhilde","family":"Wirth","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Center for Molecular Genetics Cologne and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siegfried","family":"Burggraf","sequence":"additional","affiliation":[{"name":"Labor Becker und Kollegen, Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wulf","family":"R\u00f6schinger","sequence":"additional","affiliation":[{"name":"Labor Becker und Kollegen, Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Becker","sequence":"additional","affiliation":[{"name":"Labor Becker und Kollegen, Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00fcrgen","family":"Durner","sequence":"additional","affiliation":[{"name":"Labor Becker und Kollegen, Munich, Germany"},{"name":"Department of Operative\/Restorative Dentistry, Periodontology and Pedodontics, Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen, Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katja","family":"Eggermann","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heike","family":"K\u00f6lbel","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Developmental Neurology and Social Pediatrics, University of Essen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"M\u00fcller","sequence":"additional","affiliation":[{"name":"Dr. v. Hauner Children\u2019s Hospital, Department of Pediatric Neurology and Developmental Medicine, LMU \u2013 University of Munich, Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iris","family":"Hannibal","sequence":"additional","affiliation":[{"name":"Dr. v. Hauner Children\u2019s Hospital, Department of Pediatric Neurology and Developmental Medicine, LMU \u2013 University of Munich, Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernd","family":"Olgem\u00f6ller","sequence":"additional","affiliation":[{"name":"Formerly Labor Becker, Olgem\u00f6ller und Kollegen, Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike","family":"Schara","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Developmental Neurology and Social Pediatrics, University of Essen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arpad","family":"von Moers","sequence":"additional","affiliation":[{"name":"Klinik f\u00fcr Kinder- und Jugendmedizin, Neurop\u00e4diatrie, DRK Klinikum Westend, Berlin, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Regina","family":"Trollmann","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Neurology, Friedrich-Alexander University ofErlangen-N\u00fcrnberg, Erlangen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessika","family":"Johannssen","sequence":"additional","affiliation":[{"name":"University Medical Center Hamburg-Eppendorf, Department of Pediatrics, Hamburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Ziegler","sequence":"additional","affiliation":[{"name":"Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sebahattin","family":"Cirak","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Ulm University, Ulm, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Hahn","sequence":"additional","affiliation":[{"name":"Department of Child Neurology, University Hospital, Gie\u00dfen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maja","family":"von der Hagen","sequence":"additional","affiliation":[{"name":"Abteilung Neurop\u00e4diatrie, Medizinische Fakult\u00e4t Carl Gustav Carus, Technische Universit\u00e4t Dresden, Dresden, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Weiss","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Charit\u00e9\u2013Universit\u00e4tsmedizin Berlin, Berlin, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gudrun","family":"Schreiber","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Klinikum Kassel, Kassel, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Flotats-Bastardas","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, University Hospital Homburg, Homburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans","family":"Hartmann","sequence":"additional","affiliation":[{"name":"Hannover Medical School, Clinic for Pediatric Kidney-, Liver- and Metabolic Diseases, OE, Hannover, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine","family":"Illsinger","sequence":"additional","affiliation":[{"name":"Hannover Medical School, Clinic for Pediatric Kidney-, Liver- and Metabolic Diseases, OE, Hannover, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Astrid","family":"Pechmann","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics and Muscle Disorders, Medical Center \u2013 University of Freiburg, Faculty of Medicine, University of Freiburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronka","family":"Horber","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, University Children\u2019s Hospital, T\u00fcbingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Kirschner","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics and Muscle Disorders, Medical Center \u2013 University of Freiburg, Faculty of Medicine, University of Freiburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cornelia","family":"K\u00f6hler","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, University of Bochum, Bochum, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benedikt","family":"Winter","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, University hospital Mannheim, Mannheim, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes","family":"Friese","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, University hospital Bonn, Bonn, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katharina","family":"Vill","sequence":"additional","affiliation":[{"name":"Dr. v. Hauner Children\u2019s Hospital, Department of Pediatric Neurology and Developmental Medicine, LMU \u2013 University of Munich, Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2022,11,28]]},"reference":[{"key":"e_1_3_2_2_2","article-title":"Principles and practice of screening for disease","volume":"34","author":"Wilson JMGJG","year":"1968","unstructured":"WilsonJMGJG. Principles and practice of screening for disease. World Health Organisation Public Health Papers. 1968;34.","journal-title":"World Health Organisation Public Health Papers"},{"key":"e_1_3_2_3_2","doi-asserted-by":"crossref","unstructured":"WirthB. Spinal muscular atrophy: In the challenge lies a solution. Trends Neurosci. 2021.","DOI":"10.1016\/j.tins.2020.11.009"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2018.01.003"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1086\/338627"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1706198"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2021.1272"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1702752"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2019.09.007"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2019.05.005"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-019-0476-4"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.3233\/JND-190428"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-021-01783-8"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00115-021-01204-y"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000007836"},{"key":"e_1_3_2_16_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12887-021-03035-x"},{"key":"e_1_3_2_17_2","article-title":"Views of the general population on newborn screening for spinal muscular atrophy in Japan","volume":"8","author":"Lee T","year":"2021","unstructured":"LeeT, TokunagaS, TaniguchiN, et al. Views of the general population on newborn screening for spinal muscular atrophy in Japan. Children (Basel). 2021;8.","journal-title":"Children (Basel)"},{"key":"e_1_3_2_18_2","first-page":"101","article-title":"Neonatal screening for congenital metabolic and endocrine disorders\u2013results from germany for the years 2006\u20132018","volume":"118","author":"L\u00fcders A","year":"2021","unstructured":"L\u00fcdersA, BlankensteinO, BrockowI, et al. Neonatal screening for congenital metabolic and endocrine disorders\u2013results from germany for the years 2006\u20132018. Dtsch Arztebl Int. 2021;118:101\u20138.","journal-title":"Dtsch Arztebl Int"},{"key":"e_1_3_2_19_2","doi-asserted-by":"crossref","unstructured":"D\u2019SilvaAM KariyawasamDST BestS WileyV FarrarMA. Integrating newborn screening for spinal muscular atrophy into health care systems: An Australian pilot programme. Developmental Medicine and Child Neurology. 2021.","DOI":"10.1111\/dmcn.15117"},{"key":"e_1_3_2_20_2","doi-asserted-by":"crossref","unstructured":"MattesonJ WuCH MathurD et al. California\u2019s experience with SMA newborn screening: A successful path to early. intervention. J Neuromuscul Dis. 2022.","DOI":"10.3233\/JND-221561"},{"key":"e_1_3_2_21_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.32003"},{"key":"e_1_3_2_22_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-021-99496-2"},{"key":"e_1_3_2_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.11.005"},{"key":"e_1_3_2_24_2","doi-asserted-by":"publisher","DOI":"10.1177\/00369330221078994"},{"key":"e_1_3_2_25_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000200986"},{"key":"e_1_3_2_26_2","doi-asserted-by":"crossref","unstructured":"SchwartzO K\u00f6lbelH BlaschekA et al. Spinal muscular atrophy -is newborn screening too late for children with two SMN2 copies? J Neuromuscul Dis. 2022.","DOI":"10.3233\/JND-220789"},{"key":"e_1_3_2_27_2","doi-asserted-by":"crossref","unstructured":"BaranelloG GorniK DaiglM et al. Prognostic factors and treatment-effect modifiers in spinal muscular atrophy. Clin Pharmacol Ther. 2021.","DOI":"10.1002\/cpt.2247"},{"key":"e_1_3_2_28_2","doi-asserted-by":"publisher","DOI":"10.1177\/08830738211040292"},{"key":"e_1_3_2_29_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41591-022-01866-4"},{"key":"e_1_3_2_30_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41591-022-01867-3"},{"key":"e_1_3_2_31_2","doi-asserted-by":"publisher","DOI":"10.1177\/0883073820928784"},{"key":"e_1_3_2_32_2","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.51126"},{"key":"e_1_3_2_33_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.27261"},{"key":"e_1_3_2_34_2","doi-asserted-by":"publisher","DOI":"10.3233\/JND-190468"},{"key":"e_1_3_2_35_2","doi-asserted-by":"publisher","DOI":"10.3233\/JND-180304"},{"key":"e_1_3_2_36_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-019-1125-2"},{"key":"e_1_3_2_37_2","unstructured":"CADTH. CADTH Canadian Drug Expert Committee Recommendation ONASEMNOGENE ABEPARVOVEC. https:\/\/canjhealthtechnolca\/indexphp\/cjht\/article\/view\/si0005\/328 2021."},{"key":"e_1_3_2_38_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2019.100514"}],"container-title":["Journal of Neuromuscular Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.3233\/JND-221577","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.3233\/JND-221577","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.3233\/JND-221577","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T23:52:17Z","timestamp":1777506737000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.3233\/JND-221577"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11,28]]},"references-count":37,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2023,1,3]]}},"alternative-id":["10.3233\/JND-221577"],"URL":"https:\/\/doi.org\/10.3233\/jnd-221577","relation":{},"ISSN":["2214-3599","2214-3602"],"issn-type":[{"value":"2214-3599","type":"print"},{"value":"2214-3602","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,11,28]]}}}