{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T09:12:56Z","timestamp":1792141976325,"version":"4.4.0"},"reference-count":33,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,4,10]],"date-time":"2024-04-10T00:00:00Z","timestamp":1712707200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>Mandatory newborn screening (NBS) for spinal muscular atrophy (SMA) was implemented for the first time in Italy at the end of 2021, allowing the identification and treatment of patients at an asymptomatic stage.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>DNA samples extracted from dried blood spot (DBS) from newborns in Apulia region were analysed for SMA screening by using a real\u2010time PCR\u2010based assay. Infants harbouring homozygous deletion of <jats:italic>SMN1<\/jats:italic> exon 7 confirmed by diagnostic molecular tests underwent clinical and neurophysiological assessment and received a timely treatment.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Over the first 20 months since regional NBS introduction, four out of 42,492 (0.009%) screened children were found to carry a homozygous deletion in the exon 7 of <jats:italic>SMN1<\/jats:italic> gene, with an annual incidence of 1:10,623. No false negatives were present. Median age at diagnosis was 7\u2009days and median age at treatment was 20.5\u2009days. Three of them had two copies of <jats:italic>SMN2<\/jats:italic> and received gene therapy, while the one with three <jats:italic>SMN2<\/jats:italic> copies was treated with nusinersen. All but one were asymptomatic at birth, showed no clinical signs of disease after a maximum follow\u2010up of 16 months and reached motor milestones appropriate with their age. The minimum interval between diagnosis and the treatment initiation was 9\u2009days.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>The timely administration of disease\u2010modifying therapies prevented presymptomatic subjects to develop disease symptoms. Mandatory NBS for SMA should be implemented on a national scale.<\/jats:p><\/jats:sec>","DOI":"10.1002\/acn3.52018","type":"journal-article","created":{"date-parts":[[2024,4,11]],"date-time":"2024-04-11T04:40:10Z","timestamp":1712810410000},"page":"1090-1096","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Early spinal muscular atrophy treatment following newborn screening: A <scp>20\u2010month<\/scp> review of the first Italian regional experience"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8460-938X","authenticated-orcid":false,"given":"Delia","family":"Gagliardi","sequence":"first","affiliation":[{"name":"Dino Ferrari Center, Department of Pathophysiology and Transplantation University of Milan  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleonora","family":"Canzio","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit Pediatric Hospital \u201cGiovanni XXIII\u201d  Bari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Orsini","sequence":"additional","affiliation":[{"name":"Medical Genetic Unit, Department of Reproductive Pregnancy Risk ASL BARI  Bari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pasquale","family":"Conti","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit Pediatric Hospital \u201cGiovanni XXIII\u201d  Bari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vita","family":"Sinisi","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit Pediatric Hospital \u201cGiovanni XXIII\u201d  Bari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cosimo","family":"Maggiore","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit Pediatric Hospital \u201cGiovanni XXIII\u201d  Bari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Carla","family":"Santarsia","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit Pediatric Hospital \u201cGiovanni XXIII\u201d  Bari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppina","family":"Lagioia","sequence":"additional","affiliation":[{"name":"U.O.C. Medicina Fisica e Riabilitazione, A.O.U. 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