{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T07:05:52Z","timestamp":1781766352100,"version":"3.54.5"},"reference-count":20,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2023,4,3]],"date-time":"2023-04-03T00:00:00Z","timestamp":1680480000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100005614","name":"Biogen","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005614","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2023,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>We report the 4\u2010year follow\u2010up in type I patients treated with nusinersen and the changes in motor, respiratory and bulbar function in relation to subtype, age and <jats:italic>SMN2<\/jats:italic> copy number.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The study included SMA 1 patients with at least one assessment after 12, 24 and 48\u2009months from the first dose of nusinersen. The assessments used were Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) and the Hammersmith Infant Neurological Examination (HINE\u2010II).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Forty\u2010eight patients, with ages ranging from 7\u2009days to 12\u2009years (mean 3.3\u2009years, SD 3.6\u2009years) were included in the study. The CHOP INTEND and HINE\u2010II scores significantly increased between baseline and 48\u2009months (<jats:italic>p<\/jats:italic>\u00a0&lt;\u20090.001). When age at starting treatment subgroups (&lt;210\u2009days, &lt;2\u2009years, 2\u20134\u2009years, 5\u201311\u2009years, \u226512\u2009years) were considered, the CHOP INTEND increased significantly in patients younger than 4\u2009years at treatment, while the HINE\u20102 increased significantly in patients younger than 2\u2009years at treatment. In a mixed\u2010model analysis, age, nutritional and respiratory status were predictive of changes on both scales while <jats:italic>SMN<\/jats:italic>2 copy number and decimal classification were not.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our results confirm the safety profile previously reported and support the durability of the efficacy of nusinersen at 4\u2009years with an overall stability or mild improvement and no evidence of deterioration over a long period of time.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.15768","type":"journal-article","created":{"date-parts":[[2023,3,7]],"date-time":"2023-03-07T13:26:12Z","timestamp":1678195572000},"page":"1755-1763","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":38,"title":["Type I spinal muscular atrophy patients treated with nusinersen: 4\u2010year follow\u2010up of motor, respiratory and bulbar function"],"prefix":"10.1111","volume":"30","author":[{"given":"Marika","family":"Pane","sequence":"first","affiliation":[{"name":"Paediatric Neurology Catholic University  Rome Italy"},{"name":"Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCSS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgia","family":"Coratti","sequence":"additional","affiliation":[{"name":"Paediatric Neurology Catholic University  Rome Italy"},{"name":"Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCSS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria A.","family":"Sansone","sequence":"additional","affiliation":[{"name":"Neurorehabilitation Unit University of Milan  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonia","family":"Messina","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Medicine University of Messina  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