{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T02:31:41Z","timestamp":1790217101696,"version":"4.1.0"},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,2,6]],"date-time":"2021-02-06T00:00:00Z","timestamp":1612569600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002426","name":"Fondazione Telethon","doi-asserted-by":"publisher","award":["GSP 13002"],"award-info":[{"award-number":["GSP 13002"]}],"id":[{"id":"10.13039\/501100002426","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":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>The aim of this paper was to report the 2\u2010year follow\u2010up in type I patients treated with Nusinersen and to assess whether possible changes in motor function are related to the subtype, age, or <jats:italic>SMN2<\/jats:italic> copy number.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Sixty\u2010eight patients, with ages ranging from 0.20 to 15.92\u00a0years (mean: 3.96; standard deviation: <jats:styled-content>+<\/jats:styled-content>3.90) were enrolled in the study. All patients were assessed using the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) and the developmental section of the Hammersmith Infant Neurological Examination (HINE\u20102) at the time they started treatment and 12 and 24\u00a0months after that.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>For both CHOP and HINE\u20102 repeated measures analysis of variance showed a significant difference (<jats:italic>P<\/jats:italic>\u00a0&lt;\u00a00.001) between baseline and 12\u00a0months, 12\u00a0months and 24\u00a0months, and baseline and 24\u2010month scores for the whole group. When age subgroups (&lt;210\u00a0days, &lt;2\u00a0years, 2\u20134\u00a0years, 5\u201311\u00a0years, 12\u201318\u00a0years) were considered, on the CHOP INTEND the difference was significant between baseline and 24\u00a0months in all age subgroups. On the HINE\u20102, the difference between baseline and 24\u00a0months was significant in all the subgroups before the age of 4\u00a0years. Age was predictive of changes on both scales (<jats:italic>P<\/jats:italic>\u00a0&lt;\u00a00.05), whereas <jats:italic>SMN<\/jats:italic>2 copy number and decimal classification were not.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>Our results suggest that some improvement of motor function can be observed even after the first year of treatment. This is more obvious in the infants treated in the first 2\u00a0years but some improvement can also be found in older children.<\/jats:p><\/jats:sec>","DOI":"10.1002\/acn3.51276","type":"journal-article","created":{"date-parts":[[2021,2,8]],"date-time":"2021-02-08T18:19:15Z","timestamp":1612808355000},"page":"548-557","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":62,"title":["Type I SMA \u201cnew natural history\u201d: long\u2010term data in nusinersen\u2010treated patients"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4851-6124","authenticated-orcid":false,"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 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