{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T12:56:22Z","timestamp":1792068982000,"version":"4.4.0"},"reference-count":31,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2022,2,1]],"date-time":"2022-02-01T00:00:00Z","timestamp":1643673600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000272","name":"National Institute for Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:sec><jats:title>Aim<\/jats:title><jats:p>To assess the evolution of bulbar function in nusinersen\u2010treated spinal muscular atrophy type 1 (SMA1).<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>This single\u2010centre retrospective study identified 24 patients (14 females and 10 males) with SMA1, treated with nusinersen between 2017 and 2020. We adapted and validated the Paediatric Functional Oral Intake Scale (p\u2010FOIS), which is an outcome measure to assess bulbar function. Analysis considered SMA1 subtype, nutritional support, and Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) and p\u2010FOIS scores at initiation of nusinersen treatment (baseline) and at 6, 12, and 24\u00a0months after initiation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The median age at baseline was 11\u00a0months (range 1\u00a0month\u20137\u00a0years 6\u00a0months). Median age at initiation of tube feeding was 8\u00a0months (range 0\u20132\u00a0years 2\u00a0months). Fourteen patients were tube fed at baseline. The median p\u2010FOIS score was 3 at baseline and 2 at 12 and 24\u00a0months. Four patients, all with type 1c SMA, remained orally fed at 24\u00a0months. Median CHOP INTEND scores increased from 32 at baseline to 42 at 12 and 24\u00a0months.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>Impaired bulbar function persisted as a significant complication in most nusinersen\u2010treated patients with SMA1, in contrast to the improvement in motor abilities demonstrated in the majority. p\u2010FOIS allows for tracking of bulbar function progression and treatment response. Larger, prospective studies investigating the longer\u2010term impacts of nusinersen on bulbar function are warranted.<\/jats:p><\/jats:sec>","DOI":"10.1111\/dmcn.15171","type":"journal-article","created":{"date-parts":[[2022,2,1]],"date-time":"2022-02-01T13:30:58Z","timestamp":1643722258000},"page":"907-914","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":49,"title":["Evolution of bulbar function in spinal muscular atrophy type 1 treated with nusinersen"],"prefix":"10.1111","volume":"64","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7575-4323","authenticated-orcid":false,"given":"Harriet","family":"Weststrate","sequence":"first","affiliation":[{"name":"The Dubowitz Neuromuscular Centre Developmental Neuroscience Research and Teaching Department UCL Great Ormond Street Institute of Child Health NIHR Great Ormond Street Hospital Biomedical Research Centre &amp; Great Ormond Street Hospital NHS Foundation Trust UCL Great Ormond Street Institute of Child Health  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgia","family":"Stimpson","sequence":"additional","affiliation":[{"name":"The Dubowitz Neuromuscular Centre Developmental Neuroscience Research and Teaching Department UCL Great Ormond Street Institute of Child Health NIHR Great Ormond Street Hospital Biomedical Research Centre &amp; Great Ormond Street Hospital NHS Foundation Trust UCL Great Ormond Street Institute of Child Health  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lily","family":"Thomas","sequence":"additional","affiliation":[{"name":"Department of Language and Communication University College London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariacristina","family":"Scoto","sequence":"additional","affiliation":[{"name":"The Dubowitz Neuromuscular Centre Developmental Neuroscience Research and Teaching Department UCL Great Ormond Street Institute of Child Health NIHR Great Ormond Street Hospital Biomedical Research Centre &amp; Great Ormond Street Hospital NHS Foundation Trust UCL Great Ormond Street Institute of Child Health  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily","family":"Johnson","sequence":"additional","affiliation":[{"name":"The Dubowitz Neuromuscular Centre Developmental Neuroscience Research and Teaching Department UCL Great Ormond Street Institute of Child Health NIHR Great Ormond Street Hospital Biomedical Research Centre &amp; Great Ormond Street Hospital NHS Foundation Trust UCL Great Ormond Street Institute of Child Health  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Stewart","sequence":"additional","affiliation":[{"name":"Department of Language and Communication University College London  London UK"},{"name":"Department of Speech and Language Therapy Great Ormond Street Hospital NHS Foundation Trust  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Muntoni","sequence":"additional","affiliation":[{"name":"The Dubowitz Neuromuscular Centre Developmental Neuroscience Research and Teaching Department UCL Great Ormond Street Institute of Child Health NIHR Great Ormond Street Hospital Biomedical Research Centre &amp; Great Ormond Street Hospital NHS Foundation Trust UCL Great Ormond Street Institute of Child Health  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Baranello","sequence":"additional","affiliation":[{"name":"The Dubowitz Neuromuscular Centre Developmental Neuroscience Research and Teaching Department UCL Great Ormond Street Institute of Child Health NIHR Great Ormond Street Hospital Biomedical Research Centre &amp; Great Ormond Street Hospital NHS Foundation Trust UCL Great Ormond Street Institute of Child Health  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleanor","family":"Conway","sequence":"additional","affiliation":[{"name":"The Dubowitz Neuromuscular Centre Developmental Neuroscience Research and Teaching Department UCL Great Ormond Street Institute of Child Health NIHR Great Ormond Street Hospital Biomedical Research Centre &amp; Great Ormond Street Hospital NHS Foundation Trust UCL Great Ormond Street Institute of Child Health  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"SMA p\u2010FOIS Working Group*","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,2]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25101"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ncl.2015.07.004"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-genom-102319-103602"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2015.04.009"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3001777"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1702752"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1710504"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.11.005"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clnu.2016.10.020"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073813503988"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.prrv.2020.09.002"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.51276"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND-190465"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.apmr.2004.11.049"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2009.11.014"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.2147\/TCRM.S172291"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25533"},{"key":"e_1_2_11_19_1","unstructured":"SwobodaKJSV De VivoDC BertiniE HwuWL MakepeaceC BohnJ et al.Preserved Swallowing Function in Infants Who Initiated Nusinersen Treatment in the Presymptomatic Stage of SMA: Results From the NURTURE Study. 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