{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T05:11:21Z","timestamp":1780549881034,"version":"3.54.1"},"reference-count":20,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T00:00:00Z","timestamp":1780358400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Piano Nazionale di Ripresa e Resilienza"},{"name":"Spinal Muscular Atrophy: clinical phenotypes and biomarkers at the time of the new disease modifying therapies","award":["2022N2FHA8\u2014CUP J53D23011020008"],"award-info":[{"award-number":["2022N2FHA8\u2014CUP J53D23011020008"]}]},{"DOI":"10.13039\/501100003196","name":"Italian Ministry of Health","doi-asserted-by":"crossref","award":["GR-2021-12374579"],"award-info":[{"award-number":["GR-2021-12374579"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>Background\/Objectives: The advent of disease modifying therapies (DMTs) for Spinal Muscular Atrophy (SMA) has highlighted the need for reliable tools to assess bulbar function in type I individuals. The Oral and Swallowing Abilities Tool (OrSAT) was originally developed to evaluate swallowing and feeding abilities in infants with SMA type I during the first two years of life. This study aimed to assess the applicability of the OrSAT in a cohort of children with SMA type I older than 2 years. Methods: Fifty-two children with genetically confirmed SMA type I, aged 2 to 12.6 years, were included. All participants had received at least one DMT, administered either soon after diagnosis or when treatment became available. Bulbar and feeding abilities were assessed using the OrSAT and results were grouped according to clinical subtype and feeding modality. Given the small sample size of the subgroups and the ordinal nature of OrSAT scores, comparisons between groups were performed using the non-parametric Kruskal\u2013Wallis test. Results: At follow-up, 27 children were orally fed, 19 were exclusively tube-fed, and 6 were tube-fed but were also able to eat some food by mouth. The OrSAT scores reflect a wide spectrum of bulbar function from severe to no impairment. Most children who required exclusive tube-feeding at follow-up had already been tube-fed at treatment initiation, while a small number showed improvement in swallowing abilities and the partial recovery of oral feeding during follow-up. Conclusions: Our results suggest that the OrSAT, previously used only in the first two years of life, may also be applicable in older children to describe bulbar involvement and monitor changes over time. However, further studies are needed to refine the tool for this age group and to formally validate its use in older children with SMA type I. Its use may contribute to the longitudinal assessment of swallowing abilities and support rehabilitative management.<\/jats:p>","DOI":"10.3390\/children13060773","type":"journal-article","created":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T18:08:07Z","timestamp":1780510087000},"page":"773","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Oral and Swallowing Abilities Tool (OrSAT) in Individuals with Type I SMA Older than 24 Months: A Pilot Study"],"prefix":"10.3390","volume":"13","author":[{"given":"Giulia","family":"Stanca","sequence":"first","affiliation":[{"name":"Pediatric Neurology Unit and Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Roma, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Sframeli","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Medicine, University of Messina, 98125 Messina, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camilla","family":"Verdilio","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit and Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Roma, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5698-9415","authenticated-orcid":false,"given":"Beatrice","family":"Berti","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit and Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Roma, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4057-6891","authenticated-orcid":false,"given":"Lavinia","family":"Fanelli","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit and Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Roma, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalia","family":"Longoni","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Medicine, University of Messina, 98125 Messina, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marisa","family":"Maniaci","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Medicine, University of Messina, 98125 Messina, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6666-5628","authenticated-orcid":false,"given":"Giorgia","family":"Coratti","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit and Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Roma, Italy"},{"name":"Pediatric Neurology, Catholic University of the Sacred Heart\u2014Rome Campus, 00168 Roma, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Cutr\u00ec","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit and Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Roma, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3128-6657","authenticated-orcid":false,"given":"Roberta","family":"Onesimo","sequence":"additional","affiliation":[{"name":"Pediatric Unit, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Roma, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Concetta","family":"Palermo","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit and Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Roma, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Leone","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit and Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Roma, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-4265-3299","authenticated-orcid":false,"given":"Anna","family":"Falco","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit and Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Roma, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Norcia","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit and Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Roma, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7448-8710","authenticated-orcid":false,"given":"Valentina","family":"Giorgio","sequence":"additional","affiliation":[{"name":"Pediatric Unit, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Roma, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolina Ausili","family":"Cefaro","sequence":"additional","affiliation":[{"name":"Speech Language Pathology Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Roma, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-9324-2646","authenticated-orcid":false,"given":"Antonella","family":"Cerchiari","sequence":"additional","affiliation":[{"name":"Pediatric Neurology, Catholic University of the Sacred Heart\u2014Rome Campus, 00168 Roma, Italy"},{"name":"Management and Diagnostic Innovations & Clinical Pathways Research Area, Neurorehabilitation and Adapted Physical Activity Day Hospital, Bambino Ges\u00f9 Children\u2019s Hospital IRCCS, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7994-3391","authenticated-orcid":false,"given":"Sonia","family":"Messina","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Medicine, University of Messina, 98125 Messina, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4851-6124","authenticated-orcid":false,"given":"Marika","family":"Pane","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit and Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Roma, Italy"},{"name":"Pediatric Neurology, Catholic University of the Sacred Heart\u2014Rome Campus, 00168 Roma, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9851-5365","authenticated-orcid":false,"given":"Eugenio","family":"Mercuri","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit and Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Roma, Italy"},{"name":"Pediatric Neurology, Catholic University of the Sacred Heart\u2014Rome Campus, 00168 Roma, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,6,2]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"932","DOI":"10.1002\/acn3.779","article-title":"Neurofilament as a potential biomarker for spinal muscular atrophy","volume":"6","author":"Darras","year":"2019","journal-title":"Ann. 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Neurol."}],"container-title":["Children"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2227-9067\/13\/6\/773\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T04:55:26Z","timestamp":1780548926000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2227-9067\/13\/6\/773"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,2]]},"references-count":20,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2026,6]]}},"alternative-id":["children13060773"],"URL":"https:\/\/doi.org\/10.3390\/children13060773","relation":{},"ISSN":["2227-9067"],"issn-type":[{"value":"2227-9067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6,2]]}}}