Oral and Swallowing Abilities Tool (OrSAT) in nusinersen treated patients.

Autor:	Berti B; Pediatric Neurology Unit and Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Lazio, Italy., Fanelli L; Pediatric Neurology Unit and Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Lazio, Italy., Stanca G; Pediatric Neurology Unit and Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Lazio, Italy., Onesimo R; Paediatric Unit, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Lazio, Italy., Palermo C; Pediatric Neurology Unit and Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Lazio, Italy., Leone D; Pediatric Neurology Unit and Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Lazio, Italy., de Sanctis R; Pediatric Neurology Unit and Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Lazio, Italy., Carnicella S; Pediatric Neurology Unit and Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Lazio, Italy., Norcia G; Pediatric Neurology Unit and Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Lazio, Italy., Forcina N; Pediatric Neurology Unit and Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Lazio, Italy., Coratti G; Pediatric Neurology Unit and Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Lazio, Italy., Pera MC; Pediatric Neurology Unit and Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Lazio, Italy., Giorgio V; Paediatric Unit, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Lazio, Italy., Ausili Cefaro C; Speech Language Pathology Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Lazio, Italy., Finkel R; Center for Experimental Neurotherapeutics, St Jude Children's Research Hospital, Memphis, Tennessee, USA., Pane M; Pediatric Neurology Unit and Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Lazio, Italy.; Pediatric Neurology, Catholic University of the Sacred Heart - Rome Campus, Roma, Lazio, Italy., Mercuri E; Pediatric Neurology Unit and Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Lazio, Italy eugeniomaria.mercuri@unicatt.it.; Pediatric Neurology, Catholic University of the Sacred Heart - Rome Campus, Roma, Lazio, Italy.
Jazyk:	angličtina
Zdroj:	Archives of disease in childhood [Arch Dis Child] 2022 Sep 20; Vol. 107 (10), pp. 912-916. Date of Electronic Publication: 2022 Sep 20.
DOI:	10.1136/archdischild-2022-323899
Abstrakt:	Introduction: The aim of the study was to longitudinally assess swallowing abilities in nusinersen-treated patients with type 1 spinal muscular atrophy. Methods: Twenty infants with type 1 SMA (11 female and 9 male) treated with nusinersen between 3 weeks and 15 months of age, were assessed using the Oral and Swallowing Abilities Tool (OrSAT). The duration of the follow-up after treatment ranged between 12 months and 62 months. Results: Twelve of the 20 infants had normal swallowing and there was no need for tube feeding at the time treatment started. Ten of the 12 had consistently normal swallowing with no need for tube feeding on follow-up. The other two required tube feeding but they regained the ability to eat some food by mouth.The remaining 8 infants already had tube feeding inserted at the time treatment started: 4 of them also had tracheostomy and they showed no changes on the OrSAT Scale. The other 4 who had tube feeding but no tracheostomy had partial functional improvement. Conclusion: Our results suggest that the degree of functional impairment at the time treatment is started can help to predict the progression of swallowing abilities. The use of a structured assessment also helped to detect partial improvements. Competing Interests: Competing interests: RdS received funding from Biogen, Roche, Avexis and Novartis as speaker in sponsored symposia outside the submitted work. GC received funding from Biogen, Roche, Avexis, Novartis and Genesis Pharma as speaker in sponsored symposia outside the submitted work. MCP received funding from Roche as speaker in sponsored symposia outside the submitted work. RF has received funding as a member of advisory boards for SMA studies from Biogen, Avexis, Ionis Pharmaceuticals, Inc., Novartis, Scholar Rock and Roche outside the submitted work. MP received funding as a member of advisory boards from Biogen, Roche, Avexis and Novartis as speaker in sponsored symposia outside the submitted work. EM has received funding as a member of advisory boards for SMA studies from Biogen, Avexis, Ionis Pharmaceuticals, Inc., Novartis, Scholar Rock and Roche outside the submitted work. (© Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ.)
Databáze:	MEDLINE
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