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.New interventions have radically altered the natural history of Spinal Muscular Atrophy. In this report, oral and swallowing outcomes are report following interventions, widening our understanding of the potential benefits of early treatment.

Berti, B., Fanelli, L., Stanca, G., Onesimo, R., Palermo, C., Leone, D., De Sanctis, R., Carnicella, S., Norcia, G., Forcina, N., Coratti, G., Pera, M. C., Giorgio, V., Ausili Cefaro, C., Finkel, R., Pane, M., Mercuri, E., Oral and Swallowing Abilities Tool (OrSAT) in nusinersen treated patients, <<ARCHIVES OF DISEASE IN CHILDHOOD>>, 2022; (N/A): N/A-N/A. [doi:10.1136/archdischild-2022-323899] [http://hdl.handle.net/10807/213597]

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

Fanelli, Lavinia;Onesimo, Roberta;de Sanctis, Roberto;Coratti, Giorgia;Pera, Maria Carmela;Giorgio, Valentina;Ausili Cefaro, Carolina;Pane, Marika;Mercuri, Eugenio
2022

Abstract

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.New interventions have radically altered the natural history of Spinal Muscular Atrophy. In this report, oral and swallowing outcomes are report following interventions, widening our understanding of the potential benefits of early treatment.
Inglese
Berti, B., Fanelli, L., Stanca, G., Onesimo, R., Palermo, C., Leone, D., De Sanctis, R., Carnicella, S., Norcia, G., Forcina, N., Coratti, G., Pera, M. C., Giorgio, V., Ausili Cefaro, C., Finkel, R., Pane, M., Mercuri, E., Oral and Swallowing Abilities Tool (OrSAT) in nusinersen treated patients, <<ARCHIVES OF DISEASE IN CHILDHOOD>>, 2022; (N/A): N/A-N/A. [doi:10.1136/archdischild-2022-323899] [http://hdl.handle.net/10807/213597]
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/10807/213597
Citazioni
  • ???jsp.display-item.citation.pmc??? 0
  • Scopus ND
  • ???jsp.display-item.citation.isi??? 0
social impact