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Oral and Swallowing Abilities Tool (OrSAT) in nusinersen treated patients
  1. Beatrice Berti1,
  2. Lavinia Fanelli1,
  3. Giulia Stanca1,
  4. Roberta Onesimo2,
  5. Concetta Palermo1,
  6. Daniela Leone1,
  7. Roberto de Sanctis1,
  8. Sara Carnicella1,
  9. Giulia Norcia1,
  10. Nicola Forcina1,
  11. Giorgia Coratti1,
  12. Maria Carmela Pera1,
  13. Valentina Giorgio2,
  14. Carolina Ausili Cefaro3,
  15. Richard Finkel4,
  16. Marika Pane1,5,
  17. Eugenio Mercuri1,5
  1. 1Pediatric Neurology Unit and Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Lazio, Italy
  2. 2Paediatric Unit, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Lazio, Italy
  3. 3Speech Language Pathology Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Lazio, Italy
  4. 4Center for Experimental Neurotherapeutics, St Jude Children's Research Hospital, Memphis, Tennessee, USA
  5. 5Pediatric Neurology, Catholic University of the Sacred Heart - Rome Campus, Roma, Lazio, Italy
  1. Correspondence to Professor Eugenio Mercuri, Pediatric Neurology Unit and Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Lazio, Italy; eugeniomaria.mercuri{at}unicatt.it

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.

  • paediatrics
  • neurology
  • child development

Data availability statement

Data are available upon reasonable request.

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Data availability statement

Data are available upon reasonable request.

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Footnotes

  • BB and LF are joint first authors.

  • MP and EM are joint last authors

  • BB and LF contributed equally.

  • Contributors BB, LF, MP, EM: conceptualisation, formal analysis, investigation, methodology, writing original draft; RO, CP, DL: data curation, formal analysis, investigation; GS, RdS, SC, GN, NF, VG: data curation; GC, MCP: data curation, formal analysis, methodology; CAC: conceptualisation, methodology; RF: data curation, methodology, formal analysis, investigation. EM is the guarantor.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • 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.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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