Assessing Prevalence and Characteristics of Oro-bulbar Involvement in Children and Adults with SMA Type 2 and 3 Using a Multimodal Approach

Federica Trucco, Francesca Salmin, Andrea Lizio, Giorgia Coratti, Emilio Albamonte, Maria Chiara Frisoni, Luca Mauro, Elena Carraro, Giovanni Palazzo, Jessica Lops, Camilla Cattaneo, Susanna Pozzi, Jacopo Casiraghi, Jacopo Luca Casiraghi, Alessandra Di Bari, Beatrice Berti, Giulia Stanca, Martina Ricci, Marika Pane, Chad HeatwoleNuran Dilek, Eugenio Maria Mercuri, Valeria Ada Sansone

Research output: Contribution to journalArticle

Abstract

Bulbar and jaw muscles are impaired in patients with Spinal Muscular Atrophy (SMA) but the assessment of their severity and progression are limited by the lack of age-appropriate and disease-specific measures. We investigated mastication and swallowing in children and adults with SMA, sitters and walkers. In a 2-year multicentre cross-sectional prospective study, lip and tongue strength (Iowa Oral Performance Instrument), chewing and swallowing (Test of Masticating and Swallowing Solids), active mouth opening (aMMO) were compared to age-appropriate normative data. The perceived burden of oro-bulbar involvement (SMA-Health Index) was recorded. 78 patients were included, 45 children (median age 7.4 years),22 adults (median age 26.8 years) on nusinersen and 11 untreated (median age 32.7 years). Forty-three percent children had reduced mouth opening, 50% had prolonged total time to eat. These issues were more prominent in sitters than in walkers (p = 0.019, p = 0.014). Sixty-six percent needed increased swallows for bolus clearance. Nusinersen treated adults had median aMMO, tongue strength and total time at TOMASS values within normal range (z score: -1.40, -1.22, -1.32, respectively) whereas untreated adults had reduced aMMO (z score: -2.68) and tongue strength (z score: -2.20). Only a minority of children (2/17) and treated adults (5/21) reported burden in swallowing or mastication compared to all untreated adults (5/5). After 16 months, mastication and swallowing were stable in treated children and adults, whether sitters or walkers. The reported multimodal approach to assess oro-bulbar functions demonstrate that swallowing and mastication are impaired in SMA despite patients' perception. These results suggest a trend towards stabilization of oro-bulbar function in patients on long-term treatment with nusinersen.
Original languageEnglish
Pages (from-to)1-13
Number of pages13
JournalDysphagia
Volume2023
DOIs
Publication statusPublished - 2023

Keywords

  • Mastication
  • Nusinersen
  • Swallowing
  • Spinal muscular atrophy
  • Oro-bulbar involvement

Fingerprint

Dive into the research topics of 'Assessing Prevalence and Characteristics of Oro-bulbar Involvement in Children and Adults with SMA Type 2 and 3 Using a Multimodal Approach'. Together they form a unique fingerprint.

Cite this