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Assessing Bulbar Function in Spinal Muscular Atrophy Using Patient-Reported Outcomes.

Sally Dunaway Young1, Amy Pasternak2,3, Tina Duong1

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Summary

Spinal Muscular Atrophy (SMA) patients frequently experience voice and swallowing difficulties. Patient-reported outcomes like the Voice Handicap Index and Eating Assessment Tool-10 can help monitor these bulbar functions.

Keywords:
Spinal muscular atrophycommunicationdeglutitiondysphagiapatient-reported outcome measuresspeechswallowvoice

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Area of Science:

  • Neurology
  • Genetics
  • Clinical Medicine

Background:

  • Novel Spinal Muscular Atrophy (SMA) treatments show motor improvements.
  • Bulbar function monitoring is crucial for severe SMA, yet comparable measures are lacking.
  • Bulbar dysfunction significantly impacts quality of life in SMA patients.

Purpose of the Study:

  • To evaluate bulbar function using patient-reported outcomes (PROs) in individuals with SMA.
  • To correlate PROs with clinical characteristics in the SMA population.
  • To establish the utility of PROs for assessing bulbar deficits in SMA.

Main Methods:

  • Recruited 47 non-ambulatory participants with SMA (mean age 29.8 years).
  • Collected Voice Handicap Index (VHI) and Eating Assessment Tool-10 (EAT-10) PROs.
  • Assessed associations using Spearman correlations and Wilcoxon rank sum tests.

Main Results:

  • 94% reported voice issues (e.g., difficulty being heard in noise).
  • 85.1% reported swallowing difficulties (e.g., with pills and solids).
  • VHI and EAT-10 showed moderate association (rs=0.66).

Conclusions:

  • Individuals with SMA experience significant bulbar deficits affecting voice and swallowing.
  • PROs like VHI and EAT-10 are valuable for assessing bulbar function in SMA.
  • Further research is needed to refine bulbar scales and their responsiveness to SMA treatments.