Fiberoptic endoscopic evaluation of swallowing in early-to-advanced stage Huntington’s disease: Scientific Reports

A. Schindler, N. Pizzorni, J. Sassone, L. Nanetti, A. Castaldo, B. Poletti, F. Solca, F. Pirola, L. Lazzari, M. Stramba-Badiale, A. Rossi, V. Silani, C. Mariotti, A. Ciammola

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Huntington's disease (HD) is a neurodegenerative disorder characterized by motor disturbances, cognitive decline, and behaviour changes. A well-recognized feature of advanced HD is dysphagia, which leads to malnutrition and aspiration pneumonia, the latter being the primary cause of death in HD. Previous studies have underscored the importance of dysphagia in HD patients with moderate-to-advanced stage disease, but it is unclear whether dysphagia affects patients already at an early stage of disease and whether genetic or clinical factors can predict its severity. We performed fiberoptic endoscopic evaluation of swallowing (FEES) in 61 patients with various stages of HD. Dysphagia was found in 35% of early-stage, 94% of moderate-stage, and 100% of advanced-stage HD. Silent aspiration was found in 7.7% of early-stage, 11.8% of moderate-stage, and 27.8% of advanced-stage HD. A strong correlation was observed between disease progression and dysphagia severity: worse dysphagia was associated with worsening of motor symptoms. Dysphagia severity as assessed by FEES correlated with Huntington’s Disease Dysphagia Scale scores (a self-report questionnaire specific for evaluating swallowing in HD). The present findings add to our understanding of dysphagia onset and progression in HD. A better understanding of dysphagia onset and progression in HD may inform guidelines for standard clinical care in dysphagia, its recognition, and management. © 2020, The Author(s).
Original languageEnglish
Article number15242
JournalSci. Rep.
Issue number1
Publication statusPublished - 2020


  • acid aspiration
  • aspiration pneumonia
  • case control study
  • complication
  • disease exacerbation
  • dysphagia
  • esophagoscopy
  • fiber optics
  • human
  • Huntington chorea
  • pathophysiology
  • physiology
  • severity of illness index
  • swallowing
  • Case-Control Studies
  • Deglutition
  • Deglutition Disorders
  • Disease Progression
  • Esophagoscopy
  • Fiber Optic Technology
  • Humans
  • Huntington Disease
  • Pneumonia, Aspiration
  • Respiratory Aspiration
  • Severity of Illness Index


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