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

Antonio Schindler, Nicole Pizzorni, Jenny Sassone, Lorenzo Nanetti, Anna Castaldo, Barbara Poletti, Federica Solca, Francesca Pirola, Laura Lazzari, Marco Stramba-Badiale, Agnese Rossi, Vincenzo Silani, Caterina Mariotti, Andrea Ciammola

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Article number15242
JournalScientific Reports
Issue number1
Publication statusPublished - Dec 1 2020

ASJC Scopus subject areas

  • General


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