Fiberoptic endoscopic evaluation of swallowing in early-to-advanced stage Huntington\u2019s disease

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

doi:10.1038/s41598-020-72250-w

Abstract

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.

Highlights

Huntington’s disease (HD) is a neurodegenerative disorder characterized by motor disturbances, cognitive decline, and behaviour changes
To determine whether dysphagia was present in the patients with early-stage HD, we stratified patients according to disease stage[11] and reanalysed the Dysphagia Outcome and Severity Scale (DOSS) scores
Dysphagia severely reduces the quality of life of HD patients and their caregivers; it is associated with an increased risk for aspiration pneumonia, the primary cause of death in HD

Summary

Introduction

Huntington’s disease (HD) is a neurodegenerative disorder characterized by motor disturbances, cognitive decline, and behaviour changes. Dysphagia severity as assessed by FEES correlated with Huntington’s Disease Dysphagia Scale scores (a self-report questionnaire specific for evaluating swallowing in HD). Neuropathological changes in HD include prominent loss of striatal GABAergic neurons and progressive involvement of the cerebral cortex, pallidum, thalamus, brainstem, and c erebellum[2]. Such widespread neurodegeneration results in movement disorders. The hallmark motor symptom in HD, other typical motor disorders include dystonia, incoordination, Parkinsonism, and ideomotor apraxia When these heterogeneous movement disorders involve the oropharyngeal musculature, swallowing difficulties e nsue[3]. The Huntington’s Disease Dysphagia Scale (HDDS), a self-report questionnaire designed to assess swallowing in HD, has demonstrated good construct. Ravelli Center for Neurotechnology and Experimental Brain Therapeutics, Universit degli Studi di Milano, Milan, Scientific Reports | (2020) 10:15242

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