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
Author Information
Antonio Schindler: Phoniatric Unit, Department of Biomedical and Clinical Sciences "L. Sacco", University of Milan, Via GB Grassi 74, 20157, Milan, Italy. antonio.schindler@unimi.it.
Nicole Pizzorni: Phoniatric Unit, Department of Biomedical and Clinical Sciences "L. Sacco", University of Milan, Via GB Grassi 74, 20157, Milan, Italy.
Jenny Sassone: Vita-Salute San Raffaele University, Milan, Italy.
Lorenzo Nanetti: Unit of Medical Genetics and Neurogenetics, Department of Diagnostics and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Anna Castaldo: Unit of Medical Genetics and Neurogenetics, Department of Diagnostics and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Barbara Poletti: Department of Neurology and Laboratory of Neuroscience, Istituto Auxologico Italiano IRCCS, P.le Brescia 20, 20149, Milan, Italy.
Federica Solca: Department of Neurology and Laboratory of Neuroscience, Istituto Auxologico Italiano IRCCS, P.le Brescia 20, 20149, Milan, Italy.
Francesca Pirola: Phoniatric Unit, Department of Biomedical and Clinical Sciences "L. Sacco", University of Milan, Via GB Grassi 74, 20157, Milan, Italy.
Laura Lazzari: Phoniatric Unit, Department of Biomedical and Clinical Sciences "L. Sacco", University of Milan, Via GB Grassi 74, 20157, Milan, Italy.
Marco Stramba-Badiale: Department of Geriatrics and Cardiovascular Medicine, Istituto Auxologico Italiano IRCCS, Milan, Italy.
Agnese Rossi: Department of Geriatrics and Cardiovascular Medicine, Istituto Auxologico Italiano IRCCS, Milan, Italy.
Vincenzo Silani: Department of Neurology and Laboratory of Neuroscience, Istituto Auxologico Italiano IRCCS, P.le Brescia 20, 20149, Milan, Italy.
Caterina Mariotti: Unit of Medical Genetics and Neurogenetics, Department of Diagnostics and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Andrea Ciammola: Department of Neurology and Laboratory of Neuroscience, Istituto Auxologico Italiano IRCCS, P.le Brescia 20, 20149, Milan, Italy. a.ciammola@auxologico.it.
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.
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