Imaging and Clinical Data on Swallowing Function of Individuals with Huntington’s Disease and Dysphagia

• Published in: Journal of Huntington's disease Vol. 9; no. 2; pp. 163 - 171
• Main Authors: Keage, Megan, Baum, Shira, Pointon, Lisa, Lau, Jane, Berndt, Jacinta, Hopkins, Josephine, Maule, Roxanne, Vogel, Adam P.
• Format: Journal Article
• Language: English
• Published: London, England SAGE Publications 01.01.2020; IOS Press BV
• Subjects: Adult; Deglutition Disorders - diagnosis; Deglutition Disorders - etiology; Deglutition Disorders - physiopathology; Disease Progression; Dysphagia; Female; Fluoroscopy; Humans; Huntington Disease - complications; Huntington Disease - diagnosis; Huntington Disease - physiopathology; Huntington's disease; Huntingtons disease; Longitudinal Studies; Male; Middle Aged; Palate; Pharynx; Retrospective Studies; Severity of Illness Index; Swallowing; trinucleotide expansion; neurodegeneration; Swallowing; speech; videofluoroscopy; deglutition disorders
• ISSN: 1879-6397; 1879-6397; 1879-6400
• DOI: 10.3233/JHD-190390

Background: Dysphagia is common in Huntington’s disease (HD) affecting all phases of swallowing. Correlations exist between non-instrumental measures of dysphagia and clinical features of HD, including age, disease duration and degree of motor impairment. Lack of instrumental data limits our ability to wholly characterize HD-related dysphagia and prognosticate swallowing changes over time. Objective: To retrospectively describe a relatively large database of videofluoroscopic studies (VFSSs) and determine the relationships between dysphagia and HD clinical parameters, including disease duration and burden of pathology score. Methods: Medical and swallowing data of 49 individuals with HD and dysphagia were examined. VFSS data were interpreted using the Bethlehem Assessment Scale and Penetration-Aspiration Scale. Data from clinical bedside examination and social information were collated to describe the impact of dysphagia in HD. Repeated VFSS data were available for seven individuals. Results: Swallowing was characterized by lingual dysfunction, reduced soft palate elevation, delayed pharyngeal swallow initiation, and inability to clear matter from the pharynx. Two-thirds of cases presented with compromised airway protection with both liquid and solid consistencies. Tachyphagia and difficulty self-feeding were common. Dysphagia correlated with disease severity and duration. Longitudinal analysis revealed a mixed pattern of progression with some individuals presenting with worsening dysphagia whilst others appeared to remain stable or improved in function. Conclusions: Dysphagia in HD is exacerbated by difficulties with self-feeding and monitoring feeding rate. Burden of pathology relates to pharyngeal swallow initiation and penetration and aspiration of fluid. Dysphagia did not appear to worsen in a systematic way in a subset of participants.