Dysphagia in Huntington's Disease: Correlation with Clinical Features

Abstract

Huntington's disease (HD) is an inherited neurodegenerative disorder characterised by motor impairment, cognitive decline and psychiatric disorders. Dysphagia is a pathologic condition that increases morbidity and mortality of the affected people. Our aim was to evaluate dysphagia in a group of HD patients in view of motor, cognitive and functional decline. Thirty-seven genetically confirmed HD patients were submitted to clinical evaluations of swallowing. Bedside Swallowing Assessment Scale (BSAS) was used. Dysphagia Outcome and Severity Scale (DOSS) was applied for a preliminary classification of swallowing difficulties. All patients were also evaluated by the Unified Huntington's Disease Rating Scale (UHDRS). A group of 39 controls comparable for sex and age were recruited for BSAS scores normalisation. The BSAS scores indicated that in our HD cohort, 32.4% presented relevant or severe dysphagia. The DOSS levels were significantly correlated with main clinical features, such as age, disease duration and motor impairment, with special regard to lingual protrusion ability, dysarthria and bradykinesia. The total functional capacity (TFC) and cognitive scales did not show significant correlation with DOSS levels. The results of clinical examination of swallowing indicated that dysphagia is a prevalent motor symptom of HD.

Dysphagia characteristics in Huntington’s disease patients: insights from the Fiberoptic Endoscopic Evaluation of Swallowing and the Swallowing Disturbances Questionnaire

“…1 Many HD patients experience dysphagia, 1,2 which seems to worsen with disease progression and may cause lifethreatening complications, such as malnutrition, dehydration, and aspiration pneumonia. 3 The literature on specific swallowing disturbances of HD patients and their possible correlation to other manifestations of HD is limited. According to a recent study by de Tommaso et al, 3 dysphagia may be related to a combination of motor deficits and behavioral changes which may affect food intake and increase feeding dependency.…”

“…3 The literature on specific swallowing disturbances of HD patients and their possible correlation to other manifestations of HD is limited. According to a recent study by de Tommaso et al, 3 dysphagia may be related to a combination of motor deficits and behavioral changes which may affect food intake and increase feeding dependency. Those authors observed that the majority of the HD patients experienced dysphagia symptoms and oral motor impairment, specifically, tongue protrusion, while cognitive decline did not seem to correlate with dysphagia severity.…”

Further investigation of phenotypes and confounding factors of progressive ratio performance and feeding behavior in the BACHD rat model of Huntington disease

“…Specifically, we have found that BACHD rats have disproportionally small salivary glands (unpublished results), which might impair their ability to form a convenient food bolus. HD patients often suffer from problems regarding eating, with particularly frequent problems when swallowing [58–61]. We have repeatedly performed tests where WT and BACHD rats are allowed to consume a large amount of the reward pellets used in the Skinner boxes (see [18] for a published example).…”

Dysphagia Affecting Quality of Life in Cerebellar Ataxia—a Large Survey

“…Dysphagia in neurodegenerative diseases such as cerebellar ataxia, Parkinson's disease, and Huntington's disease is known to cause malnutrition, weight loss, and reduced quality of life, but can also threaten a patient's life [4,[8][9][10][11]. In Parkinson's disease, an impact on quality of life was reported, and in Huntington's disease, dysphagia correlated with disease severity and overall disability [32,33]. In cerebellar ataxia, we could now show a correlation with HRQOL, fatigue, depression, and mobility.…”