Dysphagia and swallowing-related quality of life in Friedreich ataxia

Abstract

Dysphagia in Friedreich ataxia (FRDA) and its impact on quality of life is not adequately understood. The objective of this study was to characterise dysphagia in FRDA and to determine the impact of swallowing dysfunction on activities, participation, and sense of well-being. Thirty-six individuals with a confirmed diagnosis of FRDA were assessed via a clinical bedside examination (CBE), the Royal Brisbane Hospital outcome measure for swallowing, an oral-motor examination and the Australian therapy outcome measures for speech and swallowing (AusTOMS). Data on swallowing function, diet modification and swallowing strategies were collated. Thirty-three (91.67 %) participants exhibited clinical signs of dysphagia according to the CBE, and all participants received ratings indicating swallowing difficulties on at least one other measure. Dysphagia in FRDA is characterised by oral and pharyngeal stage impairment relating to incoordination, weakness and spasticity. A significant positive correlation was found between the severity of impairment, activity, participation and distress/well-being on the AusTOMS, suggesting that swallowing function decreases with overall reductions in quality of life. A significant correlation was found between activity on the AusTOMS and disease duration (r = -0.283, p = 0.012). No significant correlations were found between dysphagia severity and GAA repeat length, age of onset or disease severity. Participants employing diet modification and swallowing strategies demonstrated higher dysphagia severity, activity limitations and participation restrictions. These data advocate a holistic approach to dysphagia management in FRDA. Early detection of swallowing impairment and consideration of the potential impact dysphagia has on quality of life should be key aspects in disease management.

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

“…We thus controlled for concurrent presence of pathologic fatigue and depression in the regression analysis. In line with our results, reduced well-being linked to dysphagia in Friedreich's ataxia has been reported [27]. Furthermore, Swal-QOL total domain score (including fatigue, sleep, and communication) has been shown to correlate with disease duration and severity in Friedreich's ataxia [28].…”

“…Patients suffering from hereditary ataxia had either positive genetic testing or a family member with genetically confirmed hereditary ataxia or strong clinical suspicion of hereditary ataxia based on pedigree, clinical presentation, and exclusion of other etiologies. Of the hereditary ataxias, 42 were autosomal dominant (28 patients with SCA 1-3, SCA 6, or SCA 17; 12 patients with SCA 11,14,27,or 28; two patients with Episodic Ataxia type 2 (EA2)), three recessive (one patient with ataxia telangiectasia and two patients classified as recessive according to pedigree analysis), and one mitochondrial ataxia. Among the sporadic ataxias, diagnosis of sporadic ataxia with onset in adulthood (SAOA) was established for 33 patients and criteria for multiple system atrophy with predominant cerebellar ataxia (MSA-C) were fulfilled in nine patients [18].…”

Dysphagia in Friedreich Ataxia

“…Symptoms typically present in teenage years and patients become nonambulant within 10-15 years of disease onset (5). Deficits include progressive gait and limb ataxia, auditory (6) and optic neuropathy (7), cardiomyopathy, scoliosis, dysarthria (8) and dysphagia (9). Cognitive function is characterised by subtle executive problems and parietotemporal dysfunction (10).…”

“…Swallowing is known to be impaired in FRDA (9) however the underlying mechanisms and characteristics FRDA-related dysphagia are not well described. The onset of dysphagia is related to GAA1 GAA1 (the shorter of the two GAA repeats) (16), however the influence of repeat length on dysphagia severity is unknown.…”

“…The only investigation of swallowing in FRDA (n=36) to date reported dysphagia in 100% of affected individuals based on noninstrumental measures of severity, including a clinical bedside examination, the Royal Brisbane Hospital Outcome Measure for Swallowing (RBHOMS) (17), and the Australian Therapy Outcome Measure for Speech and Swallowing (AusTOMS) (18). Dysphagia symptoms included coughing and choking on liquids and solids (strongly suggestive of aspiration) and nasal regurgitation (9). Further, dysphagia was s shown to affect activity, participation, and well-being, with the degree of impairment correlating with disease duration (9).…”