Dysphagia in Friedreich Ataxia

Abstract

The objective of the study was to comprehensively characterise dysphagia in Friedreich ataxia (FRDA) and identify predictors of penetration/aspiration during swallowing. We also investigated the psychosocial impact of dysphagia on individuals with FRDA. Sixty participants with FRDA were screened for dysphagia using a swallowing quality of life questionnaire (Swal-QOL) and case history. Individuals reporting dysphagia underwent a standardised oromotor assessment (Frenchay Dysarthria Assessment, 2, FDA-2) and videofluoroscopic study of swallowing (VFSS). Data were correlated with disease parameters (age at symptom onset, age at assessment, disease duration, FXN intron 1 GAA repeat sizes, and Friedreich Ataxia Rating Scale (FARS) score). Predictors of airway penetration/aspiration were explored using logistic regression analysis. Ninety-eight percent (59/60) of participants reported dysphagia, of whom 35 (58.3%) underwent FDA-2 assessment, and 38 (63.3%) underwent VFSS. Laryngeal, respiratory, and tongue dysfunction was observed on the FDA-2. A Penetration-Aspiration Scale score above 3 (deemed significant airway compromise based on non-clinical groups) was observed on at least one consistency in 13/38 (34.2%) participants. All of those who aspirated (10/38, 26.3%) did so silently, with no overt signs of airway entry such as reflexive cough. Significant correlations were observed between dysphagic symptoms and disease duration and severity. No reliable predictors of penetration or aspiration were identified. Oropharyngeal dysphagia is commonly present in individuals with FRDA and worsens with disease duration and severity. Individuals with FRDA are at risk of aspiration at any stage of the disease and should be reviewed regularly. Instrumental analysis remains the only reliable method to detect aspiration in this population. Dysphagia significantly affects the quality of life of individuals with FRDA.

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

“…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]. We did not find a correlation with disease duration in our data and results remained unchanged when using the total Swal-QOL score including the above-mentioned domains.…”

“…Similar sum score comparing non-dysphagic and control group (c; Rinkel et al [26]; p = 0.06 (t test)), significant differences for domain scores are marked. Error bars = standard deviation; **p < 0.001; *p = 0.003 questionnaire in comparison to apparatus-assisted examination is less costly, independent of the clinical setting, better tolerated, and could guide further complex evaluation, e.g., videofluoroscopy to detect silent aspiration [28]. In a recent study, only 63% of dysphagic patients with Friedreich's ataxia could be admitted to further evaluation by videofluorescopy, illustrating the difficulty of apparatus-assisted diagnostic procedure for dysphagia in ataxia patients even under study conditions [28].…”

“…Error bars = standard deviation; **p < 0.001; *p = 0.003 questionnaire in comparison to apparatus-assisted examination is less costly, independent of the clinical setting, better tolerated, and could guide further complex evaluation, e.g., videofluoroscopy to detect silent aspiration [28]. In a recent study, only 63% of dysphagic patients with Friedreich's ataxia could be admitted to further evaluation by videofluorescopy, illustrating the difficulty of apparatus-assisted diagnostic procedure for dysphagia in ataxia patients even under study conditions [28]. In that study, dysphagia was evaluated in 60 patients with Friedreich's ataxia using standardized oromotor assessment and videofluoroscopy, as compared to mainly late onset ataxia patients in our study.…”

“…In that study, dysphagia was evaluated in 60 patients with Friedreich's ataxia using standardized oromotor assessment and videofluoroscopy, as compared to mainly late onset ataxia patients in our study. The authors focused on silent aspiration, which was found in 34% of patients undergoing videofluorescopy and was related to repeat-length and two subscores in oromotor assessment, but could not be predicted reliably [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].…”