Objective: To determine if changes in swallowing function are detectable over 12 months in Friedreich ataxia

Background: Dysphagia (swallowing impairment) is present in 98% of individuals with Friedreich ataxia (FRDA), characterized by lingual and pharyngeal dysfunction (manifesting in impaired bolus preparation and transfer, and post-swallow residue in the mouth and pharynx), delayed swallow initiation, and entry of material into the airway (penetration/aspiration) (Keage, Delatycki, Gupta, Corben, & Vogel, 2017). Dysphagia has a significant negative impact on the quality of life of individuals with FRDA (Keage et al., 2017; Vogel, Brown, Folker, Corben, & Delatycki, 2014). Dysphagia is thought to correlate with disease severity and duration however no longitudinal studies describe changes in function in FRDA. The aim of the present study was to investigate the progression of dysphagia in FRDA over one year.

Methods: Twenty-three individuals with FRDA and dysphagia (confirmed via videofluoroscopy, VFSS) were assessed twice 12 months apart. The assessment battery included VFSS, a standardised oral-motor assessment (Frenchay Dysarthria Assessment-2, FDA-2; Enderby & Palmer, 2008) and a quality of life questionnaire (SWAL-QOL; McHorney et al., 2000).

Results: Data from the VFSS revealed a significant decline in tongue function, pharyngeal clearance and cricopharyngeal function on solid food. However, severity of penetration/aspiration did not increase. Swallowing-related quality of life and oral-motor function remained stable over the 12 month period.

Conclusions: A decline in function was observed at three anatomical sites important for safe and effective swallowing (tongue, pharyngeal, cricopharyngeal). However, these deficits did not appear to translate into any meaningful difference to the patient and their swallowing related health. The fluctuating nature and general progression of FRDA, level of participants’ dysphagia-awareness at follow-up assessment, and psychometric limitations of the assessment tools may have impacted on the results of this study.

References: Enderby, P. M., & Palmer, R. (2008). FDA-2: Frenchay Dysarthria Assessment: Examiner’s Manual: Pro-ed. Keage, M. J., Delatycki, M. B., Gupta, I., Corben, L. A., & Vogel, A. P. (2017). Dysphagia in Friedreich Ataxia. Dysphagia, 1-10. McHorney, C. A., Bricker, D. E., Kramer, A. E., Rosenbek, J. C., Robbins, J., Chignell, K. A., . . . Clarke, C. (2000). The SWAL-QOL outcomes tool for oropharyngeal dysphagia in adults: I. Conceptual foundation and item development. Dysphagia, 15(3), 115-121. Vogel, A. P., Brown, S. E., Folker, J. E., Corben, L. A., & Delatycki, M. B. (2014). Dysphagia and swallowing-related quality of life in Friedreich ataxia. Journal Of Neurology, 261(2), 392-399.

« Back to 2018 International Congress

MDS Abstracts - https://www.mdsabstracts.org/abstract/changes-detected-in-swallowing-function-in-friedreich-ataxia-over-12-months/