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Dysphagia and swallowing-related quality of life in Friedreich ataxia

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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.

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Acknowledgments

Our gratitude goes to those individuals who participated in the research. We thank the Friedreich Ataxia Research Association (Australasia) and Friedreich Ataxia Research Alliance (USA) for supporting our research. APV and LC are funded by National Health and Medical Research Council of Australia (NHMRC) Early Career Fellowships. MBD is a NHMRC Practitioner Fellow.

Conflicts of interest

None of the authors declare a conflict of interest.

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Authors and Affiliations

  1. Speech Neuroscience Unit, The University of Melbourne, 550 Swanston Street, Parkville, Melbourne, VIC, 3010, Australia

    Adam P. Vogel & Sophie E. Brown

  2. School of Health and Rehabilitation Sciences, The University of Queensland, Brisbane, QLD, Australia

    Joanne E. Folker

  3. Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, VIC, Australia

    Adam P. Vogel, Louise A. Corben & Martin B. Delatycki

  4. Department of Clinical Genetics, Austin Health, Heidelberg, VIC, Australia

    Martin B. Delatycki

Authors
  1. Adam P. Vogel
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  2. Sophie E. Brown
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  3. Joanne E. Folker
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  4. Louise A. Corben
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  5. Martin B. Delatycki
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Corresponding author

Correspondence to Adam P. Vogel.

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A. P. Vogel and S. E. Brown are joint first authors.

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Vogel, A.P., Brown, S.E., Folker, J.E. et al. Dysphagia and swallowing-related quality of life in Friedreich ataxia. J Neurol 261, 392–399 (2014). https://doi.org/10.1007/s00415-013-7208-4

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  • DOI: https://doi.org/10.1007/s00415-013-7208-4

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