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Dysphagia in Friedreich Ataxia

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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.

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References

  1. Koeppen AH. Friedreich’s ataxia: pathology, pathogenesis, and molecular genetics. J Neurol Sci. 2011;303:1–12.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  2. Delatycki MB, Williamson R, Forrest SM. Friedreich ataxia: an overview. J Med Genet. 2000;37:1–8.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  3. Yiu EM, Tai G, Peverill RE, Lee KJ, Croft KD, Mori TA, Scheiber-Mojdehkar B, Sturm B, Praschberger M, Vogel AP, Rance G. An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levels. J Neurol. 2015;262(5):1344–53.

    Article  CAS  PubMed  Google Scholar 

  4. Corben LA, Lynch D, Pandolfo M, Schulz JB, Delatycki MB, On behalf of the Clinical Management Guidelines Writing Group. Consensus clinical management guidelines for Friedreich ataxia. Orphanet J Rare Dis. 2014;9:184.

    Article  PubMed  PubMed Central  Google Scholar 

  5. Klockgether T, Ludtke R, Kramer B, Abele M, Burk K, Schols L, Riess O, Laccone F, Boesch S, Lopes-Cendes I, Brice A, Inzelberg R, Zilber N, Dichgans J. The natural history of degenerative ataxia: a retrospective study in 466 patients. Brain. 1998;121(Pt 4):589–600.

    Article  PubMed  Google Scholar 

  6. Rance G, Fava R, Baldock H, Chong A, Barker E, Corben LA, Delatycki MB. Speech perception ability in individuals with Friedreich ataxia. Brain. 2008;131:2002–12.

    Article  PubMed  Google Scholar 

  7. Fahey MC, Cremer PD, Aw ST, Millist L, Todd MJ, White OB, Halmagyi M, Corben LA, Collins V, Churchyard AJ, Tan K, Kowal L, Delatycki MB. Vestibular, saccadic and fixation abnormalities in genetically confirmed Friedreich ataxia. Brain. 2008;131:1035–45.

    Article  PubMed  Google Scholar 

  8. Folker JE, Murdoch BE, Cahill LM, Delatycki MB, Corben LA, Vogel AP. Dysarthria in Friedreich’s ataxia: a perceptual analysis. Folia Phoniatrica et Logopaedia. 2010;62:97–103.

    Article  Google Scholar 

  9. Vogel AP, Brown SE, Folker JE, Corben LA, Delatycki MB. Dysphagia and swallowing related quality of life in Friedreich ataxia. J Neurol. 2014;261:392–9.

    Article  PubMed  Google Scholar 

  10. Nieto A, Correia R, de Nóbrega E, Montón F, Hess S, Barroso J. Cognition in Friedreich Ataxia. Cerebellum. 2012;11:834–44.

    Article  PubMed  Google Scholar 

  11. Gibilisco P, Vogel AP. Friedreich ataxia. BMJ. 2013;3(347):f7062.

    Article  Google Scholar 

  12. Selvadurai LP, Harding IH, Corben LA, Stagnitti MR, Storey E, Egan GF, Delatycki MB, Georgiou-Karistianis N. Cerebral and cerebellar grey matter atrophy in Friedreich ataxia: the IMAGE-FRDA study. J Neurol. 2016;263(11):2215–23.

  13. Tsou AY, Paulsen EK, Lagedrost SJ, Perlman SL, Mathews KD, Wilmot GR, Ravina B, Koeppen AH, Lynch DR. Mortality in Friedreich Ataxia. J Neurol Sci. 2011;307:46–9.

    Article  PubMed  Google Scholar 

  14. Ekberg O, Hamdy S, Woisard V, Wuttge-Hannig A, Ortega P. Social and psychological burden of dysphagia: its impact on diagnosis and treatment. Dysphagia. 2002;17:139–46.

    Article  PubMed  Google Scholar 

  15. Tjaden K. Speech and Swallowing in Parkinson’s Disease. Top Geriatr Rehabil. 2008;24:115–26.

    Article  PubMed  PubMed Central  Google Scholar 

  16. Schöls L, Amoiridis G, Przuntek H, Frank G, Epplen JT, Epplen C. Friedreich’s ataxia. Revision of the phenotype according to molecular genetics. Brain. 1997;120:2131–40.

    Article  PubMed  Google Scholar 

  17. Ward EC, Conroy AL. Validity, reliability and responsivity of the Royal Brisbane Hospital outcome measure for swallowing. Asia Pac J Speech Lang Hear. 1999;4(2):109–29.

  18. Perry A, Morris M, Unsworth C, Duckett S, Skeat J, Dodd K, Taylor N, Reilly K. Therapy outcome measures for allied health practitioners in Australia: the AusTOMs. Int J Qual Health Care. 2004;16:285–91.

    Article  PubMed  Google Scholar 

  19. Subramony S, May W, Lynch D, Gomez C, Fischbeck K, Hallett M, Taylor P, Wilson R, Ashizawa T. Measuring Friedreich ataxia: interrater reliability of a neurologic rating scale. Neurology. 2005;64:1261–2.

    Article  CAS  PubMed  Google Scholar 

  20. McHorney CA, Bricker DE, Kramer AE, Rosenbek JC, Robbins J, Chignell KA, Logemann JA, Clarke C. The SWAL-QOL outcomes tool for oropharyngeal dysphagia in adults: I. Conceptual foundation and item development. Dysphagia. 2000;15:115–21.

    Article  CAS  PubMed  Google Scholar 

  21. Enderby P, Palmer R. Frenchay Dysarthria Assessment -. 2nd ed. Austin: Pro-Ed; 2008.

    Google Scholar 

  22. Delatycki MB, Corben LA. Clinical features of Friedreich ataxia. J Child Neurol. 2012;27:1133–7.

    Article  PubMed  PubMed Central  Google Scholar 

  23. Scott A, Perry A, Bench J. A study of interrater reliability when using videofluoroscopy as an assessment of swallowing. Dysphagia. 1998;13:223–7.

    Article  CAS  PubMed  Google Scholar 

  24. Rosenbek JC, Robbins JA, Roecker EB, Coyle JL, Wood JL. A penetration-aspiration scale. Dysphagia. 1996;11:93–8.

    Article  CAS  PubMed  Google Scholar 

  25. Cohen J. Statistical power analysis for the behavioral sciences. 2nd ed. Hillsdale: Lawrence Earlbaum Associates; 1988.

    Google Scholar 

  26. Robbins J, Coyle J, Rosenbek J, Roecker E, Wood J. Differentiation of normal and abnormal airway protection during swallowing using the penetration-aspiration scale. Dysphagia. 1999;14:228–32.

    Article  CAS  PubMed  Google Scholar 

  27. Leder SB, Suiter DM, Green BG. Silent aspiration risk is volume-dependent. Dysphagia. 2011;26:304–9.

    Article  PubMed  Google Scholar 

  28. Koopman WJ, Wiebe S, Colton-Hudson A, Moosa T, Smith D, Bach D, Nicolle MW. Prediction of aspiration in myasthenia gravis. Muscle Nerve. 2004;29:256–60.

    Article  PubMed  Google Scholar 

  29. Hammond CAS, Goldstein LB, Horner RD, Ying J, Gray L, Gonzalez-Rothi L, Bolser DC. Predicting aspiration in patients with ischemic stroke: comparison of clinical signs and aerodynamic measures of voluntary cough. CHEST Journal. 2009;135:769–77.

    Article  Google Scholar 

  30. Holmes K, Michael S, Thorpe S, Solomonidis S. Management of scoliosis with special seating for the non-ambulant spastic cerebral palsy population—a biomechanical study. Clin Biomech. 2003;18:480–7.

    Article  CAS  Google Scholar 

  31. McFarland D, Lund J, Gagner M. Effects of posture on the coordination of respiration and swallowing. J Neurophysiol. 1994;72:2431–7.

    CAS  PubMed  Google Scholar 

  32. Martin-Harris B Coordination of respiration and swallowing. GI Motility online 2006.

  33. Pandolfo M. Friedreich ataxia: the clinical picture. J Neurol. 2009;256:3–8.

    Article  PubMed  Google Scholar 

  34. Morral JA, Davis AN, Qian J, Gelman BB, Koeppen AH. Pathology and pathogenesis of sensory neuropathy in Friedreich’s ataxia. Acta Neuropathol. 2010;120:97–108.

    Article  PubMed  Google Scholar 

  35. Butler SG, Stuart A, Leng X, Rees C, Williamson J, Kritchevsky SB. Factors influencing aspiration during swallowing in healthy older adults. Laryngoscope. 2010;120:2147–52.

    Article  PubMed  PubMed Central  Google Scholar 

  36. Vogel AP, Keage MJ, Johansson K, Schalling E. Treatment for dysphagia (swallowing difficulties) in hereditary ataxia. Cochrane Database of Systematic Reviews, CD010169. 2015. doi:10.1002/14651858.CD010169.pub2.

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Acknowledgements

The authors wish to thank the participants for their involvement in this study and the staff at the Friedreich Ataxia Clinic and Monash Health Diagnostic Imaging departments for assistance with subject recruitment and VFSS, respectively.

Funding

National Health and Medical Research Council of Australia (APV holds a Career Development Fellowship ID 1082910), Australian Government (MK holds an Australian Postgraduate Award), and The University of Melbourne.

Author information

Authors and Affiliations

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

    Megan J. Keage, Isabelle Gupta & Adam P. Vogel

  2. Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia

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

  3. Clinical Genetics, Austin Health, Melbourne, Australia

    Martin B. Delatycki

  4. School of Psychological Sciences, Monash University, Melbourne, Australia

    Louise A. Corben

  5. Department of Paediatrics, The University of Melbourne, Melbourne, Australia

    Louise A. Corben

  6. Monash Health, Melbourne, Australia

    Louise A. Corben

  7. Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany

    Adam P. Vogel

  8. Redenlab Pty Ltd, Melbourne, Australia

    Adam P. Vogel

Authors
  1. Megan J. Keage
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  2. Martin B. Delatycki
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  3. Isabelle Gupta
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  4. Louise A. Corben
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  5. Adam P. Vogel
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Corresponding author

Correspondence to Adam P. Vogel.

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Keage, M.J., Delatycki, M.B., Gupta, I. et al. Dysphagia in Friedreich Ataxia. Dysphagia 32, 626–635 (2017). https://doi.org/10.1007/s00455-017-9804-4

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  • DOI: https://doi.org/10.1007/s00455-017-9804-4

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