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Management of dysphagia in Huntington’s disease: a descriptive review

Neurological Sciences volume 41, pages 1405–1417 (2020)Cite this article

Abstract

Huntington’s disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by involuntary choreatic movements, cognitive, behavioral, and psychiatric disturbances. Most HD suffer from dysphagia and aspiration pneumonia is the leading cause of death. However, little is known about dysphagia management in HD. A revision of the literature was conducted to depict the state of the art on the assessment and treatment of dysphagia in HD. Literature search of the last 10 years was performed using PubMed and EMBASE. Twenty-four studies were included: 16 cross-sectional studies, 2 case reports, 2 case series, 2 open-label trials, 1 pre-post study, and 1 randomized controlled trial. Based on the studies retrieved, dysphagia should be assessed from the early stage of the disease, especially when specific clinical markers occur. Timing for dysphagia re-assessment should be based on the recommendation of the swallowing experts on the individual case. Instrumental assessment of swallowing by videofluoroscopy or videoendoscopy is feasible and recommended to diagnose dysphagia in patients with HD. Clinical assessment tools and patient-reported outcome measures may be used to complete the swallowing examination, but not to replace instrumental assessment. The impact of pharmacological and rehabilitative treatments on dysphagia in HD has been little studied in literature. While the effect of tetrabenazine on swallowing is still controversial, compensatory strategies seem to be applicable and efficacious. To date, there are no well-proven rehabilitative strategies to improve swallowing function in patients with HD. The topic of dysphagia in HD remains poorly studied compared with its clinical relevance.

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References

  1. Bates G, Tabrizi S, Jones L (2014) Huntington’s disease, 4th edn. Oxford University Press, Oxford

    Google Scholar 

  2. Ross CA, Tabrizi SJ (2011) Huntington’s disease: from molecular pathogenesis to clinical treatment. Lancet Neurol 10:83–98

    CAS  PubMed  Article  Google Scholar 

  3. Walker FO (2007) Huntington’s disease. Lancet 369:218–228

    CAS  PubMed  Article  Google Scholar 

  4. Leopold N, Kagel M (1985) Dysphagia in Huntington’s disease. Arch Neurol 42:57–60

    CAS  PubMed  Article  Google Scholar 

  5. Kagel MC, Leopold NA (1992) Dysphagia in Huntington’s disease: a 16-year retrospective. Dysphagia 7:106–114

    CAS  PubMed  Article  Google Scholar 

  6. Schradt F, Geitner C, Lindner-Pfleghar B, Rea D, Hamilton A, Lang C et al (2016) Dysphagia in Huntington’s disease (HD): a longitudinal, observational study. J Neurol Neurosurg Psychiatry 87:A57

    Article  Google Scholar 

  7. Heemskerk A, Roos RAC (2012) Aspiration pneumonia and death in Huntington’s disease. PLoS Curr 3:24–28

    Google Scholar 

  8. Lanska DJ, Lanska MJ, Lavine L, Schoenberg BS (1988) Conditions associated with Huntington’s disease at death. A case-control study. Arch Neurol 45:878–880

    CAS  PubMed  Article  Google Scholar 

  9. Mariscal N, Cubo E, Rivadeneyra J, Armesto D, Mateos A, Cámara R et al (2014) Dysphagia in Huntington’s disease: a multicenter study. J Neurol Neurosurg Psychiatry 85:A59–A60

    Article  Google Scholar 

  10. Heemskerk A-W, Roos RAC (2011) Dysphagia in Huntington’s disease: a review. Dysphagia 26:62–66

    PubMed  Article  Google Scholar 

  11. Carlozzi NE, Schilling S, Kratz AL, Paulsen JS, Frank S, Stout JC (2018) Understanding patient-reported outcome measures in Huntington disease: at what point is cognitive impairment related to poor measurement reliability? Qual Life Res 27:2541–2555

    CAS  PubMed  PubMed Central  Article  Google Scholar 

  12. Heemskerk A, Marinus J, Roos R, Verbist B (2015) Swallowing impairment in Huntington’s disease: videofluoroscopic findings. Leiden University Repository https://openaccess.leidenuniv.nl/bitstream/handle/1887/32744/05.pdf?sequence=10.

  13. Dello Monaco A, Nuzzi A, Parente A, Lavermicocca V, Chiarelli T, De Tommaso M et al (2014) Swallowing function in the early, middle and late stages of Huntington’s disease. J Neurol Neurosurg Psychiatry 85:A58

    Article  Google Scholar 

  14. Schradt F, Geitner C, Lindner-Pfleghar B, Süssmuth SD, Weydt P (2014) Dysphagic symptoms in Huntington disease stages. J Neurol Neurosurg Psychiatry 85:A59

    Article  Google Scholar 

  15. de Tommaso M, Nuzzi A, Dellomonaco AR, Sciruicchio V, Serpino C, Cormio C, Franco G, Megna M (2015) Dysphagia in Huntington’s disease: correlation with clinical features. Eur Neurol 74:49–53

    PubMed  Article  CAS  Google Scholar 

  16. Calasans dos Santos B, Lima DP, Azevedo PC, Mourao LF (2016) The role of genetics and cognition in Huntington’s disease dysphagia. Dysphagia 31:832

    Google Scholar 

  17. Schradt F, Geitner C, Lang C, Weydt P, Süßmuth S, Lindner-Pfleghar B, Landwehrmeye GB (2018) Dysphagia in Huntington’s disease – an observational study. J Neurol Neurosurg Psychiatry 89:A1–A112

    Google Scholar 

  18. Giraldo-Cadavid LF, Leal-Leano LR, Leon-Basantes GA, Bastidas AR, Garcia R, Ovalle S et al (2017) Accuracy of endoscopic and videofluoroscopic evaluations of swallowing for oropharyngeal dysphagia. Laryngoscope 127:2002–2010

    PubMed  Article  Google Scholar 

  19. Schindler A, Ginocchio D, Lazzari L, Rossi A, Banfi P, Silani V et al (2017) FEES in patients with Huntington disease: applicability and preliminary data. Dysphagia 32:164

    Google Scholar 

  20. Manor Y, Oestreicher-Kedem Y, Gad A, Zitser J, Faust-Socher A, Shpunt D, Naor S, Inbar N, Kestenbaum M, Giladi N, Gurevich T (2018) Dysphagia characteristics in Huntington’s disease patients: insights from the fiberoptic endoscopic evaluation of swallowing and the swallowing disturbances questionnaire. CNS Spectrums:1–6

  21. Brady S, Donizelli J (2013) The modified barium swallow and the functional endoscopic evaluation of swallowing. Otolaryngol Clin N Am 46:1009–1022

    Article  Google Scholar 

  22. Lee TH, Lee JS, Kim WJ (2012) High resolution impedance manometric findings in dysphagia of Huntington’s disease. World J Gastroenterol 18:1695–1699

    PubMed  PubMed Central  Article  Google Scholar 

  23. Omari T, Schar M (2018) High-resolution manometry: what about the pharynx? Curr Opin Otolaryngol Head Neck Surg 26:382–391

    PubMed  Article  Google Scholar 

  24. Alfonsi E, Versino M, Merlo IM, Pacchetti C, Martignoni E, Bertino G, Moglia A, Tassorelli C, Nappi G (2007) Electrophysiologic patterns of oral-pharyngeal swallowing in parkinsonian syndromes. Neurology 68:583–589

    CAS  PubMed  Article  Google Scholar 

  25. Cosentino G, Alfonsi E, Mainardi L, Alvisi E, Brighina F, Valentino F, Fierro B, Sandrini G, Bertino G, Berlangieri M, de Icco R, Fresia M, Moglia A (2017) The importance of the reproducibility of oropharyngeal swallowing in amyotrophic lateral sclerosis. An electrophysiological study. Clin Neurophysiol 128:792–798

  26. Vaiman M, Eviatar E (2009) Surface electromyography as a screening method for evaluation of dysphagia and odynophagia. Head Face Med 5:9

    PubMed  PubMed Central  Article  Google Scholar 

  27. Garon BR, Sierzant T, Ormiston C (2009) Silent aspiration: results of 2,000 video fluoroscopic evaluations. J Neurosci Nurs 41:186–187

    Article  Google Scholar 

  28. Smithard DG, O’Neill PA, Park C, England R, Renwick DS, Wyatt R, Morris J, Martin DF (1998) North West Dysphagia Group. Can bedside assessment reliably exclude aspiration following acute stroke? Age Ageing 27:99–106

  29. Bours GJ, Speyer R, Lemmens J, Limburg M, de Wit R (2009) Bedside screening tests vs. videofluoroscopy or fibreoptic endoscopic evaluation of swallowing to detect dysphagia in patients with neurological disorders: systematic review. J Adv Nurs 65:477–493

    PubMed  Article  Google Scholar 

  30. Kertscher B, Speyer R, Palmieri M, Plant C (2014) Bedside screening to detect oropharyngeal dysphagia in patients with neurological disorders: an updated systematic review. Dysphagia 29:204–212

    PubMed  Article  Google Scholar 

  31. Belafsky PC, Mouadeb DA, Rees CJ, Pryor JC, Postma GN, Allen J, Leonard RJ (2008) Validity and reliability of the Eating Assessment Tool (EAT-10). Ann Otol Rhinol Laryngol 117:919–924

    PubMed  Article  Google Scholar 

  32. Cordier R, Joosten A, Clavé P, Schindler A, Bülow M, Demir N, Arslan SS, Speyer R (2017) Evaluating the psychometric properties of the Eating Assessment Tool (EAT-10) using Rasch analysis. Dysphagia 32:250–260

    CAS  PubMed  Article  Google Scholar 

  33. Heemskerk A, Verbist BM (2014) The Huntington’s disease dysphagia scale. Mov Disord 29:1312–1316

    PubMed  Article  Google Scholar 

  34. Carlozzi NE, Schilling SG, Lai JS, Perlmutter JS, Nance MA, Wajee JF et al (2016) HDQLIFE: the development of two new computer adaptive tests for use in Huntington disease, Speech Difficulties and Swallowing Difficulties. Qual Life Res 25:2417–2427

    CAS  PubMed  PubMed Central  Article  Google Scholar 

  35. Higgins DSJ (2006) Huntington’s disease. Curr Treat Options Neurol 8:236–244

    PubMed  Article  Google Scholar 

  36. Ward KM, Citrome L (2018) Antipsychotic-related movement disorders: drug-induced parkinsonism vs. tardive dyskinesia-key differences in pathophysiology and clinical management. Neurol Ther 7:233–248

    PubMed  PubMed Central  Article  Google Scholar 

  37. Group HS (2006) Tetrabenazine as antichorea therapy in Huntington disease: a randomized controlled trial. Neurology 66:366–372

    Article  CAS  Google Scholar 

  38. Frank S (2009) Tetrabenazine as anti-chorea therapy in Huntington disease: an open-label continuation study. Huntington Study Group/TETRA-HD Investigators BMC Neurol 10:62

    Google Scholar 

  39. Shen V, Clarence-Smith K, Hunter C, Jankovic J (2013) Safety and efficacy of tetrabenazine and use of concomitant medications during long-term, open-label treatment of chorea associated with Huntington’s and other diseases. Tremor Other Hyperkinet Mov (NY) 3:tre-03-191-4337-1. doi:https://doi.org/10.7916/D8BK1B2D

  40. Heemskerk AW (2016) Dysphagia in Huntington’s disease: symptoms and a patient perspective. J Neurol Neurosurg Psychiatry 87:A56.4–A5A57

    Article  Google Scholar 

  41. Logemann JA (1994) Rehabilitation of oropharyngeal swallowing disorders. Acta Otorhinolaryngol Belg 48:207–215

    CAS  PubMed  Google Scholar 

  42. Reyes A, Cruickshank T, Nosaka K, Ziman M (2015) Respiratory muscle training on pulmonary and swallowing function in patients with Huntington’s disease: a pilot randomised controlled trial. Clin Rehabil 29:961–973

    PubMed  Article  Google Scholar 

  43. Kerkdijk E, van der Laak M, Nieuwkamp M, van Dusseldorp L (2018) Applicability and experiences of SilverFit Rephagia by patients with Huntington’s disease in day care. J Neurol Neurosurg Psychiatry 89:A1–A112

    Google Scholar 

  44. Goldberg LS, Altman KW (2014) The role of gastrostomy tube placement in advanced dementia with dysphagia: a critical review. Clin Interv Aging 9:1733–1739

    PubMed  PubMed Central  Article  Google Scholar 

  45. Miller RG, Jackson CE, Kasarskis EJ, England JD, Forshew D, Johnston W, et al (2009) Practice parameter update: the care of the patient with amyotrophic lateral sclerosis: multidisciplinary care, symptom management, and cognitive/behavioral impairment (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology. Neurology 73:1227–1233

  46. EFNS Task Force on Diagnosis and Management of Amyotrophic Lateral Sclerosis: PM, Andersen PM, Abrahams S, Borasio GD, de Carvalho M, Chio A, et al (2012) EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)-revised report of an EFNS task force. Eur J Neurol 19:360–375

  47. Schumann B, Reetz K, Dogan I, Mirzazade S, Honrath P, Overbeck R, Schradt F, Weydt P, Werner C (2018) Neuronal correlates and clinical predictors for dysphagia in Huntington’s disease. J Neurol Neurosurg Psychiatry 89:A1–A112

    Google Scholar 

  48. Boileau NR, Roberts A, Hanifan DL, Mowers Provost E, Dayalu P, Miner JA, Claassen D, Carlozzi NE (2018) Understanding speech and swallowing difficulties in individuals with Huntington disease: validation of the HDQLIFE speech difficulties and swallowing difficulties item banks. Neurotherapeutics 15:1168–1214

    Article  Google Scholar 

  49. Vogel A, Pointon L, Maule R, Churchyard A (2011) Clinical features of dyshpagia and swallowing deficits in Huntington’s disease: a descriptive videofluoroscopic study. Clin Genet 80:60

    Google Scholar 

  50. Süssmuth S, Schradt F, Eschenbach C, Orth M, Weydt P, Lindner-Pfleghar B et al (2012) Assessing dysphagia in Huntington’s disease using fiberoptic endoscopic evaluation of swallowing (FEES). J Neurol Neurosurg Psychiatry 83:A44

    Article  Google Scholar 

  51. Alves TC, Cola PC, dos Santos RRD, Motonaga SM, Silva RG (2016) Swallowing endoscopy findings in Huntington’s disease: a case report. CoDAS 28:486–488

    PubMed  Article  Google Scholar 

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Affiliations

  1. Phoniatric Unit, Department of Biomedical and Clinical Sciences “L. Sacco”, University of Milan, Via GB Grassi 74, 20157, Milan, Italy

    Nicole Pizzorni, Francesca Pirola & Antonio Schindler

  2. Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Piazzale Brescia 20, 20145, Milan, Italy

    Andrea Ciammola

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  1. Nicole Pizzorni
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  2. Francesca Pirola
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  3. Andrea Ciammola
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  4. Antonio Schindler
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Contributions

Conceptualization: Antonio Schindler and Andrea Ciammola; literature search and data analysis: Nicole Pizzorni and Francesca Pirola; writing—original draft preparation: Nicole Pizzorni and Francesca Pirola; writing review and editing: Nicole Pizzorni, Francesca Pirola, Andrea Ciammola, and Antonio Schindler; supervision: Antonio Schindler and Andrea Ciammola.

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Correspondence to Nicole Pizzorni.

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Pizzorni, N., Pirola, F., Ciammola, A. et al. Management of dysphagia in Huntington’s disease: a descriptive review. Neurol Sci 41, 1405–1417 (2020). https://doi.org/10.1007/s10072-020-04265-0

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  • DOI: https://doi.org/10.1007/s10072-020-04265-0

Keywords

  • Huntington’s disease
  • Deglutition
  • Deglutition disorders
  • Dysphagia
  • Diagnosis
  • Treatment