Skip to main content

Advertisement

SpringerLink
Log in

Health-Related Quality of Life in Patients with Inherited Ataxia in Ireland

  • RESEARCH
  • Published:
The Cerebellum Aims and scope Submit manuscript

Abstract

Inherited cerebellar ataxias (CA) are heterogeneous progressive neurological conditions associated with significant functional limitations. This study aimed to assess the implications of inherited CA on patients’ self-reported quality of life (QoL) and impairments in work and activities. 129 individuals with ataxia responded to a survey focused on QoL. Health-related QoL was measured using the RAND 36-Item Short Form Survey. An adaptation of the validated Work Productivity and Activity Impairment questionnaire was used to assess the effect of health on work productivity and ability to perform activities over the past week. Nine percent of respondents were currently employed. Individuals with inherited ataxia experienced significant activity impairment, and 75% required professional or informal care. Health-related quality of life (HRQoL) was significantly worse in all areas for the individuals with inherited ataxia compared with Irish population normative values. Participants with Friedreich’s ataxia (n = 56) demonstrated worse physical functioning then those with undetermined ataxia (n = 55). Female gender, younger age at symptom onset, current employment, retirement due to age or ataxia, and living in a long-term care facility were associated with higher sub-scores in different domains of HRQoL, while disease duration correlated with worse physical functioning sub-scores. This study is the first cross-sectional study on HRQoL in patients with inherited ataxia in Ireland. It highlights high rates of unemployment, difficulty with daily activities and physical functioning limitations, which is worse than comparative international studies. Given the limited therapeutic options currently available, optimising HRQoL is an important aspect of managing ataxia.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2

Similar content being viewed by others

Data Availability

The data that support the findings of this study are available from the corresponding author upon reasonable request.

References

  1. Coarelli G, Wirth T, Tranchant C, Koenig M, Durr A, Anheim M. The inherited cerebellar ataxias: an update. J Neurol. 2023;270(1):208–22.

    Article  PubMed  Google Scholar 

  2. Vankan P. Prevalence gradients of Friedreich’s ataxia and R1b haplotype in Europe co-localize, suggesting a common Palaeolithic origin in the Franco-Cantabrian ice age refuge. J Neurochem. 2013;126(Suppl 1):11–20.

    Article  CAS  PubMed  Google Scholar 

  3. Pandolfo M. Friedreich ataxia: the clinical picture. J Neurol. 2009;256(Suppl 1):3–8.

    Article  PubMed  Google Scholar 

  4. Rojas P, Ramírez AI, Hoz R, et al. Ocular involvement in friedreich ataxia patients and its relationship with neurological disability, a follow-up study. Diagnostics (Basel). 2020;10(2):75.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  5. Schulz JB, Boesch S, Bürk K, et al. Diagnosis and treatment of Friedreich ataxia: a European perspective. Nat Rev Neurol. 2009;5(4):222–34.

    Article  PubMed  Google Scholar 

  6. Bürk K. Friedreich ataxia: current status and future prospects. Cerebellum Ataxias. 2017;4:4.

    Article  PubMed  PubMed Central  Google Scholar 

  7. Hanson E, Sheldon M, Pacheco B, Alkubeysi M, Raizada V. Heart disease in Friedreich’s ataxia. World J Cardiol. 2019;11(1):1–12.

    Article  PubMed  PubMed Central  Google Scholar 

  8. Cortese A, Simone R, Sullivan R, et al. Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Nat Genet. 2019;51(4):649–58.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  9. Bogdanova-Mihaylova P, Hebert J, Moran S, et al. Inherited cerebellar ataxias: 5-year experience of the Irish National Ataxia Clinic. Cerebellum. 2021;20(1):54–61.

    Article  CAS  PubMed  Google Scholar 

  10. Malaquias MJ, Braz L, Santos Silva C, et al. Multisystemic RFC1-related disorder: expanding the phenotype beyond cerebellar ataxia, neuropathy, and vestibular areflexia syndrome. Neurol Clin Pract. 2023;13(5):e200190.

    Article  PubMed  Google Scholar 

  11. World Health Organization, et al. Programme on mental health: WHOQOL user manual. (No. WHO/HIS/HSI Rev. 2012.03). Geneva, Switzerland: World Health Organization; 1998.

  12. Karimi M, Brazier J. Health, health-related quality of life, and quality of life: what is the difference? Pharmacoeconomics. 2016;34(7):645–9.

    Article  PubMed  Google Scholar 

  13. Sánchez-López CR, Perestelo-Pérez L, Escobar A, López-Bastida J, Serrano-Aguilar P. Health-related quality of life in patients with spinocerebellar ataxia. Neurología (English Edition). 2017;32(3):143–51.

    Article  Google Scholar 

  14. Tai G, Yiu EM, Corben LA, Delatycki MB. A longitudinal study of the Friedreich Ataxia Impact Scale. J Neurol Sci. 2015;352(1–2):53–7.

    Article  PubMed  Google Scholar 

  15. Paulsen EK, Friedman LS, Myers LM, Lynch DR. Health-related quality of life in children with Friedreich ataxia. Pediatr Neurol. 2010;42(5):335–7.

    Article  PubMed  Google Scholar 

  16. Delmont E, Hiew FL, Cassereau J, et al. Determinants of health-related quality of life in anti-MAG neuropathy: a cross-sectional multicentre European study. J Peripher Nerv Syst. 2017;22(1):27–33.

    Article  CAS  PubMed  Google Scholar 

  17. Reetz K, Dogan I, Hilgers RD, et al. Progression characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study. Lancet Neurol. 2016;15(13):1346–54.

    Article  PubMed  Google Scholar 

  18. Johnson NE, Heatwole CR, Dilek N, et al. Quality-of-life in Charcot-Marie-Tooth disease: the patient’s perspective. Neuromuscul Disord. 2014;24(11):1018–23.

    Article  PubMed  PubMed Central  Google Scholar 

  19. Félix E, Gimenes AC, Costa-Carvalho BT. Effects of inspiratory muscle training on lung volumes, respiratory muscle strength, and quality of life in patients with ataxia telangiectasia. Pediatr Pulmonol. 2014;49(3):238–44.

    Article  PubMed  Google Scholar 

  20. Brandsema JF, Stephens D, Hartley J, Yoon G. Intermediate-dose idebenone and quality of life in Friedreich ataxia. Pediatr Neurol. 2010;42(5):338–42.

    Article  PubMed  Google Scholar 

  21. Yap KH, Azmin S, CheHamzah J, Ahmad N, van de Warrenburg B, Mohamed IN. Pharmacological and non-pharmacological management of spinocerebellar ataxia: a systematic review. J Neurol. 2022;269(5):2315–37.

    Article  PubMed  Google Scholar 

  22. Corben LA, Collins V, Milne S, et al. Clinical management guidelines for Friedreich ataxia: best practice in rare diseases. Orphanet J Rare Dis. 2022;17(1):415.

    Article  PubMed  PubMed Central  Google Scholar 

  23. Xiong E, Lynch AE, Corben LA, et al. Health related quality of life in Friedreich ataxia in a large heterogeneous cohort. J Neurol Sci. 2020;410:116642.

    Article  PubMed  Google Scholar 

  24. Wilson CL, Fahey MC, Corben LA, et al. Quality of life in Friedreich ataxia: what clinical, social and demographic factors are important? Eur J Neurol. 2007;14(9):1040–7.

    Article  CAS  PubMed  Google Scholar 

  25. Graves TD, Cha YH, Hahn AF, et al. Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation. Brain. 2014;137(Pt 4):1009–18.

    Article  PubMed  PubMed Central  Google Scholar 

  26. Santos LR, Teive HAG, Lopes Neto FDN, Macedo ACB, Mello NM, Zonta MB. Quality of life in individuals with spinocerebellar ataxia type 10: a preliminary study. Arq Neuropsiquiatr. 2018;76(8):527–33.

    Article  PubMed  Google Scholar 

  27. Kedar S, Ghate D, Murray EL, Corbett JJ, Subramony SH. Vision related quality of life in spinocerebellar ataxia. J Neurol Sci. 2015;358(1–2):404–8.

    Article  PubMed  Google Scholar 

  28. van Os NJH. Quality of life in ataxia-telangiectasia. Eur J Paediatr Neurol. 2022;40:A1.

    Article  PubMed  Google Scholar 

  29. Rönnefarth M, Hanisch N, Brandt AU, et al. Dysphagia affecting quality of life in cerebellar ataxia-a large survey. Cerebellum. 2020;19(3):437–45.

    Article  PubMed  PubMed Central  Google Scholar 

  30. Buesch K, Zhang R. A systematic review of disease prevalence, health-related quality of life, and economic outcomes associated with Friedreich’s Ataxia. Curr Med Res Opin. 2022;38(10):1739–49.

    Article  PubMed  Google Scholar 

  31. Bolzan G, Leotti VB, de Oliveira CM, et al. Quality of life since pre-ataxic phases of spinocerebellar ataxia type 3/Machado-Joseph disease. Cerebellum. 2022;21(2):297–305.

    Article  PubMed  Google Scholar 

  32. McGlashan HL, Blanchard CV, Luscombe C, et al. Quality of life and neurological disability in children and young people with ataxia telangiectasia. Eur J Paediatr Neurol. 2022;40:34–9.

    Article  PubMed  Google Scholar 

  33. Thordarson D, Silva J, Ouyang B, Bernard B, Hall D. Quality of life in fragile X-associated tremor/ataxia syndrome. Mov Disord Clin Pract. 2022;9(5):710–1.

    Article  PubMed  PubMed Central  Google Scholar 

  34. Diaféria G, Bommarito S, Braga Neto P, et al. Effect of speech therapy on quality of life in patients with spinocerebelar ataxia type 3. Arq Neuropsiquiatr. 2022;80(10):1017–25.

    Article  PubMed  PubMed Central  Google Scholar 

  35. Pérez-Flores J, Hernández-Torres A, Montón F, Nieto A. Health-related quality of life and depressive symptoms in Friedreich ataxia. Qual Life Res. 2020;29(2):413–20.

    Article  PubMed  Google Scholar 

  36. Kelly MJ, Bogdanova-Mihaylova P, Skeens J, et al. The Cost of Living with Inherited Ataxia in Ireland. Cerebellum. 2022;21(2):280–96.

    Article  PubMed  Google Scholar 

  37. Reilly_Associates. Work productivity and activity impairment questionnaire: General Health V2.0 (WPAI:GH). http://www.reillyassociates.net/WPAI_GH.html. Published 2004. Accessed 19 February, 2023.

  38. Brazier JE, Harper R, Jones NM, et al. Validating the SF-36 health survey questionnaire: new outcome measure for primary care. BMJ. 1992;305(6846):160–4.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  39. Ware JE Jr, Sherbourne CD. The MOS 36-item short-form health survey (SF-36). I. Conceptual framework and item selection. Med Care. 1992;30(6):473–83.

    Article  PubMed  Google Scholar 

  40. Blake C, Codd MB, O’Meara YM. The Short Form 36 (SF-36) Health Survey: normative data for the Irish population. Ir J Med Sci. 2000;169(3):195–200.

    Article  CAS  PubMed  Google Scholar 

  41. Motl RW, Baird JF. Health-related quality of life and physical activity in older adults with multiple sclerosis. Int J MS Care. 2023;25(1):26–9.

    Article  PubMed  Google Scholar 

  42. Martinez-Martin P, Rodriguez-Blazquez C, Forjaz MJ, Kurtis MM. Impact of Pharmacotherapy on quality of life in patients with Parkinson’s disease. CNS Drugs. 2015;29(5):397–413.

    Article  CAS  PubMed  Google Scholar 

  43. Gorcenco S, Karremo C, Puschmann A. Patients' perspective in hereditary ataxia. Cerebellum. 2022.

  44. Abele M, Klockgether T. Health-related quality of life in sporadic adult-onset ataxia. Mov Disord. 2007;22(3):348–52.

    Article  PubMed  Google Scholar 

  45. Schmitz-Hübsch T, Coudert M, Giunti P, et al. Self-rated health status in spinocerebellar ataxia–results from a European multicenter study. Mov Disord. 2010;25(5):587–95.

    Article  PubMed  Google Scholar 

  46. McGlashan HL, Blanchard CV, Luscombe C, et al. Quality of life and neurological disability in children and young people with ataxia telangiectasia. Eur J Paediatr Neurol. 2022;40:34–9.

    Article  PubMed  Google Scholar 

  47. Ejaz R, Chen S, Isaacs CJ, et al. Impact of mobility device use on quality of life in children with Friedreich ataxia. J Child Neurol. 2018;33(6):397–404.

    Article  PubMed  Google Scholar 

  48. Cholewa J, Gorzkowska A, Nawrocka A, Cholewa J. Quality of life of people with Parkinson’s disease in the context of professional work and physiotherapy. Med Pr. 2017;68(6):725–34.

    PubMed  Google Scholar 

  49. Ophey A, Eggers C, Dano R, Timmermann L, Kalbe E. Health-related quality of life subdomains in patients with Parkinson’s disease: the role of gender. Parkinsons Dis. 2018;2018:6532320.

    PubMed  PubMed Central  Google Scholar 

  50. Joyce MR, Nadkarni PA, Kronemer SI, et al. Quality of life changes following the onset of cerebellar ataxia: symptoms and concerns self-reported by ataxia patients and informants. Cerebellum. 2022;21(4):592–605.

    Article  PubMed  Google Scholar 

Download references

Acknowledgements

We would like to thank Ataxia Ireland and all participants involved in this study. We would like to thank Aravind Jayadev Menon for assistance with statistical analysis of the data.

Author information

Authors and Affiliations

  1. Department of Neurology, Tallaght University Hospital, Dublin, Ireland

    Poornima Jayadev Menon, Sharon Moran, Richard A. Walsh, Sinéad M. Murphy & Petya Bogdanova-Mihaylova

  2. School of Postgraduate Studies, Royal College of Surgeons in Ireland, Dublin, Ireland

    Poornima Jayadev Menon

  3. School of Medicine, Trinity College Dublin, Dublin, Ireland

    Tan Xin Yi

  4. Academic Unit of Neurology, Trinity College Dublin, Dublin, Ireland

    Richard A. Walsh & Sinéad M. Murphy

Authors
  1. Poornima Jayadev Menon
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Tan Xin Yi
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Sharon Moran
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Richard A. Walsh
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Sinéad M. Murphy
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Petya Bogdanova-Mihaylova
    View author publications

    You can also search for this author in PubMed Google Scholar

Contributions

PJM was involved in the analysis and interpretation of the data and drafting of the manuscript. PBM, RW and SMM were involved in the conception and acquisition of data and in revising of the manuscript. TXY was involved in the acquisition and analysis of the data. SM was involved in the acquisition of the data. All authors agree to be accountable for all aspects of this work and have approved the final version to be published.

Corresponding author

Correspondence to Poornima Jayadev Menon.

Ethics declarations

Ethics Approval

This study was granted ethical approval by the SJH/AMNCH Research Ethics Committee.

Consent to Participate

Completion of the survey anonymously was taken as implied consent to participate.

Competing Interests

The authors declare no financial or other conflicts of interest.

Additional information

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Richard A. Walsh, Sinéad M. Murphy, and Petya Bogdanova-Mihaylova are members of the European Reference Network for Rare Neurological Diseases (Project ID No 739510).

Supplementary Information

Below is the link to the electronic supplementary material.

Supplementary file1 (DOCX 34 KB)

Rights and permissions

Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Menon, P.J., Yi, T.X., Moran, S. et al. Health-Related Quality of Life in Patients with Inherited Ataxia in Ireland. Cerebellum (2023). https://doi.org/10.1007/s12311-023-01640-3

Download citation

  • Accepted:

  • Published:

  • DOI: https://doi.org/10.1007/s12311-023-01640-3

Keywords

Search

Navigation