Health-related quality of life and depressive symptoms in Friedreich ataxia

Abstract

Purpose

Friedreich ataxia (FRDA) is a chronic, progressive and highly disabling cerebellar degenerative disease. Despite this, little attention has been paid to the health-related quality of life (HRQOL) in this disease. The aim of the present study was to assess FRDA patients’ perception of HRQOL and to determine the influence of depression, and demographic and clinical variables.

Method

The sample consisted of 62 patients with genetically confirmed FRDA. The SF-36 Health Survey was used to assess HRQOL. Depressive symptoms were evaluated with the Beck Depression Inventory-II.

Results

FRDA patients’ mean scores were significantly lower than the values for the Spanish population in all SF36 dimensions. Average z scores ranged from − 5.5 in physical functioning to − 0.48 in mental health. Age and clinical variables were significant predictors of HRQOL in only several dimensions, whereas BDI scores were able to predict a significant percentage of variance in all SF36 dimensions, except physical functioning.

Conclusions

Our study demonstrates the high impact of Friedreich ataxia on quality of life. This impact does not only occur in those aspects most related to motor disability but it is also present in non-motor dimensions. Depressive symptomatology is the most relevant variable for predicting quality of life.

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References

  1. 1.

    Salman, M. S. (2018). Epidemiology of cerebellar diseases and therapeutic approaches. Cerebellum (London, England),17(1), 4–11. https://doi.org/10.1007/s12311-017-0885-2.

    Article  Google Scholar 

  2. 2.

    Vankan, P. (2013). 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. Journal of Neurochemistry,126(Suppl 1), 11–20. https://doi.org/10.1111/jnc.12215.

    CAS  Article  PubMed  Google Scholar 

  3. 3.

    Campuzano, V., Montermini, L., Moltò, M. D., Pianese, L., Cossée, M., Cavalcanti, F., et al. (1996). Friedreich’s ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science (New York, N.Y.),271(5254), 1423–1427.

    CAS  Article  Google Scholar 

  4. 4.

    Bürk, K. (2017). Friedreich Ataxia: Current status and future prospects. Cerebellum & Ataxias,4, 4. https://doi.org/10.1186/s40673-017-0062-x.

    Article  Google Scholar 

  5. 5.

    Delatycki, M. B., & Corben, L. A. (2012). Clinical features of Friedreich ataxia. Journal of Child Neurology,27(9), 1133–1137. https://doi.org/10.1177/0883073812448230.

    Article  PubMed  PubMed Central  Google Scholar 

  6. 6.

    Parkinson, M. H., Boesch, S., Nachbauer, W., Mariotti, C., & Giunti, P. (2013). Clinical features of Friedreich’s ataxia: Classical and atypical phenotypes. Journal of Neurochemistry,126(Suppl 1), 103–117. https://doi.org/10.1111/jnc.12317.

    CAS  Article  PubMed  Google Scholar 

  7. 7.

    Corben, L. A., Klopper, F., Stagnitti, M., Georgiou-Karistianis, N., Bradshaw, J. L., Rance, G., et al. (2017). Measuring inhibition and cognitive flexibility in Friedreich ataxia. The Cerebellum,16(4), 757–763. https://doi.org/10.1007/s12311-017-0848-7.

    CAS  Article  PubMed  Google Scholar 

  8. 8.

    de Nóbrega, E., Nieto, A., Barroso, J., & Montón, F. (2007). Differential impairment in semantic, phonemic, and action fluency performance in Friedreich’s ataxia: Possible evidence of prefrontal dysfunction. Journal of the International Neuropsychological Society: JINS,13(6), 944–952. https://doi.org/10.1017/S1355617707071202.

    Article  PubMed  Google Scholar 

  9. 9.

    Nieto, A., Correia, R., de Nóbrega, E., Montón, F., Hess, S., & Barroso, J. (2012). Cognition in Friedreich ataxia. Cerebellum (London, England),11(4), 834–844. https://doi.org/10.1007/s12311-012-0363-9.

    Article  Google Scholar 

  10. 10.

    Nieto, A., Correia, R., de Nóbrega, E., Monton, F. I., & Barroso, J. A. G. (2013). Cognition in late-onset Friedreich ataxia. The Cerebellum,12, 504–512. https://doi.org/10.1007/s12311-013-0457-z.

    CAS  Article  PubMed  Google Scholar 

  11. 11.

    Wollmann, T., Barroso, J., Monton, F., & Nieto, A. (2002). Neuropsychological test performance of patients with Friedreich’s ataxia. Journal of Clinical and Experimental Neuropsychology,24(5), 677–686. https://doi.org/10.1076/jcen.24.5.677.1014.

    Article  PubMed  Google Scholar 

  12. 12.

    Koeppen, A. H., & Mazurkiewicz, J. E. (2013). Friedreich ataxia: Neuropathology revised. Journal of Neuropathology and Experimental Neurology,72(2), 78–90. https://doi.org/10.1097/NEN.0b013e31827e5762.

    CAS  Article  PubMed  Google Scholar 

  13. 13.

    Selvadurai, L. P., Harding, I. H., Corben, L. A., & Georgiou-Karistianis, N. (2018). Cerebral abnormalities in Friedreich ataxia: A review. Neuroscience and Biobehavioral Reviews,84, 394–406. https://doi.org/10.1016/j.neubiorev.2017.08.006.

    Article  PubMed  Google Scholar 

  14. 14.

    Reetz, K., Dogan, I., Hilgers, R.-D., Giunti, P., Mariotti, C., Durr, A., et al. (2016). Progression characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS): A 2 year cohort study. The Lancet Neurology,15(13), 1346–1354. https://doi.org/10.1016/S1474-4422(16)30287-3.

    Article  PubMed  Google Scholar 

  15. 15.

    Epstein, E., Farmer, J. M., Tsou, A., Perlman, S., Subramony, S. H., Gomez, C. M., et al. (2008). Health related quality of life measures in Friedreich ataxia. Journal of the Neurological Sciences,272(1–2), 123–128. https://doi.org/10.1016/j.jns.2008.05.009.

    Article  PubMed  Google Scholar 

  16. 16.

    Tai, G., Corben, L. A., Yiu, E. M., & Delatycki, M. B. (2017). A longitudinal study of the SF-36 version 2 in Friedreich ataxia. Acta Neurologica Scandinavica,136(1), 41–46. https://doi.org/10.1111/ane.12693.

    CAS  Article  PubMed  Google Scholar 

  17. 17.

    Wilson, C. L., Fahey, M. C., Corben, L. A., Collins, V. R., Churchyard, A. J., Lamont, P. J., et al. (2007). Quality of life in Friedreich ataxia: What clinical, social and demographic factors are important? European Journal of Neurology,14(9), 1040–1047. https://doi.org/10.1111/j.1468-1331.2007.01881.x.

    CAS  Article  PubMed  Google Scholar 

  18. 18.

    Soh, S.-E., Morris, M. E., & McGinley, J. L. (2011). Determinants of health-related quality of life in Parkinson’s disease: A systematic review. Parkinsonism & Related Disorders,17(1), 1–9. https://doi.org/10.1016/j.parkreldis.2010.08.012.

    Article  Google Scholar 

  19. 19.

    Schmitz-Hübsch, T., du Montcel, S. T., Baliko, L., Berciano, J., Boesch, S., Depondt, C., et al. (2006). Scale for the assessment and rating of ataxia: Development of a new clinical scale. Neurology,66(11), 1717–1720. https://doi.org/10.1212/01.wnl.0000219042.60538.92.

    Article  PubMed  Google Scholar 

  20. 20.

    Ware, J. E. J. (2000). SF-36 health survey update. Spine,25(24), 3130.

    Article  Google Scholar 

  21. 21.

    Beck, A. T., Steer, R. A., & Brown, G. K. (2011). Manual. BDI-II. Inventario de Depresión de Beck-II. Madrid: Pearson.

    Google Scholar 

  22. 22.

    Sanz, J., Izquierdo, A., & García-Vera, M. (2013). Una revisión desde la perspectiva de la validez de contenido de los cuestionarios, escalas e inventarios autoaplicados más utilizados en España para evaluar la depresión clínica en adultos. Psicopatología Clínica, Legal y Forense,13, 139–175.

    Google Scholar 

  23. 23.

    Alonso, J., Prieto, L., & Antó, J. M. (1995). The Spanish version of the SF-36 Health Survey (the SF-36 health questionnaire): An instrument for measuring clinical results. Medicina Clinica,104(20), 771–776.

    CAS  PubMed  Google Scholar 

  24. 24.

    Benjamini, Y., & Hochberg, Y. (1995). Controlling the false discovery rate: A practical and powerful approach to multiple testing. Journal of the Royal Statistical Society: Series B (Methodological),57(1), 289–300.

    Google Scholar 

  25. 25.

    Groemping, U. (2006). Relative importance for linear regression in R: The Package relaimpo. Journal of Statistical Software,17(1), 1–27. https://doi.org/10.18637/jss.v017.i01.

    Article  Google Scholar 

  26. 26.

    Hernández, J. (2017). ULLRToolbox for R (Version 1.0). [Software]. Retrieved on November 10, 2018 from https://sites.google.com/site/ullrtoolbox/00-instalacion-windows.

  27. 27.

    Cohen, J. (1969). Statistical power analysis for the behavioral sciences. New York: Academic Press.

    Google Scholar 

  28. 28.

    Alonso, J., Regidor, E., Barrio, G., Prieto, L., Rodríguez, C., & de la Fuente, L. (1998). Population reference values of the Spanish version of the Health Questionnaire SF-36. Medicina Clinica,111(11), 410–416.

    CAS  PubMed  Google Scholar 

  29. 29.

    Schrag, A., Jahanshahi, M., & Quinn, N. (2000). What contributes to quality of life in patients with Parkinson’s disease? Journal of Neurology, Neurosurgery and Psychiatry,69(3), 308–312.

    CAS  Article  Google Scholar 

  30. 30.

    Tu, X. J., Hwang, W. J., Ma, H. I., Chang, L. H., & Hsu, S. P. (2017). Determinants of generic and specific health-related quality of life in patients with Parkinson’s disease. PLoS ONE,12(6), e0178896. https://doi.org/10.1371/journal.pone.0178896.

    CAS  Article  PubMed  PubMed Central  Google Scholar 

  31. 31.

    Carnero Contentti, E., Genco, N. D., Hryb, J. P., Caspi, M., Chiganer, E., Di Pace, J. L., … Perassolo, M. (2017). Impact of multiple sclerosis on quality of life: Comparison with systemic lupus erythematosus. Clinical Neurology and Neurosurgery, 163, 149–155. https://doi.org/10.1016/j.clineuro.2017.10.032.

  32. 32.

    Gullo, H. L., Fleming, J., Bennett, S., & Shum, D. H. K. (2019). Cognitive and physical fatigue are associated with distinct problems in daily functioning, role fulfilment, and quality of life in multiple sclerosis. Multiple Sclerosis and Related Disorders,31, 118–123. https://doi.org/10.1016/j.msard.2019.03.024.

    Article  PubMed  Google Scholar 

  33. 33.

    Dürr, A., Cossee, M., Agid, Y., Campuzano, V., Mignard, C., Penet, C., et al. (1996). Clinical and genetic abnormalities in patients with Friedreich’s ataxia. The New England Journal of Medicine,335(16), 1169–1175. https://doi.org/10.1056/NEJM199610173351601.

    Article  PubMed  Google Scholar 

  34. 34.

    Wedding, I. M., Kroken, M., Henriksen, S. P., Selmer, K. K., Fiskerstrand, T., Knappskog, P. M., et al. (2015). Friedreich ataxia in Norway—An epidemiological, molecular and clinical study. Orphanet Journal of Rare Diseases,10, 108. https://doi.org/10.1186/s13023-015-0328-4.

    Article  PubMed  PubMed Central  Google Scholar 

  35. 35.

    Lecocq, C., Charles, P., Azulay, J.-P., Meissner, W., Rai, M., N’Guyen, K., et al. (2016). Delayed-onset Friedreich’s ataxia revisited. Movement Disorders,31(1), 62–69. https://doi.org/10.1002/mds.26382.

    Article  PubMed  Google Scholar 

  36. 36.

    da Silva, C. B., Chevis, C. F., D’Abreu, A., Lopes-Cendes, I., & França, M. C. (2013). Fatigue is frequent and multifactorial in Friedreich’s ataxia. Parkinsonism & Related Disorders,19(8), 766–767. https://doi.org/10.1016/j.parkreldis.2013.04.007.

    Article  Google Scholar 

  37. 37.

    Costabile, T., Capretti, V., Abate, F., Liguori, A., Paciello, F., Pane, C., et al. (2018). Emotion recognition and psychological comorbidity in Friedreich’s ataxia. Cerebellum (London, England),17(3), 336–345. https://doi.org/10.1007/s12311-018-0918-5.

    Article  Google Scholar 

  38. 38.

    Nieto, A., Hernández-Torres, A., Pérez-Flores, J., & Montón, F. (2018). Depressive symptoms in Friedreich ataxia. International Journal of Clinical and Health Psychology : IJCHP,18(1), 18–26. https://doi.org/10.1016/j.ijchp.2017.11.004.

    Article  PubMed  Google Scholar 

  39. 39.

    Corben, L. A., Lynch, D., Pandolfo, M., Schulz, J. B., Delatycki, M. B., & Clinical Management Guidelines Writing Group. (2014). Consensus clinical management guidelines for Friedreich ataxia. Orphanet Journal of Rare Diseases,9, 184. https://doi.org/10.1186/s13023-014-0184-7.

    Article  PubMed  PubMed Central  Google Scholar 

  40. 40.

    Mateo, I., Llorca, J., Volpini, V., Corral, J., Berciano, J., & Combarros, O. (2004). Expanded GAA repeats and clinical variation in Friedreich’s ataxia. Acta Neurologica Scandinavica,109(1), 75–78. https://doi.org/10.1034/j.1600-0404.2003.00190.x.

    CAS  Article  PubMed  Google Scholar 

  41. 41.

    Menon, B., Nayar, R., Kumar, S., Cherkil, S., Venkatachalam, A., Surendran, K., et al. (2015). Parkinson’s disease, depression, and quality-of-life. Indian Journal of Psychological Medicine,37(2), 144–148. https://doi.org/10.4103/0253-7176.155611.

    Article  PubMed  PubMed Central  Google Scholar 

  42. 42.

    Pozzilli, C., Schweikert, B., Ecari, U., Oentrich, W., & Bugge, J. (2012). Quality of life and depression in multiple sclerosis patients: longitudinal results of the BetaPlus study. Journal of Neurology,259(11), 2319–2328. https://doi.org/10.1007/s00415-012-6492-8.

    Article  PubMed  Google Scholar 

  43. 43.

    Strawser, C., Schadt, K., Hauser, L., McCormick, A., Wells, M., Larkindale, J., et al. (2017). Pharmacological therapeutics in Friedreich ataxia: The present state. Expert Review of Neurotherapeutics,17(9), 895–907. https://doi.org/10.1080/14737175.2017.1356721.

    CAS  Article  PubMed  Google Scholar 

  44. 44.

    National Collaborating Centre for Mental Health (UK). (2010). Depression in adults with a chronic physical health problem: Treatment and management. Leicester (UK): British Psychological Society. Retrieved on November 13, 2018 from http://www.ncbi.nlm.nih.gov/books/NBK82916/.

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Acknowledgements

The authors thank Dr. Berciano (Hospital Marqués de Valdecillas, Santander) and Dr. Arpa (Hospital La Paz, Madrid) for providing access to patents and for their helpful assistance.

Funding

This work was supported by the Ministerio de Economía y Competitividad (Spain) [Grant Number PSI 2015-67514-P].

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Correspondence to Antonieta Nieto.

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Pérez-Flores, J., Hernández-Torres, A., Montón, F. et al. Health-related quality of life and depressive symptoms in Friedreich ataxia. Qual Life Res 29, 413–420 (2020). https://doi.org/10.1007/s11136-019-02311-9

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Keywords

  • Friedreich ataxia
  • Cerebellum
  • Quality of life
  • Depression
  • Neurological diseases