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.
Similar content being viewed by others
References
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.
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.
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.
Bürk, K. (2017). Friedreich Ataxia: Current status and future prospects. Cerebellum & Ataxias,4, 4. https://doi.org/10.1186/s40673-017-0062-x.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Ware, J. E. J. (2000). SF-36 health survey update. Spine,25(24), 3130.
Beck, A. T., Steer, R. A., & Brown, G. K. (2011). Manual. BDI-II. Inventario de Depresión de Beck-II. Madrid: Pearson.
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.
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.
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.
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.
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.
Cohen, J. (1969). Statistical power analysis for the behavioral sciences. New York: Academic Press.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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/.
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].
Author information
Authors and Affiliations
Corresponding author
Additional information
Publisher's Note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Rights and permissions
About this article
Cite this article
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
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s11136-019-02311-9