IDEAS home Printed from https://ideas.repec.org/a/spr/patien/v13y2020i4d10.1007_s40271-020-00418-7.html
   My bibliography  Save this article

Understanding Symptoms in RYR1-Related Myopathies: A Mixed-Methods Analysis Based on Participants’ Experience

Author

Listed:
  • Carlos Capella-Peris

    (National Institute of Nursing Research, National Institutes of Health)

  • Mary M. Cosgrove

    (National Institute of Nursing Research, National Institutes of Health)

  • Irene C. Chrismer

    (National Institute of Nursing Research, National Institutes of Health)

  • M. Sonia Razaqyar

    (National Institute of Nursing Research, National Institutes of Health)

  • Jeffrey S. Elliott

    (National Institute of Nursing Research, National Institutes of Health)

  • Anna Kuo

    (National Institute of Nursing Research, National Institutes of Health)

  • Magalie Emile-Backer

    (National Institute of Nursing Research, National Institutes of Health)

  • Katherine G. Meilleur

    (National Institute of Nursing Research, National Institutes of Health)

Abstract

Background In rare diseases such as ryanodine receptor 1-related myopathies (RYR1-RM), health-related quality of life (HRQoL) measures are critically important so clinicians and researchers can better understand what symptoms are most important to participants, with the ultimate goal of finding tangible solutions for them. Objectives The main objective of this study was to characterize symptoms in individuals with RYR1-RM to inform future research. A secondary objective of this study was to analyze positive and negative sentiments regarding symptoms and treatment effects post N-acetylcysteine (NAC) administration in individuals with RYR1-RM. Methods The study used a mixed-methods design applying methodological triangulation. Qualitative data were collected via semi-structured interviews at three visits to characterize symptoms in individuals with RYR1-RM and to analyze treatment effects. Qualitative data were then transformed into quantitative results to measure the frequency with which each symptom was mentioned by participants. Results A total of 12 symptoms were identified as areas of interest to participants with RYR1-RM, highlighting fatigue and weakness as key symptoms. Data transformation categorized more than 1000 citations, reporting a greater number of positive comments for postintervention interviews than for baseline and preintervention visits and that NAC group participants stated more positive comments regarding treatment effect than did the placebo group. Conclusions We present a comprehensive characterization of symptoms in RYR1-RM and how those symptoms influence HRQoL. Furthermore, the introduction of mixed methods may be a valuable way to better understand patient-centered data in rare diseases to support affected individuals in coping with their symptoms.

Suggested Citation

  • Carlos Capella-Peris & Mary M. Cosgrove & Irene C. Chrismer & M. Sonia Razaqyar & Jeffrey S. Elliott & Anna Kuo & Magalie Emile-Backer & Katherine G. Meilleur, 2020. "Understanding Symptoms in RYR1-Related Myopathies: A Mixed-Methods Analysis Based on Participants’ Experience," The Patient: Patient-Centered Outcomes Research, Springer;International Academy of Health Preference Research, vol. 13(4), pages 423-434, August.
    • Handle: RePEc:spr:patien:v:13:y:2020:i:4:d:10.1007_s40271-020-00418-7
    DOI: 10.1007/s40271-020-00418-7
    as

    Download full text from publisher

    File URL: http://link.springer.com/10.1007/s40271-020-00418-7
    File Function: Abstract
    Download Restriction: Access to the full text of the articles in this series is restricted.
    File URL: https://libkey.io/10.1007/s40271-020-00418-7?utm_source=ideas
    LibKey link: if access is restricted and if your library uses this service, LibKey will redirect you to where you can use your library subscription to access this item
    ---><---

    As the access to this document is restricted, you may want to search for a different version of it.

    References listed on IDEAS

    as
    1. Albrecht, Gary L. & Devlieger, Patrick J., 1999. "The disability paradox: high quality of life against all odds," Social Science & Medicine, Elsevier, vol. 48(8), pages 977-988, April.
    Full references (including those not matched with items on IDEAS)

    Most related items

    These are the items that most often cite the same works as this one and are cited by the same works as this one.
    1. Anita Hubley & Lara Russell & Anita Palepu & Stephen Hwang, 2014. "Subjective Quality of Life Among Individuals who are Homeless: A Review of Current Knowledge," Social Indicators Research: An International and Interdisciplinary Journal for Quality-of-Life Measurement, Springer, vol. 115(1), pages 509-524, January.
    2. S. Bentolhoda Mousavi & Dusica Lecic-Tosevski & Hassan Khalili & S. Zeinab Mousavi, 2020. "To be able, or disable, that is the question: A critical discussion on how language affects the stigma and self-determination in people with parability," International Journal of Social Psychiatry, , vol. 66(5), pages 424-430, August.
    3. Octave Jokung & Serge Macé, 2013. "Long-term health investment when people underestimate their adaptation to old age-related health problems," The European Journal of Health Economics, Springer;Deutsche Gesellschaft für Gesundheitsökonomie (DGGÖ), vol. 14(6), pages 1003-1013, December.
    4. Thébaut, Clémence, 2013. "Dealing with moral dilemma raised by adaptive preferences in health technology assessment: The example of growth hormones and bilateral cochlear implants," Social Science & Medicine, Elsevier, vol. 99(C), pages 102-109.
    5. Chen, Duan-Rung & Chang, Ly-Yun & Yang, Meng-Li, 2008. "Gender-specific responses to social determinants associated with self-perceived health in Taiwan: A multilevel approach," Social Science & Medicine, Elsevier, vol. 67(10), pages 1630-1640, November.
    6. Thomas Butt & Adnan Tufail & Gary Rubin, 2017. "Health State Utility Values for Age-Related Macular Degeneration: Review and Advice," Applied Health Economics and Health Policy, Springer, vol. 15(1), pages 23-32, February.
    7. Banister, David & Bowling, Ann, 2004. "Quality of life for the elderly: the transport dimension," Transport Policy, Elsevier, vol. 11(2), pages 105-115, April.
    8. Carole Bonnet & Sandrine Juin & Anne Laferrère, 2019. "Private Financing of Long‑Term Care: Income, Savings and Reverse Mortgages," Economie et Statistique / Economics and Statistics, Institut National de la Statistique et des Etudes Economiques (INSEE), issue 507-508, pages 5-24.
    9. Alison Dougall & Francisca Martinez Pereira & Gustavo Molina & Caroline Eschevins & Blánaid Daly & Denise Faulks, 2018. "Identifying common factors of functioning, participation and environment amongst adults requiring specialist oral health care using the International Classification of Functioning, disability and heal," PLOS ONE, Public Library of Science, vol. 13(7), pages 1-17, July.
    10. Marchesano, Katia & Musella, Marco, 2020. "Does volunteer work affect life satisfaction of participants with chronic functional limitations? An empirical investigation," Socio-Economic Planning Sciences, Elsevier, vol. 69(C).
    11. Schünemann, Johannes & Strulik, Holger & Trimborn, Timo, 2017. "Going from bad to worse: Adaptation to poor health health spending, longevity, and the value of life," Journal of Economic Behavior & Organization, Elsevier, vol. 140(C), pages 130-146.
    12. Demianova, Anna & Lukiyanova, Anna, 2016. "The impact of disability status on labor supply in Russia," Applied Econometrics, Russian Presidential Academy of National Economy and Public Administration (RANEPA), vol. 44, pages 50-74.
    13. Ann Bowling & Zahava Gabriel, 2004. "An Integrational Model of Quality of Life in Older Age. Results from the ESRC/MRC HSRC Quality of Life Survey in Britain," Social Indicators Research: An International and Interdisciplinary Journal for Quality-of-Life Measurement, Springer, vol. 69(1), pages 1-36, October.
    14. Macé, Serge & Le Lec, Fabrice, 2011. "On fatalistic long-term health behavior," Journal of Economic Psychology, Elsevier, vol. 32(3), pages 434-439, June.
    15. Tracey McDonald & Frances Russell, 2019. "Long‐Term Care Quality‐of‐Life Scale utility in community home care," Nursing & Health Sciences, John Wiley & Sons, vol. 21(4), pages 494-500, December.
    16. Leena Eklund Karlsson & Kristine Crondahl & Fredrik Sunnemark & Åsa Andersson, 2013. "The Meaning of Health, Well-Being, and Quality of Life Perceived by Roma People in West Sweden," Societies, MDPI, vol. 3(2), pages 1-18, June.
    17. Marta Barazzetta & Simon Appleton & Trudy Owens, 2020. "Hedonic Adaptation to Treatment: Evidence from a Medical Intervention," Journal of Development Studies, Taylor & Francis Journals, vol. 56(3), pages 613-629, March.
    18. Yen, Dorothy & Cohen, Geraldine & Wei, Liyuan & Asaad, Yousra, 2022. "Towards a framework of healthy aging practices," Journal of Business Research, Elsevier, vol. 142(C), pages 176-187.
    19. Patrick Devlieger & Jori De Coster, 2017. "On Footwear and Disability: A Dance of Animacy?," Societies, MDPI, vol. 7(2), pages 1-11, June.
    20. Robert Scholte & Gerard J. van den Berg & Maarten Lindeboom & Dorly J.H. Deeg, 2017. "Does the Size of the Effect of Adverse Events at High Ages on Daily‐Life Physical Functioning Depend on the Economic Conditions Around Birth?," Health Economics, John Wiley & Sons, Ltd., vol. 26(1), pages 86-103, January.

    More about this item

    Statistics

    Access and download statistics

    Corrections

    All material on this site has been provided by the respective publishers and authors. You can help correct errors and omissions. When requesting a correction, please mention this item's handle: RePEc:spr:patien:v:13:y:2020:i:4:d:10.1007_s40271-020-00418-7. See general information about how to correct material in RePEc.

    If you have authored this item and are not yet registered with RePEc, we encourage you to do it here. This allows to link your profile to this item. It also allows you to accept potential citations to this item that we are uncertain about.

    If CitEc recognized a bibliographic reference but did not link an item in RePEc to it, you can help with this form .

    If you know of missing items citing this one, you can help us creating those links by adding the relevant references in the same way as above, for each refering item. If you are a registered author of this item, you may also want to check the "citations" tab in your RePEc Author Service profile, as there may be some citations waiting for confirmation.

    For technical questions regarding this item, or to correct its authors, title, abstract, bibliographic or download information, contact: Sonal Shukla or Springer Nature Abstracting and Indexing (email available below). General contact details of provider: http://www.springer.com .

    Please note that corrections may take a couple of weeks to filter through the various RePEc services.

    IDEAS is a RePEc service. RePEc uses bibliographic data supplied by the respective publishers.