Understanding the Experience of Myotonic Dystrophy. Mixed Method Study
- 998 Downloads
Myotonic Dystrophy (DM) is a progressive multi-systemic disorder characterized by myotonia and muscle weakness where currently no effective treatment or cure to prevent or delay the disorder exists. This study used mixed methods to examine the experience of living with DM, in patients and their close relatives. Thirteen patients and eight next of kin responded completing Quality of Life and Psychological distress questionnaires in this cross-sectional study, and participating in a semi-structured interview. The findings indicate a higher level of anxiety and hopelessness in next of kin compared to patients, while patients were more depressed. Next of kin reported higher physical, but lower emotional quality of life than patients. Qualitative interviews confirmed the questionnaire findings. The findings from this study may be helpful in genetic counseling. Genetic counselors and geneticists should not only be aware of the burden of being a next of kin, but include discussions about opportunities to minimize the burden in families affected with DM. The findings may be of relevance in counseling for other types of neuromuscular disorders.
KeywordsPsychological distress Quality of life Myotonic dystrophy Next of kin Mixed method Genetic counseling
Thanks to statistician, Milada Cvancarova Småstuen for good and useful discussions and to Professor Michael Seltzer for correcting to the manuscript based in his own native English.
Conflict of Interest
Author Amy Østertun Geirdal, Author Inger Lund-Petersen and Author Arvid Heiberg declare that they have no conflict of interest.
Human Studies and Informed Consent
All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation, Regional Committees for Medical and Health Research Ethics (REC) in Norway and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all patients and next of kin for being included in the study.
No animal studies were carried out by the authors for this article.
- Antonini, G., Soscia, F., Giubilei, F., De Carolis, A., Gragnani, F., Morino, S., Ruberto, A., & Tatarelli, R. (2006). Health-related Quality of Life in myotonic dystrophy type 1 and its relationship with cognitive and emotional functioning. Journal of Rehabilitation Medicine, 38, 181–185.CrossRefGoogle Scholar
- APA. (1994). Diagnostic and statistical manual of mental disorders (4th ed.). Washington, DC: American Psychiatric Association.Google Scholar
- Cantril, H. (1965). The pattern of human concerns. New Brunswick: Rutgers University Press.Google Scholar
- Gandek, B., Ware, J. E., Aaronson, N. K., Alonso, J., Apolone, G., Bjorner, J., Brazier, J., Bullinger, M., Fukuhara, S., Leplège, A., & Sullivan, M. (1998). Tests of data quality, scaling assumptions, and reliability of the SF-36 in eleven countries: results from the IQOLA Project. International Quality of Life Assessment. Journal of Clinical Epidemiology, 51, 1149–1158.CrossRefGoogle Scholar
- Geirdal, A. Ø. (Ed.). (2007). Supportive groupwork with young arthritic mothers (Vol. 2). Whiting & Birch.Google Scholar
- Harper, P. (Ed.). (2009). Myotonic dystrophy (2nd edn). Oxford University Press.Google Scholar
- Heap, K. (2005). Gruppemetode for sosial-og helsearbeidere (Groupmethod for social-and health workers). Oslo: Gyldendal.Google Scholar
- Hoxmark, L. (2010). Men hvordan har DU det? (How are YOU doing?). Master thesis. MA-dissertation, Vestfold University College, Oslo.Google Scholar
- Kalkman, J. S., Schillings, M. L., van der Werf, S. P., Padberg, G. W., Zwarts, M. J., van Engelen, B. G. M., & Bleijenberg, G. (2005). Experienced fatigue in facioscapulohumeral dystrophy, myotonic dystrophy, and HMSN-I. Journal of Neurology, Neurosurgery and Psychiatry, 76, 1406–1409.CrossRefGoogle Scholar
- Kolstad, A. (1996). Quality indicators from an American survey interview panel. Paper presented at the Essex ’96 fourth international ISA Conference on Social Science Methodology, University of Essex. UK.Google Scholar
- Kvale, S., & Brinkmann, S. (2009). InterViews. Learning the craft of qualitative research interviewing (2nd ed.). Thousand Oaks: Sage.Google Scholar
- Patton, M. Q. (Ed.). (2002). Qualitative research and evaluation methods (3rd ed.). Thousand Oaks: Sage.Google Scholar
- Ware, J. E. J. (1996). Patient-based assessment: tools for monitoring and improving healthcare outcomes. Behavioral Healthcare Tomorrow, 5(88), 87.Google Scholar
Open AccessThis article is distributed under the terms of the Creative Commons Attribution 2.0 International License (https://doi.org/creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.