Executive function and quality of life in individuals with Marfan syndrome
Marfan syndrome (MFS) is a connective tissue disorder that affects skeletal, ocular, pulmonary, cardiovascular, and central nervous systems. Psychological and physiologic symptoms may lead to diminished quality of life (QoL) in individuals with MFS compared with healthy individuals. Currently, there is little evidence regarding the impact of MFS on executive function and QoL. This study examined perceptions of executive function and QoL among persons with MFS.
A total of 318 participants with MFS completed surveys assessing perceptions of executive function abilities and QoL. Responses to executive function questions were grouped using principle component analysis. Responses to QoL questions were separated into overall QoL, questions dealing with satisfaction of QoL, and importance placed on aspect of QoL.
Principle component analysis revealed that executive function difficulties, particularly mental fatigue, associated with MFS symptoms affect QoL satisfaction and total QoL. Interestingly, medication status did not significantly impact QoL, over and above executive function difficulties.
The findings of the current study suggest that individuals with MFS may experience specific executive function difficulties which impact QoL. These findings also have implications for clinicians who work with individuals with MFS.
KeywordsQuality of life Marfan syndrome Executive function
The authors would like to thank The Marfan Foundation and Genetic Aortic Disease Association (GADA) for their assistance with patient recruitment for this study.
This research study was not funded by any agency or grant. The authors are employed by the affiliated universities. The lead author presented a portion of this research at the Arizona Speech-Language Hearing Association Convention, for which she received financial support from Midwestern University. No author received honoraria for speaking at a symposium. The Marfan Foundation and Genetic Aortic Disease Association (GADA) assisted with patient recruitment for this study. Two authors, Ileana Ratiu and Melissa Flint, were asked to serve on an expert panel for The Marfan Foundation following this study. These authors do not receive payment for this service. Mitra Esfandiarei has received two grants from The Marfan Foundation to support other translational research projects in the mouse model of MFS. The authors have no other financial or non-financial relationships to disclose.
Compliance with ethical standards
All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.
Informed consent was obtained from all individual participants included in the study. The experimental procedures were approved by the Midwestern University Human Subjects Institutional Review Board. No personally identifying information was link to participant responses on the survey.
- 3.Lannoo, E., De Paepe, A., Leroy, B., & Thiery, E. (1996). Neuropsychological aspects of Marfan syndrome. Clinical Genetics, 49(2), 65–69. https://doi.org/10.1111/j.1399-0004.1996.tb04329.x.CrossRefPubMedGoogle Scholar
- 6.Marfan Foundation. (2014). Marfan & related disorders. Retrieved from https://www.marfan.org/about.
- 9.Velvin, G., Bathen, T., Rand-Hendriksen, S., & Geirdal, A. (2016). Satisfaction with life in adults with Marfan syndrome (MFS): Associations with health-related consequences of MFS, pain, fatigue, and demographic factors. Quality of Life Research. https://doi.org/10.1007/s11136-015-1214-1.PubMedGoogle Scholar
- 10.Rand-Hendriksen, S., Johansen, H., Semb, S. O., Geiran, O., Stanghelle, J. K., & Finset, A. (2010). Health-related quality of life in Marfan syndrome: A cross-sectional study of Short Form 36 in 84 adults with a verified diagnosis. Genetics in Medicine, 12(8), 517–524. https://doi.org/10.1097/GIM.0b013e3181ea4c1c.CrossRefPubMedGoogle Scholar
- 11.Mueller, G. C., Steiner, K., Wild, J. M., Stark, V., Kozlik-Feldmann, R., & Mir, T. S. (2016). Health-related quality of life is unimpaired in children and adolescents with Marfan syndrome despite its distinctive phenotype. Acta Paediatrica, 105(3), 311–316. https://doi.org/10.1111/apa.13264.CrossRefPubMedGoogle Scholar
- 12.Goldfinger, J. Z., Preiss, L. R., Devereux, R. B., Roman, M. J., Hendershot, T. P., Kroner, B. L., & Eagle, K. A. (2017). Marfan syndrome and quality of life in the GenTAC registry. Journal of the American College of Cardiology, 69(23), 2821–2830. https://doi.org/10.1016/j.jacc.2017.04.026.CrossRefPubMedPubMedCentralGoogle Scholar
- 17.Berryman, C., Stanton, T. R., Bowering, K. J., Tabor, A., McFarlane, A., & Moseley, G. L. (2014). Do people with chronic pain have impaired executive function? A meta-analytical review. Clinical Psychology Review, 34(7), 563–579. https://doi.org/10.1016/j.cpr.2014.08.003.CrossRefPubMedGoogle Scholar
- 19.Capuron, L., Welberg, L., Heim, C., Wagner, D., Solomon, L., Papanicolaou, D. A., et al. (2005). Cognitive dysfunction relates to subjective report of mental fatigue in patients with chronic fatigue syndrome. Neuropsychopharmacology, 31(8), 1777–1784. https://doi.org/10.1038/sj.npp.1301005.CrossRefGoogle Scholar
- 21.Joyce, E., Blumenthal, S., & Wessely, S. (1996). Memory, attention, and executive function in chronic fatigue syndrome. Psychiatry: Interpersonal and Biological Processes, 60, 495–503.Google Scholar
- 22.Möller, M. C., Nygren de Boussard, C., Oldenburg, C., & Bartfai, A. (2014). An investigation of attention, executive, and psychomotor aspects of cognitive fatigability. Journal of Clinical and Experimental Neuropsychology, 36(7), 1–14. https://doi.org/10.1080/13803395.2014.933779.CrossRefGoogle Scholar
- 23.Gao, L., Mao, Q., Wen, D., Zhang, L., Zhou, X., & Hui, R. (2011). The effect of beta-blocker therapy on progressive aortic dilatation in children and adolescents with Marfan’s syndrome: A meta-analysis. Acta Paediatrica, 100(9), 101–105. https://doi.org/10.1111/j.1651-2227.2011.02293.x.CrossRefGoogle Scholar
- 24.Buchanan, T., Heffernan, T. M., Parrott, A. C., Ling, J., Rodgers, J., & Scholey, A. B. (2010). A short self-report measure of problems with executive function suitable for administration via the Internet. Behavior Research Methods, 42(3), 709–714. https://doi.org/10.3758/BRM.42.3.709.CrossRefPubMedGoogle Scholar
- 26.Stevens, J. (1992). Applied multivariate statistics for the social sciences (2nd ed.). Hillsdale, NJ: Lawrence Erlbaum Associates.Google Scholar