Psychological aspects of mitochondrial diseases


Although psychological research in mitochondrial diseases is still in an explorative phase there are strong indications that psychological factors play a crucial  role in the development of disease and the outcome of treatment. Fatigue or  lack of energy are indicated, by patients as well as their proxies, to be the most burdensome aspects of the disease. From other fields in behavioural medicine we know that psychological factors could importantly determine fatigue and perceived lack of energy. In addition, from these fields of research it is known that psychological factors could play a role as mediators in the relationship between biochemical parameters and disease outcome in terms of quality of life. This is  also  apparent in mitochondrial diseases were behaviour  plays a role in terms of levels of activity and emotions in terms of fear for complaints. Also, the gap between the biochemistry of mitochondrial disease on the one hand and perceived burden on the other, points to the importance of the role psychological factors. Via  a psychological research perspective we aim to systematically investigate psychological correlates in outcomes of mitochondrial diseases. In addition, we will investigate the mediating role of psychological factors in specific, well defined patient groups.

The characteristics of mitochondrial diseases in terms of uncertainty about its course, possible lethal character, lack of treatment possibilities, the inherited character and frequently long diagnostic procedure, could importantly affect psychosocial adjustment to the disease. Our research systematically investigates psychological aspects of these burdensome aspects of mitochondrial diseases to gain more knowledge about supportive interventions.

In our research we closely collaborate with the rehabilitation and other clinical research perspectives within RCMM.

Recent publications

  1. Quality of life, fatigue and mental health in patients with the m.3243A > G mutation and its correlates with genetic characteristics and disease manifestation. Verhaak C, de Laat P, Koene S, Tibosch M, Rodenburg R, de Groot I, Knoop H, Janssen M, Smeitink J. Orphanet J Rare Dis. 2016 Mar 18;11(1):25. doi: 10.1186/s13023-016-0403-5. PubMed PMID: 26988355; PubMed Central PMCID: PMC4797235.

  2. High prevalence of complementary and alternative medicine use in patients with genetically proven mitochondrial disorders. Franik S, Huidekoper HH, Visser G, de Vries M, de Boer L, Hermans-Peters M, Rodenburg R, Verhaak C, Vlieger AM, Smeitink JA, Janssen MC, Wortmann SB. J Inherit Metab Dis. 2014 Oct 11. [Epub ahead of print].

  3. Towards the harmonization of outcome measures in children with mitochondrial disorders. Koene S, Jansen M, Verhaak CM, De Vrueh RL, De Groot IJ, Smeitink JA. Dev Med Child Neurol. 2013 Aug;55(8):698-706.

  4. Major depression in adolescent children consecutively diagnosed with mitochondrial disorder. Koene S, Kozicz TL, Rodenburg RJ, Verhaak CM, de Vries MC, Wortmann S, van de Heuvel L, Smeitink JA, Morava E. J Affect Disord. 2009 Apr;114(1-3):327-32.