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Fatigue, depression and quality of life impairments are highly prevalent in patients living with mitochondrial diseases. However, a recent study did not find these mental health challenges could be simply explained by disease severity in general. The study’s results suggested a constant interplay between disease related factors and mental health.

Dr Kim van de Loo presented her thesis on ‘Cognitive functioning and mental health in children and adults with a Mitochondrial Disease’ at the Radboud Medical University in Nijmegen, The Netherlands in November 2022. This extensive study into the mental health of mitochondrial disease patients is hoped to form the basis of many follow-up studies. In academic circles the study was praised for its thorough scoping and literature review, and the new insights provided.

The thesis aimed to obtain more insight into the cognitive functioning and mental health of patients with mitochondrial diseases, and into the relation of cognitive functioning and mental health with disease specific factors.

The study also resulted in a clinical intervention treating mitochondrial disease patients between the age of 8 -18 years with respect to their mental health. The PowerME study was published in 2021 and can be found here.

The study was initiated by Dr Chris Verhaak, Associate Professor, researcher and clinical psychologist, in close cooperation with IMP. Together, we successfully applied for a grant with the Princes Beatrix Muscle Fund. During the study IMP actively provided input and feedback, especially on the design of the study, the recruitment of patients, and the set-up of the PowerME intervention.

This thesis is one of the first studies structurally addressing the cognitive and mental health aspects of mitochondrial diseases. It stressed the importance of systematically integrating these aspects into both daily clinical practice and research. This is help us to disentangle the complex interplay between mitochondrial functioning related parameters, impact of the mitochondrial disease on daily life, and cognitive and mental health functioning.

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