Cognitive functioning and mental health in mitochondrial disease: A systematic scoping review.

Affiliation

Klein IL(1), van de Loo KFE(2), Smeitink JAM(3), Janssen MCH(4), Kessels RPC(5), van Karnebeek CD(6), van der Veer E(7), Custers JAE(1), Verhaak CM(1).
Author information:
(1)Radboud University Medical Center, Amalia Children's Hospital, Radboud Institute for Health Sciences, Radboud Center for Mitochondrial Medicine, Department of Medical Psychology, Geert Grooteplein Zuid 10, PO Box 9101, 6500 HB, Nijmegen, the Netherlands.
(2)Radboud University Medical Center, Amalia Children's Hospital, Radboud Institute for Health Sciences, Radboud Center for Mitochondrial Medicine, Department of Medical Psychology, Geert Grooteplein Zuid 10, PO Box 9101, 6500 HB, Nijmegen, the Netherlands. Electronic address: [Email]
(3)Radboud University Medical Center, Amalia Children's Hospital, Radboud Institute for Molecular Life Sciences, Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Geert Grooteplein Zuid 10, PO Box 9101, 6500 HB, Nijmegen, the Netherlands; Khondrion BV, Philips van Leydenlaan 15, PO Box 9101, 6500 HB, Nijmegen, the Netherlands.
(4)Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Radboud Center for Mitochondrial Medicine, Department of Internal Medicine, Geert Grooteplein Zuid 10, PO Box 9101, 6500 HB, Nijmegen, the Netherlands.
(5)Radboud University Medical Center, Department of Medical Psychology, Geert Grooteplein Zuid 10, PO Box 9101, 6500 HB, Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Thomas van Aquinostraat 4, Postbus 9104, 6500 HE, Nijmegen, the Netherlands; Vincent van Gogh Institute for Psychiatry, d'n Herk 90, 5803 DN, Venray, the Netherlands.
(6)Radboud University Medical Center, Amalia Children's Hospital, Radboud Institute for Molecular Life Sciences, Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Geert Grooteplein Zuid 10, PO Box 9101, 6500 HB, Nijmegen, the Netherlands.
(7)International Mito Patients Association, 2861 AD, Bergambacht, the Netherlands.

Abstract

Mitochondrial diseases (MDs) are rare, heterogeneous, hereditary and progressive in nature. In addition to the serious somatic symptoms, patients with MD also experience problems regarding their cognitive functioning and mental health. We provide an overview of all published studies reporting on any aspect of cognitive functioning and/or mental health in patients with MD and their relatives. A total of 58 research articles and 45 case studies were included and critically reviewed. Cognitive impairments in multiple domains were reported. Mental disorders were frequently reported, especially depression and anxiety. Furthermore, most studies showed impairments in self-reported psychological functioning and high prevalence of mental health problems in (matrilineal) relatives. The included studies showed heterogeneity regarding patient samples, measurement instruments and reference groups, making comparisons cautious. Results highlight a high prevalence of cognitive impairments and mental disorders in patients with MD. Recommendations for further research as well as tailored patientcare with standardized follow-up are provided. Key gaps in the literature are identified, of which studies on natural history are of highest importance.