Mental health and health related quality of life in mitochondrial POLG disease

Omar Hikmat; Bente Johanne Vederhus; Merete Roineland Benestad; Ida Malen E Engeset; Claus Klingenberg; Magnhild Rasmussen; Chantal Me Tallaksen; Eylert Brodtkorb; Irene Bircow Elgen; Laurence A Bindoff

doi:10.1016/j.mito.2020.09.005

Mental health and health related quality of life in mitochondrial POLG disease

Mitochondrion. 2020 Nov:55:95-99. doi: 10.1016/j.mito.2020.09.005. Epub 2020 Sep 23.

Affiliations

¹ Department of Pediatrics and Adolescent Medicine, Haukeland University Hospital, 5021 Bergen, Norway; Department of Clinical Medicine (K1), University of Bergen, Norway. Electronic address: omar.hikmat@uib.no.
² Department of Pediatrics and Adolescent Medicine, Haukeland University Hospital, 5021 Bergen, Norway; Western Norway University of Applied Sciences, Bergen, Norway.
³ Department of Pediatrics and Adolescent Medicine, Haukeland University Hospital, 5021 Bergen, Norway; Department of Global Public Health and Primary Care, University of Bergen, Bergen, Norway.
⁴ Department of Clinical Medicine (K1), University of Bergen, Norway.
⁵ Department of Paediatric and Adolescent Medicine, University Hospital of North Norway, Tromso, Norway; Paediatric Research Group, Department of Clinical Medicine, UiT- The Arctic University of Norway, Tromso, Norway.
⁶ Women and Children's Division, Department of Clinical Neurosciences for Children, Oslo University Hospital, Oslo, Norway and Unit for Congenital and Hereditary Neuromuscular Disorders, Department of Neurology, Oslo University Hospital, Oslo, Norway.
⁷ Department of Neurology, Oslo University Hospital, Oslo, Norway; Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway.
⁸ Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway; Department of Neurology and Clinical Neurophysiology, St. Olav's University Hospital, Trondheim, Norway.
⁹ Department of Clinical Medicine (K1), University of Bergen, Norway; Department of Child and Adolescent Psychiatry, Haukeland University Hospital, Bergen, Norway.
¹⁰ Department of Clinical Medicine (K1), University of Bergen, Norway; Department of Neurology, Haukeland University Hospital, 5021 Bergen, Norway.

PMID: 32976988
DOI: 10.1016/j.mito.2020.09.005

Abstract

We aimed to assess the impact of POLG disease on mental health and quality of life in 15 patients using the Symptom Checklist-90-R (SCL-90-R) and Short-Form 36 Health Survey (RAND-36). We found increased scores in all nine subscales of SCL-90-R, particularly phobic anxiety, depression and somatization. Further, patients reported considerably lower scores in all RAND-36 domains. This study revealed a global decline in mental health and poor quality of life in patients with POLG disease and highlights the need for increased awareness and systematic assessment in order to improve their quality of life and mental health.

Keywords: Epilepsy; Mental health; Mitochondrial disease; POLG; Psychological distress; Quality of life.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adult
Aged
Aged, 80 and over
DNA Polymerase gamma / genetics*
Female
Humans
Male
Mental Health
Middle Aged
Mitochondrial Diseases / genetics
Mitochondrial Diseases / psychology*
Point Mutation*
Quality of Life / psychology*
Sequence Analysis, DNA
Young Adult

Substances

DNA Polymerase gamma
POLG protein, human