Abstract

Background: Mitochondrial disorders (MD) are a group of clinically heterogeneous genetic disorders resulting from dysfunction of the mitochondrial respiratory chain. Cognitive impairment is a common feature in adults with MD and psychiatric symptoms are associated with MD in up to 70% of the adult population. The aim of this study is to describe the psychiatric profile in children and adolescents with MD by focusing on the description of psychiatric symptoms.Methods: A cohort of 12 children and adolescents was prospectively recruited between February 2019 and February 2020 in the Reference Center for Mitochondrial Disorders of Angers (France). Participants and their parents completed an anamnestic form to provide socio-demographic data and completed the Global Assessment of Functioning scale, the Brief Psychiatric Rating Scale, the Child Depression Inventory, the Revised Children's Manifest Anxiety Scale, and the Conner's Rating Scale to evaluate the inattention/hyperactivity symptoms as well as the Quality of Life scale.Results: Four children (33.3%) were diagnosed with depressive symptoms. With regarding to anxiety, 6 children (50%) reported anxiety issues during the psychiatric interview and 3 children (25%) were suffering from anxiety according to the RCMAS scale. Compared to other children with chronic illnesses, the individuals in our cohort reported a lower overall quality of life score and lower scores in physical and social subscales.Conclusion: Our study shows that MD can lead to psychiatric disorders in children and adolescents, in particular anxiety and depression, as well as poor quality of life. This highlights the need for regular psychiatric assessments in individuals with developing brains, such as children and adolescents. We do not, however, have data regarding the neuropsychological profile of this population.

Highlights

  • Mitochondrial disorders (MD) are a group of clinically heterogeneous genetic disorders resulting from dysfunction of the mitochondrial respiratory chain [1]

  • Cognitive impairment is a common feature in adults and children presenting with MD, such as MELAS (Mitochondrial Encephalopathy Lactic Acidosis, and Stroke-like episodes) syndrome [8] and psychiatric symptoms are associated with MD in up to 70% of the adult population [9, 10]

  • Our results confirm data found in the literature on psychiatric features in children affected with MD [12], in particular anxiety and depression

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Summary

Introduction

Mitochondrial disorders (MD) are a group of clinically heterogeneous genetic disorders resulting from dysfunction of the mitochondrial respiratory chain [1]. The main central nervous system (CNS) symptoms of MD include epilepsy, hearing loss, visual impairment, intellectual disability, fluctuating encephalopathy, stroke-like episodes, ataxia, and spasticity. Brain dysfunction in MD can result in neuropsychological or psychiatric disturbances including mentation, mood, and behavioral disorders, but few studies deal with this aspect of MD [6, 7]. Cognitive impairment is a common feature in adults and children presenting with MD, such as MELAS (Mitochondrial Encephalopathy Lactic Acidosis, and Stroke-like episodes) syndrome [8] and psychiatric symptoms are associated with MD in up to 70% of the adult population [9, 10]. Cognitive impairment is a common feature in adults with MD and psychiatric symptoms are associated with MD in up to 70% of the adult population. The aim of this study is to describe the psychiatric profile in children and adolescents with MD by focusing on the description of psychiatric symptoms

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