DAILY ACTIVITIES OF CHILDREN WITH MITOCHONDRIAL DISORDER 37 2 Introduction Performing everyday activities is viewed as an important factor for the wellbeing of an individual and is an important determinant of health [1-3]. If children are unable to be engaged in everyday activities, they do not have the opportunity to explore their environment and are less able to grow up as unique individuals [4]. Although children with disabilities might enjoy the same activities and have similar desires as their healthy developing peers [5,6], they can experience limitations in activities, leading to restrictions in their participation in daily life. Mitochondrial disorders, with an estimated prevalence of 23 in 100,000, are one of the most common inherited errors of metabolism [7]. Mitochondrial disorders can be caused by mutation of genes encoded by either nuclear DNA (nDNA) or mitochondrial DNA (mtDNA) [8]. Mutations have been identified in more than 230 different genes [8,9] and the number of identified genes associated with mitochondrial disorder is continuously increasing [10]. This genetic heterogeneity is also reflected in the clinical phenotypes associated with mitochondrial disorder, with a large range of symptoms and impairments [11-13]. It was previously found that children (when we talk about children in this article, we mean children and adolescents in the age of 0–18 years) withmitochondrial disorders are less physically active and engage less in vigorous activities compared to healthy peers [14]. Children with a mitochondrial disorder experience these limitations in performing everyday activities due to motor and cognitive impairments including muscle weakness, balance problems, concentration problems and intellectual disability [13]. These impairments have consequences for daily living activities and participation. The extent of perceived limitations in activities and participation of children with mitochondrial disorders varies from none to extremely high [13]. While some children remain in a mainstream school and achieve normal milestones, others barely interact with their environment [15]. Although literature states that children with mitochondrial disorder experience limitations in activities, a clear overview of their everyday activities is lacking. It is commonly expected that the nature of activities differs based on the global functioning of the child. Knowledge of these possible differences and similarities is important to choose or develop assessments for this population, to evaluate the outcome of treatment on participation and to be able to tailor the assessments and treatment to the child’s and parent’s specific wishes. As healthcare professionals make clinical decisions based on information about the child’s capacities and activities, we expect that information concerning the activities of the child are reported in patient records. Therefore, this pilot study is aimed at exploring which everyday activities of children with genetically confirmed mitochondrial disorders
RkJQdWJsaXNoZXIy MjY0ODMw