MEANINGFUL ACTIVITIES OF CHILDREN WITH MITOCHONDRIAL DISORDER 55 3 Introduction Performing everyday activities is a basic human need (Law et al. 2005), a key element for wellbeing and an important determinant of health for children of all ages (Asbjornslett and Hemmingsson 2008; Bendixen and Kreider 2011; Law et al. 2005). Performing activities is the most important part of participation (Eriksson and Granlund 2004). Although the type of activities depends on age, a logical consequence of cognitive development (Piaget 1964), and psychosocial development (Erikson 1993), concepts of participation do not appear age-related (Eriksson and Granlund 2004). Unfortunately, engagement in age-related activities is not self- evident for children with a disability, and this fact can negatively influence participation (Heah et al. 2007; Shields et al. 2014). Children with mitochondrial disorders, rare diseases that affect cellular energy metabolism, experience limitations in their physical and cognitive capacities; these deficiencies range from very small to extremely high (Koene et al. 2013). Mitochondrial disorders are one of the most common inherited metabolism disorders and have an estimated prevalence of 23 in 100,000 (Gorman et al. 2015). These inherited metabolism errors can be caused by mutation of genes encoded by mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) ((Koopman et al. 2012). The number of identified genes associated with a mitochondrial disorder continuously increases. Mutations in more than 350 genes of both mitochondrial and nuclear origin have already been identified (Rahman and Rahman 2018). This genetic heterogeneity is also reflected in the wide range of symptoms and impairments associated with mitochondrial disorders, from motor to cognitive impairments (Dassler and Allen 2014; Kisler et al. 2010; Koene and Smeitink 2009; Koene et al. 2013). The most prevalent symptoms in children with mitochondrial disorders are developmental delay, intellectual problems, speech and language impediments and physical disabilities, including muscle weakness, coordination problems and/or balance problems (Koene et al. 2013). Parents also mention that in addition to a lack of energy, developmental and physical disabilities greatly impact daily functioning (Koene et al. 2013). Therefore, children with mitochondrial disorders are vulnerable in their participation and performance of everyday activities. The impact of the disabilities on everyday activities is illustrated by a study by Martens et al. (2014), who found that children with mitochondrial disorders are less physically active and engaged in vigorous activities compared to healthy peers. Furthermore, the activity level of children with mitochondrial disorders as measured with an accelerometer varies from nearly normal to severely impaired (de Vries et al. 2019). The most burdensome complaints on the levels of activity and participation, reported by children and their parents, are learning to write and
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