GENERAL INTRODUCTION 17 1 Roughly, two main clinical phenotypes can be observed: mitochondrial encephalopathy (with mainly central nervous system involvement) and mitochondrial myopathy (mainly muscle involvement). However, in reality, most children have a combination of both phenotypes, either or not in combination with involvement of other affected organs or tissues. The most commonly affected organs include: brain, eye, heart, liver, gastrointestinal system, nerves and skeletal muscle (Figure 1)16, which lead to a variety of symptoms. While the main focus of research has been the identification of causes, the examination of phenotypes and symptom management, since the last decade the focus has broadened to the level of activity and participation and the patient’s perspectives. This showed that the most burdensome symptoms for children vary, but overall children experience fatigue and lack of energy, speech and language problems, muscle weakness, and developmental delay as the most burdensome symptoms15. Unfortunately, a cure is not yet available for this generally progressive and in some cases devastating disease1, 2. Therefore, medical treatment focuses on disease management, which consists of relieving symptoms and monitoring organ function. Thus, allied health interventions are focused on maintaining and/or improving daily functioning. Accordingly, taking the large variety in the manifestation of the disease and the progressiveness into account in combination with the development of the child, treatment should be tailor-made and frequently adapted to the course of the disease. Impact of children’s disabilities on their daily activities Performing meaningful everyday activities is a basic human need5, and the most important part of participation17. Moreover, it is a human right to be able and participate in meaningful activities and use someone’s personal abilities in its full potential in the relevant context, which is called ‘occupational justice’ 18-24. However, engagement in age-related activities is not self-evident for children with a disability, as disabilities can negatively influence participation25, 26. Literature reviews provide knowledge about how children with disabilities experience the meaning of activities27, 28 but are mainly focused on leisure. This is remarkable, as disabilities will impact daily activities in all occupational performance areas, including personal maintenance and productivity, and leisure25, 26, 29. This impact on all areas of daily life is confirmed by Koene et al.15, who reported that children with a mitochondrial disorder experience difficulties in learning to write or calculate, engaging in activities at school, in the neighbourhood and community, participating in employment preparedness programs, walking and using the toilet, as the most burdensome in participating in everyday life. The extent of perceived limitations in activities and participation for children with mitochondrial disabilities varies from
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