CHAPTER 3 58 also asked parents if the researcher could contact them. After two weeks, they were contacted by the researcher, who provided additional information and asked parents if they and their child were willing and able to participate. The interview was scheduled at a location chosen by the child and his/her parents: at home or the Radboudumc. Four children declined participation due to recent participation in other research, disagreement between parents, school business and/or potential burdens on the family. Nine children and their parents provided informed consent and participated in the study; demographics are given in Table 1. Since mitochondrial disorders are rare and we chose to recruit from only one centre, we did not expect a larger sample size to be realistic. Eight children were native Dutch speakers and one was a native German speaker. Participants varied in the type of genetic defect (Table 2), age, gender and functional capacities (see Table 1). For privacy reasons, the mutations listed in Table 2 and not connected to the data in Table 1 to prevent potential recognition. Six children have a mutation in nDNA, three children in mtDNA. The functional capacities were extracted from patient files. In two cases, more clinically relevant priorities hindered scheduling of the fatigue assessment during the clinical visit, and thus it was not available in the chart. To provide insight into the functional capacities of the children, we used the following three profiles, based on previous research (Lindenschot et al. 2018): - Global low functioning: children with an extremely low or low cognitive developmental level and limited in their motor functioning, both of which lead to non-functional outdoors ambulation and non-functional communication; - Low cognitive functioning with moderate-to-normal ambulation: children with an extremely low or low cognitive developmental level, some limitations in motor functioning but capable of functional ambulation. Speech abilities in this profile differ among the children; - Global moderate functioning: children with an average cognitive developmental level, some limitations in motor functioning but capable of functional ambulation. Speech abilities are sufficient to make themselves understood.
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