Research Article
Everyday Activities for Children with Mitochondrial Disorder: A Retrospective Chart Review
Table 1
Clinical and genetic characteristics of the children.
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: M = male, F = female; B: 1 = extremely low, 2 = low, 3 = average, 4 = good; C: 1 = spasticity, 2 = ataxia, 3 = extremely delayed, 4 = delayed, 5 = normal development; D: 1 = nonambulation, 2 = nonfunctional ambulation, 3 = household ambulation, 4 = community ambulation, 5 = normal ambulation; E: 1 = no oral communication possible, 2 = communication with a known person, 3 = frequent repetitions, 4 = incidental repetitions, 5 = effective despite small problems, 6 = effective communication; F: 1 = not self-independent, 2 = minimal self-independent, 3 = sufficient self-independent, 4 = fully self-independent; G: the higher the score, the better the (by fatigue impacted) health-related quality of life, unknown = missing data; H: OPA1 = optic atrophy 1; FBXL = F-box and leucine-rich repeat proteins; SDHA = succinate dehydrogenase complex, subunit A; RARS2 = arginyl-tRNA synthetase 2; ATP6 = ATP synthase 6; MT-TL1 = mitochondrial tRNA leucine; MTFMT = mitochondrial methionyl-tRNA formyltransferase; TAZ = taffazin; NDUFS7 = NADH-ubiquinone oxidoreductase Fe-S protein 7; mt-tRNASer = mitochondrial tRNA serine. |