Table 1.
Clinical and genetic characteristics of the children.
| Gender (A) | Age (years) | Level of cognitive development (B) | Level of motor development (C) | Score on Hoffer scale (D) | Level of speech ability (E) | Level of functional abilities of daily activities (F) | Fatigue score (G) | Gene (H) | Mutation |
|---|---|---|---|---|---|---|---|---|---|
| Profile: global low functioning (N = 5) | |||||||||
| F | 5 | 1 | 2 | 1 | 4 | 2 | 71 | OPA1 | c.910C>T |
| M | 6 | 1 | 3 | 1 | 1 | 1 | 40 | FBXL | c.1361A>C |
| M | 12 | 1 | 2 | 2 | 3 | 2 | 49 | SDHA | c.64-2A>G |
| M | 18 | 1 | 2 | 1 | 3 | 3 | ? | RARS2 | c.442A>G; c.1519G>A |
| M | 18 | 1 | 2 | 3 | 3 | 2 | 49 | ATP6 | m.09176T>C |
|
| |||||||||
| Profile: low cognitive functioning and moderate to normal ambulation (N = 5) | |||||||||
| M | 13 | 2 | 4 | 4 | 6 | 4 | 58 | MT-TL1 | m.3243A>G |
| F | 13 | 1 | 2 | 5 | 5 | 3 | ? | RARS2 | c.442A>G; c.1519G>A |
| M | 14 | 1 | 3 | 5 | 3 | 2 | 49 | MTFMT | c.626C>T; c.766C>T |
| M | 16 | 1 | 3 | 4 | 2 | 3 | 32 | ATP6 | m.8993T>G |
| F | 17 | 1 | 3 | 5 | 6 | 4 | 54 | MT-TL1 | m.3243A>G |
|
| |||||||||
| Profile: global moderate functioning (N = 7) | |||||||||
| M | 4 | 3 | 3 | 4 | 5 | 3 | 65 | TAZ | c.788_794del |
| M | 4 | 3 | 4 | 4 | 3 | 3 | 72 | ATP6 | m.8993T>G |
| F | 5 | 3 | 3 | 4 | 6 | 3 | 72 | NDUFS7 | c.364G>A |
| F | 5 | 3 | 4 | 4 | 6 | 3 | 39 | MT-TL1 | m.3243A>G |
| M | 7 | 3 | 2 | 4 | 6 | 3 | 66 | ATP6 | m.09185T>C |
| M | 7 | 3 | 4 | 4 | 6 | 3 | 38 | mt-tRNASer | m.7507A>G |
| M | 13 | 3 | 3 | 4 | 5 | 4 | 58 | MT-TL1 | m.3243A>G |
|
| |||||||||
| Total | |||||||||
| F: N = 5 M: N = 12 |
Range: 4–18 |
1: N = 9 2: N = 1 3: N = 7 4: N = 0 |
1: N = 0 2: N = 6 3: N = 7 4: N = 4 5: N = 0 |
1: N = 3 2: N = 1 3: N = 1 4: N = 9 5: N = 3 |
1: N = 1 2: N = 1 3: N = 5 4: N = 1 5: N = 3 6: N = 6 |
1: N = 1 2: N = 2 3: N = 11 4: N = 3 |
Range: 32–72 2 unknown |
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A: 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.