Occupational Therapy International

Research Article

Everyday Activities for Children with Mitochondrial Disorder: A Retrospective Chart Review

Table 1

Clinical and genetic characteristics of the children.
Gender ()Age (years)Level of cognitive development ()Level of motor development ()Score on Hoffer scale ()Level of speech ability ()Level of functional abilities of daily activities ()Fatigue score ()Gene ()Mutation
Profile: global low functioning ()
F51214271OPA1c.910C>T
M61311140FBXLc.1361A>C
M121223249SDHAc.64-2A>G
M1812133?RARS2c.442A>G; c.1519G>A
M181233249ATP6m.09176T>C
Profile: low cognitive functioning and moderate to normal ambulation ()
M132446458MT-TL1m.3243A>G
F1312553?RARS2c.442A>G; c.1519G>A
M141353249MTFMTc.626C>T; c.766C>T
M161342332ATP6m.8993T>G
F171356454MT-TL1m.3243A>G
Profile: global moderate functioning ()
M43345365TAZc.788_794del
M43443372ATP6m.8993T>G
F53346372NDUFS7c.364G>A
F53446339MT-TL1m.3243A>G
M73246366ATP6m.09185T>C
M73446338mt-tRNASerm.7507A>G
M133345458MT-TL1m.3243A>G
Total
F:
M: 		Range:
4–18		1:
2:
3:
4: 		1:
2:
3:
4:
5: 		1:
2:
3:
4:
5: 		1:
2:
3:
4:
5:
6: 		1:
2:
3:
4: 		Range:
32–72
2 unknown		  
: 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.