title: Functional outcome of children with mitochondrial diseases.
abstract: We evaluated the functional outcome in a cohort of 22 children with mitochondrial diseases. The Pediatric Evaluation of Disability Inventory was administered and scaled scores determined. A large variability in functional skills was seen in all 3 assessed domains: Self-Care (46.4 ± 25.6 S.D.; median 42.4; range 11.8-100), Mobility (47.1 ± 30.4 S.D.; median 46.7; range 6.1-100), and Social Function (49.7 ± 22.3 S.D.; median 45.6; range 21.6-100). There was also a large variability in caregiver assistance, ranging from independent functioning to total dependence on assistance for the following: Self-Care (29.0 ± 33.7 S.D.; median 10.1; range 0-100), Mobility (36.6 ± 38.5 S.D.; median 26.1; range 0-100), and Social Function (42.9 ± 32.4 S.D.; median 44.4; range 0-100). The Pediatric Evaluation of Disability Inventory scores describe in depth different, but strongly related, aspects of everyday functioning in children with mitochondrial diseases. The importance of caregiver assistance in helping these children should not be underestimated. The use of assistive devices was estimated, which were found to be used by few patients.
authors.affiliation: Department of Child, Adolescent and Developmental Neurology, Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia. mihael.rogac@mf.uni-lj.si
authors.forename: Mihael
authors.initials: M
authors.lastname: Rogac
authors.forename: Marija
authors.initials: M
authors.lastname: Meznaric
authors.forename: Massimo
authors.initials: M
authors.lastname: Zeviani
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Sperl
authors.forename: David
authors.initials: D
authors.lastname: Neubauer
mesh_terms: D000203:Activities of Daily Living; D000293:Adolescent; D017028:Caregivers; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D004185:Disability Evaluation; D019988:Children with Disabilities / Q000534:rehabilitation; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D028361:Mitochondrial Diseases / Q000451:nursing / Q000503:physiopathology* / Q000523:psychology; D009048:Motor Skills / Q000502:physiology*; D012648:Self Care / Q000379:methods; D012919:Social Behavior; D055815:Young Adult