Author/Editor		Rogač, Mihael; Meznarič, Marija; Zeviani, Massimo; Sperl, Wolfgang; Neubauer, David
Title		Functional outcome of children with mitochondrial diseases
Type		članek
Source		Pediatr Neurol
Vol. and No.		Letnik 44, št. 5
Publication year		2011
Volume		str. 340-6
Language		eng
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.
Descriptors		MITOCHONDRIA DISABILITY EVALUATION MOTOR SKILLS SELF CARE CAREGIVERS PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY COGNITION DISORDERS NEUROLOGIC EXAMINATION LACTATES CHILD