Functional outcome of children with mitochondrial diseases

Mihael Rogac, Marija Meznaric, Massimo Zeviani, Wolfgang Sperl, David Neubauer

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)340-346
Number of pages7
JournalPediatric Neurology
Volume44
Issue number5
DOIs
Publication statusPublished - May 2011

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

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