A scale to monitor progression and treatment of mitochondrial disease in children

C. Phoenix, A. M. Schaefer, J. L. Elson, E. Morava, M. Bugiani, G. Uziel, J. A. Smeitink, D. M. Turnbull, R. McFarland

Research output: Contribution to journalArticle

36 Scopus citations

Abstract

Mitochondrial diseases affect all age groups, but those with childhood onset often seem to experience the greatest burden of disability. In some paediatric patients this can be explained by a cumulative disability acquired over many years. In others, additional factors, including the nature and severity of the molecular defect, must be considered. To date, no large-scale studies have attempted to document the natural history of paediatric mitochondrial disease. This is in part at least, because no assessment tool has been available to plot the temporal course of a disease with such a diverse clinical spectrum. This paper describes how a practical and semi-quantitative rating scale has been devised for children with mitochondrial disease, the Newcastle paediatric mitochondrial disease scale (NPMDS). The scale is multi-dimensional and reproducible, offering a tool through which mitochondrial disease progression can be objectively monitored. We anticipate that use of this tool will facilitate both longitudinal natural history studies and the assessment of future therapeutic interventions.

Original languageEnglish (US)
Pages (from-to)814-820
Number of pages7
JournalNeuromuscular Disorders
Volume16
Issue number12
DOIs
StatePublished - Dec 1 2006

Keywords

  • Disease progression
  • Mitochondrial disease
  • Natural history
  • Paediatric
  • Prospective rating scale

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Clinical Neurology
  • Genetics(clinical)

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  • Cite this

    Phoenix, C., Schaefer, A. M., Elson, J. L., Morava, E., Bugiani, M., Uziel, G., Smeitink, J. A., Turnbull, D. M., & McFarland, R. (2006). A scale to monitor progression and treatment of mitochondrial disease in children. Neuromuscular Disorders, 16(12), 814-820. https://doi.org/10.1016/j.nmd.2006.08.006