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

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

Phoenix C; Schaefer AM; Elson JL; Morava E; Bugiani M; Uziel G; Smeitink JA; Turnbull DM; McFarland R

Neuromuscular Disorders

2006

Child; Female; Humans; infant; Male; Great Britain; Prognosis; Disease Progression; Longitudinal Studies; Reproducibility of Results; Observer Variation; Predictive Value of Tests; Disability Evaluation; adolescent; Preschool; infant; Q3 Literature Search; Newborn; Pediatrics/methods; Mitochondrial Diseases/diagnosis/therapy; Mitochondrial Encephalomyopathies/diagnosis/therapy; Neurology/methods

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.

2006

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