Developing outcome measures for pediatric mitochondrial disorders: Which complaints and limitations are most burdensome to patients and their parents?

Saskia Koene, Saskia B. Wortmann, Maaike C. de Vries, An I. Jonckheere, Eva Morava, Imelda J.M. de Groot, Jan A.M. Smeitink

Research output: Contribution to journalArticle

23 Scopus citations


Since some drug intervention effects are only experienced by the patient, organizations such as the Food and Drug Administration prefer clinically meaningful outcome measures. Here, we evaluated which symptoms and limitations in daily life are most burdensome to pediatric patients with mitochondrial disorders and their parents, using two questionnaires. In a study of 78 patients, the most burdensome complaints included fatigue, behavior and speech disturbances, epilepsy and muscle weakness and a high degree of limitations in daily activities was found. Importantly, there was a discrepancy between what symptoms metabolic pediatricians estimated would be most burdensome compared to the patients'/caretakers' opinion. To include feasible and relevant outcome measures in intervention studies, the experience and opinions of patients and caretakers should therefore be heard.

Original languageEnglish (US)
Pages (from-to)15-24
Number of pages10
Issue number1
StatePublished - Jan 1 2013



  • Clinical trial
  • Mitochondrial disease
  • Outcome measures
  • Patient perspective

ASJC Scopus subject areas

  • Molecular Medicine
  • Molecular Biology
  • Cell Biology

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