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International Paediatric Mitochondrial Disease Scale.

Saskia Koene1, Jan C M Hendriks2, Ilse Dirks3

  • 1Radboudn Center for Mitochondrial Medicine at the Department of Paediatrics, Radboudumc, Geert Grooteplein 10. 6500 HB, PO BOX 9101, Nijmegen, The Netherlands. Saskia.koene@radboudumc.nl.

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Summary

The International Paediatric Mitochondrial Disease Scale (IPMDS) is a reliable tool for assessing children with mitochondrial diseases. This new scale shows good feasibility, construct validity, and reliability for clinical trials.

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Area of Science:

  • Pediatric Neurology
  • Rare Diseases
  • Clinical Outcome Measures

Background:

  • Mitochondrial diseases in children lack standardized outcome measures.
  • The Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) is an existing measure.
  • International collaboration is needed to develop universal assessment tools.

Purpose of the Study:

  • To adapt the NPMDS into the International Paediatric Mitochondrial Disease Scale (IPMDS).
  • To evaluate the feasibility, construct validity, and reliability of the IPMDS in a multicenter setting.
  • To establish a reliable tool for assessing pediatric mitochondrial disease progression.

Main Methods:

  • A Delphi-based process involving international experts, patients, and caretakers.
  • Pilot reliability study in eight pediatric patients.
  • Multicenter study evaluating feasibility, construct validity, and reliability in 17 patients (aged 1.6-16 years) across five centers.

Main Results:

  • The IPMDS demonstrated good feasibility with low missing item rates (4%) and positive user feedback.
  • Principal component analysis revealed three factors explaining 57.9% of the variance.
  • Good construct validity and high interrater reliability (median ICCagreement 0.85) were observed.

Conclusions:

  • The IPMDS is recommended for assessing the natural history of pediatric mitochondrial diseases.
  • Further research should explore construct validity, age limits, responsiveness, and minimal clinically important differences.
  • The IPMDS can aid in sample size calculations for future clinical trials.