title: Radboud Centre for Mitochondrial Medicine Pediatric MRI score.
abstract: We developed the first user-friendly, semi-quantitative, and quick-to-perform Radboud Centre for Mitochondrial Medicine Pediatric MRI score (RCMM-PMRIS), focusing on the six most commonly described neuroimaging abnormalities in the literature. The RCMM-PMRIS was validated through individual review of 30 sets of brain MRI studies in 24 patients with genetically confirmed mitochondrial disorders by six raters. The application of RCMM-PMRIS can help to define the extent of the brain involvement and therefore to assess the radiological mitochondrial disease severity, to monitor disease progression and consequently to act as an outcome measure for treatment effects in patients with mitochondrial disease.
authors.affiliation: Department of Pediatrics, Radboud Centre for Mitochondrial Medicine, Radboud University Medical Centre, 6500 HB Nijmegen, The Netherlands; Department of Paediatrics and Adolescent Medicine, United Christian Hospital, Hong Kong.
authors.forename: Sheila Suet-Na
authors.initials: SS
authors.lastname: Wong
authors.affiliation: Department of Radiology, Radboud University Medical Centre, 6500 HB Nijmegen, The Netherlands; Department of Diagnostic Imaging, Medical Centre for Postgraduate Education, Warsaw, Poland.
authors.forename: Bozena
authors.initials: B
authors.lastname: Goraj
authors.affiliation: Department of Pediatrics, Radboud Centre for Mitochondrial Medicine, Radboud University Medical Centre, 6500 HB Nijmegen, The Netherlands; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, University of Hong Kong, Hong Kong.
authors.forename: Cheuk-Wing
authors.initials: CW
authors.lastname: Fung
authors.affiliation: Department of Radiology, Radboud University Medical Centre, 6500 HB Nijmegen, The Netherlands.
authors.forename: Jeroen
authors.initials: J
authors.lastname: Vister
authors.affiliation: Department of Pediatrics, Radboud Centre for Mitochondrial Medicine, Radboud University Medical Centre, 6500 HB Nijmegen, The Netherlands.
authors.forename: Lonneke
authors.initials: L
authors.lastname: de Boer
authors.affiliation: Department of Pediatrics, Radboud Centre for Mitochondrial Medicine, Radboud University Medical Centre, 6500 HB Nijmegen, The Netherlands. Electronic address: Saskia.Koene@Radboudumc.nl.
authors.forename: Saskia
authors.initials: S
authors.lastname: Koene
authors.affiliation: Department of Pediatrics, Radboud Centre for Mitochondrial Medicine, Radboud University Medical Centre, 6500 HB Nijmegen, The Netherlands.
authors.forename: Jan
authors.initials: J
authors.lastname: Smeitink
mesh_terms: D000293:Adolescent; D001921:Brain / Q000000981:diagnostic imaging* / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D028361:Mitochondrial Diseases / Q000000981:diagnostic imaging*; D012720:Severity of Illness Index
keywords: End point; Magnetic resonance imaging; Mitochondrial disease; Mitochondrial disorders; Outcome measure