International Paediatric Mitochondrial Disease Scale

Show simple item record Koene, Saskia Hendriks, Jan C.M. Dirks, Ilse De Boer, Lonneke De Vries, Maaike C. Janssen, Mirian C.H. Smuts, Izelle Fung, Cheuk-Wing Wong, Virginia C.N. De Coo, I. Rene F.M. Vill, Katharina Stendel, Claudia Klopstock, Thomas Falk, Marni J. McCormick, Elizabeth M. McFarland, Robert De Groot, Imelda J.M. Smeitink, Jan A.M. 2017-06-22T11:26:56Z 2017-06-22T11:26:56Z 2016-06-06
dc.description.abstract OBJECTIVE : There is an urgent need for reliable and universally applicable outcome measures for children with mitochondrial diseases. In this study, we aimed to adapt the currently available Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) to the International Paediatric Mitochondrial Disease Scale (IPMDS) during a Delphi-based process with input from international collaborators, patients and caretakers, as well as a pilot reliability study in eight patients. Subsequently, we aimed to test the feasibility, construct validity and reliability of the IPMDS in a multicentre study. METHODS : A clinically, biochemically and genetically heterogeneous group of 17 patients (age 1.6–16 years) from five different expert centres from four different continents were evaluated in this study. RESULTS : The feasibility of the IPMDS was good, as indicated by a low number of missing items (4 %) and the positive evaluation of patients, parents and users. Principal component analysis of our small sample identified three factors, which explained 57.9 % of the variance. Good construct validity was found using hypothesis testing. The overall interrater reliability was good [median intraclass correlation coefficient for agreement between raters (ICCagreement) 0.85; range 0.23–0.99). CONCLUSION : In conclusion, we suggest using the IPMDS for assessing natural history in children with mitochondrial diseases. These data should be used to further explore construct validity of the IPMDS and to set age limits. In parallel, responsiveness and the minimal clinically important difference should be studied to facilitate sample size calculations in future clinical trials. en_ZA
dc.description.department Paediatrics and Child Health en_ZA
dc.description.librarian am2017 en_ZA
dc.description.sponsorship The work of SK and JS was sponsored by ZonMW (The Netherlands Organization for Health Research and Development). en_ZA
dc.description.uri en_ZA
dc.identifier.citation Koene, S, Hendriks, JCM, Dirks, I, De Boer, L, De Vries, MC, Janssen, MCH, Smuts, I, Fung, C-W, Wong, VCN, De Coo, RFM, Vill, K, Stendel, C, Klopstock, T, Falk, MJ, McCormick, EM, McFarland, R, De Groot, IJM & Smeitink, JAM 2016, 'International Paediatric Mitochondrial Disease Scale', Journal of Inherited Metabolic Disease, vol. 39, pp. 705-712. en_ZA
dc.identifier.issn 0141-8955 (print)
dc.identifier.issn 1573-2665 (online)
dc.identifier.other 10.1007/s10545-016-9948-7
dc.language.iso en en_ZA
dc.publisher Springer Verlag en_ZA
dc.rights © The Author(s) 2016. This article is published with open access. en_ZA
dc.subject Children en_ZA
dc.subject Feasibility en_ZA
dc.subject Hypothesis testing en_ZA
dc.subject Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) en_ZA
dc.subject International Paediatric Mitochondrial Disease Scale (IPMDS) en_ZA
dc.title International Paediatric Mitochondrial Disease Scale en_ZA
dc.type Article en_ZA

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