Development and psychometric evaluation of the MetabQoL 1.0: a quality of life questionnaire for paediatric patients with intoxication-type inborn errors of metabolism
Introduction: This study is part of the “European network and registry for intoxication type metabolic diseases” (E-IMD) project. Intoxication-type inborn errors of metabolism (IT-IEM) such as urea cycle disorders (UCD) and organic acidurias (OA) have a major impact on patients’ lives. Patients have...
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| Main Authors: | , , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
01 March 2017
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| In: |
JIMD reports
Year: 2017, Volume: 37, Pages: 27-35 |
| ISSN: | 2192-8312 |
| DOI: | 10.1007/8904_2017_11 |
| Online Access: | Verlag, Volltext: http://dx.doi.org/10.1007/8904_2017_11 Verlag, Volltext: https://link.springer.com/chapter/10.1007/8904_2017_11 
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| Author Notes: | Nina A. Zeltner, Matthias R. Baumgartner, Aljona Bondarenko, Regina Ensenauer, Daniela Karall, Stefan Kölker, Chris Mühlhausen, Sabine Scholl-Bürgi, Eva Thimm, Julia Quitmann, Peter Burgard, Markus A. Landolt, Martina Huemer |
| Summary: | Introduction: This study is part of the “European network and registry for intoxication type metabolic diseases” (E-IMD) project. Intoxication-type inborn errors of metabolism (IT-IEM) such as urea cycle disorders (UCD) and organic acidurias (OA) have a major impact on patients’ lives. Patients have to adhere to strict diet and medication and may suffer from metabolic crises and neurocognitive impairment. Disease-specific health-related quality of life (HrQoL) assessment questionnaires are the method of choice to estimate the subjective burden of a disease. To date, no such instrument is available for IT-IEM. Methods: Disease-specific patient- and parent-reported HrQoL questions were constructed in German based on focus group interviews with patients and parents. Questionnaires for patients from 8 to 18 years were piloted with 14 participants (n = 9 children and adolescents, n = 5 parents) by cognitive debriefing and tested psychometrically with 80 participants (n = 38 patients, n = 42 parents) for item characteristics, validity, and reliability to construct the first version of a disease-specific HrQoL questionnaire. Results: Twenty-eight questions were selected based on item descriptives. Scales of self- and proxy questionnaires demonstrated acceptable to excellent reliability in terms of internal consistency (Cronbach’s α = 0.70-0.93). Scales and total scores correlated with those of generic HrQoL questionnaires, showing convergent validity. Discussion: The MetabQoL 1.0 questionnaire exhibits sound psychometric properties and is a promising step towards assessing patient-reported outcomes in research and clinical practice. It provides a solid basis for translation into other languages and further elaboration and psychometric exploration in larger populations. |
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| Item Description: | Gesehen am 24.07.2018 |
| Physical Description: | Online Resource |
| ISSN: | 2192-8312 |
| DOI: | 10.1007/8904_2017_11 |