Nina A Zeltner1,2,3,4, Matthias R Baumgartner1,3,5, Aljona Bondarenko6, Regina Ensenauer7, Daniela Karall8, Stefan Kölker6, Chris Mühlhausen9, Sabine Scholl-Bürgi8, Eva Thimm7, Julia Quitmann10, Peter Burgard6, Markus A Landolt2,4, Martina Huemer11,12,13. 1. Division of Metabolism, Children's Research Center, University Children's Hospital, Zurich, Switzerland. 2. Department of Psychosomatics and Psychiatry, Children's Research Center, University Children's Hospital, Zurich, Switzerland. 3. radiz - Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland. 4. Division of Child and Adolescent Health Psychology, Department of Psychology, University of Zurich, Zurich, Switzerland. 5. Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland. 6. Center for Paediatric and Adolescent Medicine, Division for Neuropaediatrics and Metabolic Medicine, Heidelberg University Hospital, Heidelberg, Germany. 7. Division of Experimental Pediatrics and Metabolism, Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich Heine University Düsseldorf, Düsseldorf, Germany. 8. Clinic for Pediatrics, Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria. 9. University Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. 10. Department of Medical Psychology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. 11. Division of Metabolism, Children's Research Center, University Children's Hospital, Zurich, Switzerland. martina.huemer@kispi.uzh.ch. 12. radiz - Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland. martina.huemer@kispi.uzh.ch. 13. Department of Paediatrics, LKH Bregenz, Bregenz, Austria. martina.huemer@kispi.uzh.ch.
Abstract
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.
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.
Entities:
Keywords:
Inborn errors of metabolism; Organic acidurias; Quality of life; Questionnaire; Urea cycle disorders
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