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Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism

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JIMD Reports, Volume 37

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.

“Peter Burgard,” “Markus A. Landolt,” and “Martina Huemer” are contributed equally to this project.

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References

  • Arbuckle JL (1996) Full information estimation in the presence of incomplete data. In: Marcoulides GA, Schumacker RE (eds) Advanced structural equation modeling: issues and techniques. Lawrence Erlbaum Associates, Mahwah, NJ

    Google Scholar 

  • Bühner M (2011) Einführung in die Test- und Fragebogenkonstruktion, 3rd edn. Pearson, Hallbergmoos

    Google Scholar 

  • Bullinger M, Sommer R, Pleil A et al (2015) Evaluation of the American-English quality of life in short stature youth (QoLISSY) questionnaire in the United States. Health Qual Life Outcomes 13:43. doi:10.1186/s12955-015-0236-2

    Article  PubMed  PubMed Central  Google Scholar 

  • Chambers CT (2002) Developmental differences in Children’s use of rating scales. J Pediatr Psychol 27:27–36. doi:10.1093/jpepsy/27.1.27

    Article  PubMed  Google Scholar 

  • Dionisi-Vici C, Rizzo C, Burlina AB et al (2002) Inborn errors of metabolism in the Italian pediatric population: a national retrospective survey. J Pediatr 140:321–327. doi:10.1067/mpd.2002.122394

    Article  PubMed  Google Scholar 

  • Eiser C, Jenney M (2007) Measuring quality of life. Arch Dis Child 92:348–350. doi:10.1136/adc.2005.086405

    Article  PubMed  PubMed Central  Google Scholar 

  • Fabre A, Baumstarck K, Cano A et al (2013) Assessment of quality of life of the children and parents affected by inborn errors of metabolism with restricted diet: preliminary results of a cross-sectional study. Health Qual Life Outcomes 11:158. doi:10.1186/1477-7525-11-158

    Article  PubMed  PubMed Central  Google Scholar 

  • Felder-Puig R, Frey E, Proksch K et al (2004) Validation of the German version of the pediatric quality of life inventory (PedsQL) in childhood cancer patients off treatment and children with epilepsy. Qual Life Res 13:223–234

    Article  CAS  PubMed  Google Scholar 

  • Goldstein H, Akre C, Belanger RE, Suris JC (2013) Detached, distraught or discerning? Fathers of adolescents with chronic illness: a review of the literature. Int J Adolesc Med Health 25:109–117

    Article  PubMed  Google Scholar 

  • Jamiolkowski D, Kölker S, Glahn EM et al (2016) Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders. J Inherit Metab Dis 39:231–241. doi:10.1007/s10545-015-9887-8

    Article  PubMed  Google Scholar 

  • Khangura SD, Tingley K, Chakraborty P et al (2015) Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups. J Inherit Metab Dis. doi:10.1007/s10545-015-9881-1

    PubMed  PubMed Central  Google Scholar 

  • Kölker S, Garcia-Cazorla A, Cazorla AG et al (2015a) The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. J Inherit Metab Dis 38:1041–1057. doi:10.1007/s10545-015-9839-3

    Article  PubMed  Google Scholar 

  • Kölker S, Valayannopoulos V, Burlina AB et al (2015b) The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. J Inherit Metab Dis 38:1059–1074. doi:10.1007/s10545-015-9840-x

    Article  PubMed  Google Scholar 

  • MacCallum RC, Widaman KF, Zhang S, Hong S (1999) Sample size in factor analysis. Psychol Methods 4:84–99. doi:10.1037/1082-989X.4.1.84

    Article  Google Scholar 

  • Matza LS, Patrick DL, Riley AW et al (2013) Pediatric patient-reported outcome instruments for research to support medical product labeling: report of the ISPOR PRO good research practices for the assessment of children and adolescents task force. Value Health 16:461–479. doi:10.1016/j.jval.2013.04.004 S1098-3015(13)01801-9 [pii]

  • Matza LS, Swensen AR, Flood EM et al (2004) Assessment of health-related quality of life in children: a review of conceptual, methodological, and regulatory issues. Value Health 7:79–92. doi:10.1111/j.1524-4733.2004.71273.x

    Article  PubMed  Google Scholar 

  • Packman W, Mehta I, Rafie S et al (2012) Young adults with MSUD and their transition to adulthood: psychosocial issues. J Genet Couns 21:692–703. doi:10.1007/s10897-012-9490-1

    Article  PubMed  Google Scholar 

  • Rajmil L, Herdman M, Fernandez de Sanmamed M et al (2004) Generic health-related quality of life instruments in children and adolescents: a qualitative analysis of content. J Adolesc Health 34:37–45. doi:10.1016/S1054-139X(03)00249-0

    Article  PubMed  Google Scholar 

  • Regnault A, Burlina A, Cunningham A et al (2015) Development and psychometric validation of measures to assess the impact of phenylketonuria and its dietary treatment on patients’ and parents’ quality of life: the phenylketonuria – quality of life (PKU-QOL) questionnaires. Orphanet J Rare Dis 10:59. doi:10.1186/s13023-015-0261-610.1186/s13023-015-0261-6. [pii]

    Article  PubMed  PubMed Central  Google Scholar 

  • Scientific Advisory Committee of the Medical Outcomes Trust (2002) Assessing health status and quality-of-life instruments: attributes and review criteria on JSTOR. Qual Life Res 193–205

    Google Scholar 

  • Solans M, Pane S, Estrada M-D et al (2008) Health-related quality of life measurement in children and adolescents: a systematic review of generic and disease-specific instruments. Value Health 11:742–764. doi:10.1111/j.1524-4733.2007.00293.x

    Article  PubMed  Google Scholar 

  • Summar ML, Koelker S, Freedenberg D et al (2014) The incidence of urea cycle disorders. Mol Genet Metab 110:179–180. doi:10.1016/j.ymgme.2013.07.008

    Article  Google Scholar 

  • The DISABKIDS Group Europe (2006) The DISABKIDS questionnaires. Quality of life questionnaires for children with chronic conditions. Pabst Science Publishers, Lengerich, Germany

    Google Scholar 

  • Upton P, Lawford J, Eiser C (2008) Parent-child agreement across child health-related quality of life instruments: a review of the literature. Qual Life Res 17:895–913. doi:10.1007/s11136-008-9350-5

    Article  PubMed  Google Scholar 

  • Varni JW, Seid M, Rode CA (1999) The PedsQL: measurement model for the pediatric quality of life inventory. Med Care 37:126–139. doi:10.1097/00005650-199902000-00003

    Article  CAS  PubMed  Google Scholar 

  • Velikova G, Booth L, Smith AB et al (2004) Measuring quality of life in routine oncology practice improves communication and patient well-being: a randomized controlled trial. J Clin Oncol 22:714–724. doi:10.1200/JCO.2004.06.078

    Article  PubMed  Google Scholar 

  • Waisbren SE, Gropman AL, Batshaw ML (2016) Improving long term outcomes in urea cycle disorders-report from the urea cycle disorders consortium. J Inherit Metab Dis 39:573–584. doi:10.1007/s10545-016-9942-0

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Wiebe S, Guyatt G, Weaver B et al (2003) Comparative responsiveness of generic and specific quality-of-life instruments. J Clin Epidemiol 56:52–60. doi:10.1016/S0895-4356(02)00537-1

    Article  PubMed  Google Scholar 

  • Zeltner NA, Landolt MA, Baumgartner MR et al (2016) Living with intoxication-type inborn errors of metabolism: a qualitative analysis of interviews with paediatric patients and their parents. JIMD Rep. doi: 10.1007/8904_2016_545

  • Zeltner NA, Huemer M, Baumgartner MR, Landolt MA (2014) Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism – a systematic review. Orphanet J Rare Dis 9:159. doi: 10.1186/s13023-014-0159-8

    Article  PubMed  PubMed Central  Google Scholar 

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Acknowledgements

We thank all patients and parents who participated in the study and shared their experiences of living with IT-IEM. We greatly appreciate the valuable input of Monika Bullinger from the University Medical Center Hamburg-Eppendorf regarding the design of this study. Furthermore, we gratefully acknowledge all colleagues involved for interviews and data management: Manuel Naterop, Michelle Roth, Rachel Sommer, and Stefanie Witt. Finally, we thank Ellen Russon for the translation of the questionnaire items into English. The study was supported by radiz – Clinical Research Priority Program for Rare Diseases from the University of Zurich and by Milupa Metabolics, Friedrichsdorf, Germany.

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Correspondence to Martina Huemer .

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Communicated by: Pascale de Lonlay

Informed Consent

All procedures were followed in accordance with the Helsinki Declaration of 1975, as revised in 2000 and approved by the local ethical committees in Düsseldorf, Hamburg, Heidelberg, Innsbruck, and Zürich. Informed consent was obtained from all participants/their legal representatives to be included in the study.

Supplementary Table 1

Item characteristics and item selection process

Appendices

One Sentence Take-Home Message

A newly developed disease-specific health-related quality of life questionnaire for intoxication-type inborn errors of metabolism (MetabQoL 1.0) allows insight into the subjective burden of disease among children and adolescents.

Details of the Contributions of Individual Authors

N.A.Z. was involved in designing the study, collected and analysed the data, and drafted the manuscript. M.R.B. was involved in designing the study, contributed patient data, and critically reviewed the manuscript. A.B., R.E., D.K., S. K, C.M., S.S.B., and E.T. contributed patient data. J.Q. was involved in study design and gave advice on data analysis. P.B. was involved in coordination of the study and contributed patient data. M.A.L. was involved in designing the study, gave advice on data collection and analysis, and critically reviewed the manuscript. M.H. provided the original concept of the study, coordinated the study, and revised the manuscript. All authors read and approved the final version of the manuscript.

Conflict of Interest

Nina A. Zeltner and Martina Huemer have received research grants from Milupa Metabolics. Matthias R. Baumgartner, Aljona Bondarenko, Regina Ensenauer, Daniela Karall, Stefan Kölker, Chris Mühlhausen, Sabine Scholl-Bürgi, Eva Thimm, Julia Quitmann, Peter Burgard, and Markus A. Landolt declare no conflict of interest.

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Zeltner, N.A. et al. (2017). Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 37. JIMD Reports, vol 37. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2017_11

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  • DOI: https://doi.org/10.1007/8904_2017_11

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