Abstract
Introduction: Progress in diagnosis and treatment of patients with intoxication-type inborn errors of metabolism (IT-IEM) such as urea cycle disorders, organic acidurias or maple syrup urine disease is resulting in a growing number of long-term survivors. Consequently, health-related quality of life (HrQoL) of patients is increasingly regarded as a meaningful outcome parameter. To develop the first validated, disease-specific HrQoL questionnaire for IT-IEM, patients and parents were interviewed as content experts to identify major physical and psychosocial constraints and resources.
Methods: Focus group interviews with 19 paediatric IT-IEM patients and 26 parents were conducted in four metabolic centres in Austria, Germany and Switzerland. Disease-specific HrQoL categories were established by qualitative content analysis.
Results: Fourteen disease-specific topics related to the three well-established generic HrQoL dimensions of physical, mental and social functioning were derived from the interview transcripts. Both patients and parents perceived dietary restrictions and social stigmatisation as major burdens. Dietary restrictions and emotional burdens were more important for young (<8 years) patients, whereas cognition, fatigue and social issues were more relevant to older patients (≥8 years). Treatment-related topics had a significant effect on social and emotional HrQoL.
Discussion: By exploring patients’ and parents’ perspectives, 14 HrQoL categories were identified. These new categories will allow the development of a disease-specific, standardised questionnaire to assess HrQoL in paediatric IT-IEM patients. Age-appropriate information on the disease and psychosocial support targeted to patients’ individual burdens are essential to the delivery of personalised care that takes account of physical, mental and social dimensions of HrQoL.
Competing interests: None declared
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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 are indebted to Prof. Monika Bullinger, Hamburg, for her valuable input regarding the design of the study. Furthermore, we gratefully acknowledge all colleagues involved as focus group moderators, during transcription and inter-rater reliability testing: Tilla Aegerter, Michael Ertl, Anna Giammarco, Ann-Christin Haag, Ornella Masnari, Miriam Michel, Katharina Nitsche, Corinne Pellegrino and Sabine Weber.
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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Communicated by: Pascale de Lonlay
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Sentence Take-Home Message
Taking patients’ and parents’ perspectives into account allows the definition of meaningful follow-up parameters and the development of personalised interventions.
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Conflict of Interest
Nina A. Zeltner and Martina Huemer have received research grants from Milupa Metabolics. Markus A. Landolt, Matthias R. Baumgartner, Sarah Lageder, Julia Quitmann, Rachel Sommer, Daniela Karall, Chris Mühlhausen, Andrea Schlune and Sabine Scholl-Bürgi declare that they have no conflict of interest.
Informed Consent
All procedures were followed in accordance with the Helsinki Declaration of 1975, as revised in 2000 and approved by the ethical committee in Zurich, Switzerland (KEK-ZH Nr. 2012.0020), and the local ethical committees in Hamburg, Düsseldorf and Innsbruck. Informed consent was obtained from all participants/their legal representatives to be included in the study.
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.A.L. was involved in designing the study, gave advice on data collection and analysis and critically reviewed the manuscript. M.R.B. was involved in designing the study, contributed patient data and critically reviewed the manuscript. S.L. assisted in collecting and analysing the data. J.Q. was involved in designing the study. R.S. was involved in designing the study and collecting the data. C.M., A.S., D.K. and S.S. contributed patient data. 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.
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Zeltner, N.A. et al. (2016). Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 31. JIMD Reports, vol 31. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2016_545
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DOI: https://doi.org/10.1007/8904_2016_545
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