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Living with intoxication-type inborn errors of metabolism: a qualitative analysis of interviews with paediatric patients and their parents

Zeltner, Nina A; Landolt, Markus A; Baumgartner, Matthias R; Lageder, Sarah; Quitmann, Julia; Sommer, Rachel; Karall, Daniela; Mühlhausen, Chris; Schlune, Andrea; Scholl-Bürgi, Sabine; Huemer, Martina (2017). 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. JIMD Reports, Volume 31. Berlin, Heidelberg: Springer, 1-9.

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.

Additional indexing

Item Type:Book Section, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
04 Faculty of Medicine > Zurich Center for Integrative Human Physiology (ZIHP)
06 Faculty of Arts > Institute of Psychology
Dewey Decimal Classification:610 Medicine & health
Scopus Subject Areas:Health Sciences > Internal Medicine
Health Sciences > Endocrinology, Diabetes and Metabolism
Life Sciences > Biochemistry, Genetics and Molecular Biology (miscellaneous)
Uncontrolled Keywords:DoktoratPsych Erstautor
Language:English
Date:2017
Deposited On:15 Aug 2016 08:47
Last Modified:15 Oct 2024 01:40
Publisher:Springer
Number:31
ISSN:2192-8304
ISBN:978-3-662-54118-0
OA Status:Closed
Publisher DOI:https://doi.org/10.1007/8904_2016_545
PubMed ID:26983835

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