Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents
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.
KeywordsFocus Group Focus Group Interview Mental Dimension Maple Syrup Urine Disease Core Dimension
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.
- Bullinger M (2002) Assessing health related quality of life in medicine. An overview over concepts, methods and applications in international research. Restor Neurol Neurosci 20:93–101Google Scholar
- Cohen J (1988) Statistical power analysis for the behavioural sciences, 2nd edn. Lawrence Erlbaum Associates, HillsdaleGoogle 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 CrossRefPubMedPubMedCentralGoogle Scholar
- Kuckartz U (2014) Qualitative Inhaltsanalyse. Methoden, Praxis, Computerunterstützung., 2nd edn. Beltz Juventa, WeinheimGoogle 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 CrossRefPubMedGoogle Scholar
- Mayring P (2010) Qualitative Inhaltsanalyse, Grundlagen und Techniken, 11th edn. Beltz, Weinheim/BaselGoogle Scholar
- Murphy HR, Wadham C, Rayman G, Skinner TC (2007) Approaches to integrating paediatric diabetes care and structured education: experiences from the Families, Adolescents, and Children’s Teamwork Study (FACTS). Diabet Med 24:1261–1268. doi: 10.1111/j.1464-5491.2007.02229.x CrossRefPubMedGoogle Scholar
- OECD (1999) Classifying educational programmes: manual for ISCED-97 implementation in OECD countries, 1999th edn. OECD Organisation for Economic Co-operation and Development, ParisGoogle 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/s13023-015-0261-6 CrossRefPubMedPubMedCentralGoogle Scholar
- The DISABKIDS Group Europe (2006) The DISABKIDS questionnaires. Quality of life questionnaires for children with chronic conditions. Pabst Science, LengerichGoogle Scholar
- The KIDSCREEN Group Europe (2006) The KIDSCREEN questionnaires. Quality of life questionnaires for children and adolescents. Pabst Science, LengerichGoogle Scholar
- Vogels TC, Verrips GHW, Koopman HM et al (1999) TACQOL manual parent and child form 6–11 years. Leiden Center for Child and Pediatrics LUMC-TNOGoogle Scholar
- World Health Organisation (1947) World Health Organisation Constitution. WHO, GenevaGoogle Scholar
- 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 CrossRefPubMedPubMedCentralGoogle Scholar