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Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents

  • Nina A. Zeltner
  • Markus A. Landolt
  • Matthias R. Baumgartner
  • Sarah Lageder
  • Julia Quitmann
  • Rachel Sommer
  • Daniela Karall
  • Chris Mühlhausen
  • Andrea Schlune
  • Sabine Scholl-Bürgi
  • Martina HuemerEmail author
RESEARCH Report
Part of the JIMD Reports book series (JIMD, volume 31)

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.

Keywords

Focus Group Focus Group Interview Mental Dimension Maple Syrup Urine Disease Core Dimension 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

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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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2016

Authors and Affiliations

  • Nina A. Zeltner
    • 1
    • 2
    • 3
    • 4
  • Markus A. Landolt
    • 2
    • 4
  • Matthias R. Baumgartner
    • 1
    • 3
    • 5
  • Sarah Lageder
    • 4
  • Julia Quitmann
    • 6
  • Rachel Sommer
    • 6
  • Daniela Karall
    • 7
  • Chris Mühlhausen
    • 8
  • Andrea Schlune
    • 9
  • Sabine Scholl-Bürgi
    • 7
  • Martina Huemer
    • 1
    • 3
    • 10
    Email author
  1. 1.Division of Metabolism and Children’s Research CenterUniversity Children’s HospitalZurichSwitzerland
  2. 2.Department of Psychosomatics and PsychiatryUniversity Children’s HospitalZurichSwitzerland
  3. 3.Radiz – Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare DiseasesUniversity of ZurichZurichSwitzerland
  4. 4.Department of Child and Adolescent Health PsychologyInstitute of Psychology, University of ZurichZurichSwitzerland
  5. 5.Zurich Center for Integrative Human PhysiologyUniversity of ZurichZurichSwitzerland
  6. 6.Department of Medical PsychologyUniversity Medical Center Hamburg-EppendorfHamburgGermany
  7. 7.Clinic for Paediatrics, Inherited Metabolic DisordersMedical University of InnsbruckInnsbruckAustria
  8. 8.University Children’s Hospital, University Medical Center Hamburg-EppendorfHamburgGermany
  9. 9.Department of General Pediatrics, Neonatology and Pediatric CardiologyHeinrich-Heine-University, University Children’s HospitalDusseldorfGermany
  10. 10.Department of PaediatricsLKH BregenzBregenzAustria

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