title: Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents.
abstract: BACKGROUND
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Division of Metabolism and Children's Research Center, University Children's Hospital, Steinwiesstrasse 75, 8032, Zurich, Switzerland.|Department of Psychosomatics and Psychiatry, University Children's Hospital, Zurich, Switzerland.|Radiz - Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland.|Department of Child and Adolescent Health Psychology, Institute of Psychology, University of Zurich, Zurich, Switzerland.
authors.forename: Nina A
authors.initials: NA
authors.lastname: Zeltner
authors.affiliation: Department of Psychosomatics and Psychiatry, University Children's Hospital, Zurich, Switzerland.|Department of Child and Adolescent Health Psychology, Institute of Psychology, University of Zurich, Zurich, Switzerland.
authors.forename: Markus A
authors.initials: MA
authors.lastname: Landolt
authors.affiliation: Division of Metabolism and Children's Research Center, University Children's Hospital, Steinwiesstrasse 75, 8032, Zurich, Switzerland.|Radiz - Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland.|Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland.
authors.forename: Matthias R
authors.initials: MR
authors.lastname: Baumgartner
authors.affiliation: Department of Child and Adolescent Health Psychology, Institute of Psychology, University of Zurich, Zurich, Switzerland.
authors.forename: Sarah
authors.initials: S
authors.lastname: Lageder
authors.affiliation: Department of Medical Psychology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
authors.forename: Julia
authors.initials: J
authors.lastname: Quitmann
authors.affiliation: Department of Medical Psychology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
authors.forename: Rachel
authors.initials: R
authors.lastname: Sommer
authors.affiliation: Clinic for Paediatrics, Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria.
authors.forename: Daniela
authors.initials: D
authors.lastname: Karall
authors.affiliation: University Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
authors.forename: Chris
authors.initials: C
authors.lastname: Mühlhausen
authors.affiliation: Department of General Pediatrics, Neonatology and Pediatric Cardiology, Heinrich-Heine-University, University Children's Hospital, Dusseldorf, Germany.
authors.forename: Andrea
authors.initials: A
authors.lastname: Schlune
authors.affiliation: Clinic for Paediatrics, Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria.
authors.forename: Sabine
authors.initials: S
authors.lastname: Scholl-Bürgi
authors.affiliation: Division of Metabolism and Children's Research Center, University Children's Hospital, Steinwiesstrasse 75, 8032, Zurich, Switzerland. martina.huemer@kispi.uzh.ch.|Radiz - Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland. martina.huemer@kispi.uzh.ch.|Department of Paediatrics, LKH Bregenz, Bregenz, Austria. martina.huemer@kispi.uzh.ch.
authors.forename: Martina
authors.initials: M
authors.lastname: Huemer