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JIMD Rep. 2017;31:1-9. doi: 10.1007/8904_2016_545. Epub 2016 Aug 13.

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

Author information

1
Division of Metabolism and Children's Research Center, University Children's Hospital, Steinwiesstrasse 75, 8032, Zurich, Switzerland.
2
Department of Psychosomatics and Psychiatry, University Children's Hospital, Zurich, Switzerland.
3
Radiz - Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland.
4
Department of Child and Adolescent Health Psychology, Institute of Psychology, University of Zurich, Zurich, Switzerland.
5
Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland.
6
Department of Medical Psychology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
7
Clinic for Paediatrics, Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria.
8
University Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
9
Department of General Pediatrics, Neonatology and Pediatric Cardiology, Heinrich-Heine-University, University Children's Hospital, Dusseldorf, Germany.
10
Division of Metabolism and Children's Research Center, University Children's Hospital, Steinwiesstrasse 75, 8032, Zurich, Switzerland. martina.huemer@kispi.uzh.ch.
11
Radiz - Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland. martina.huemer@kispi.uzh.ch.
12
Department of Paediatrics, LKH Bregenz, Bregenz, Austria. martina.huemer@kispi.uzh.ch.

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.

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