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

TY - JOUR

T1 - Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents

AU - Zeltner, Nina A

AU - Landolt, Markus A

AU - Baumgartner, Matthias R

AU - Lageder, Sarah

AU - Quitmann, Julia

AU - Sommer, Rachel

AU - Karall, Daniela

AU - Mühlhausen, Chris

AU - Schlune, Andrea

AU - Scholl-Bürgi, Sabine

AU - Huemer, Martina

PY - 2017/2

Y1 - 2017/2

N2 - 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.

AB - 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.

U2 - 10.1007/8904_2016_545

DO - 10.1007/8904_2016_545

M3 - SCORING: Journal article

C2 - 26983835

VL - 31

SP - 1

EP - 9

JO - JIMD reports

JF - JIMD reports

SN - 2192-8304

ER -