Using the EQ-5D to measure caregiver health-related quality of life in rare pediatric disease: a study in aromatic L-amino acid decarboxylase deficiency

Aims: To evaluate how well the EQ-5D-5L, a generic preference-based measure of health-related quality of life, captures caregiver burden in a rare pediatric neurotransmitter disease. Materials & methods: Caregivers (n = 14) of individuals with aromatic L-amino acid decarboxylase (AADC) deficiency completed qualitative interviews on their experience as a caregiver, the EQ-5D-5L and a background questionnaire. Qualitative and quantitative data were compared to determine whether there was concordance or discordance in the findings. Results: No caregivers reported problems with mobility and self-care in either the qualitative interviews or on the EQ-5D-5L, and there was general concordance for pain/discomfort and anxiety/depression. However, discordance was found for usual activities, with 79% reporting no problems with this dimension on the EQ-5D-5L, compared with 100% describing substantial limitations during the interviews. Conclusion: The EQ-5D-5L may not be appropriate to evaluate caregiver burden in AADC deficiency, where caregivers' perceptions of “usual activities” differ substantially from the general population.