OBJECTIVES: Mitochondrial disease with associated seizures (MDAS) is a metabolic condition affecting both adults and children. In addition to neurological problems, MDAS is characterised by muscle disorders, vision and/or hearing problems. There have been few studies to-date that have explored the impact of MDAS on health-related quality of life (HRQoL), particularly in terms of preference-based measures (PBM) to derive health utility values for use in economic evaluations of MDAS. The aim of this study was to determine whether, if any, PBMs had been used in the literature to evaluate HRQoL in MDAS.

METHODS: A pragmatic literature review was undertaken of the PubMed and Ovid databases in order to identify studies that had included PBMs used in MDAS in both adult and paediatric populations. Key search terms included “mitochondrial disease”, “health utilities”, and “paediatric”. A gap analysis of three commonly used PBMs (EQ-5D, CHU-9D and HUI3) was also undertaken to determine whether these instruments capture the primary signs and symptoms of MDAS.

RESULTS: The literature search identified 124 potentially relevant articles. Following a review of the abstracts and full text screening, 4 eligible studies were selected for data extraction. These studies included a total of 84 paediatric patients. None of the reviewed articles had included a preference-based utility measure. The most frequently used instrument was the Newcastle Paediatric Mitochondrial Disease Scale (n=3 studies). There was little overlap between the main symptoms of MDAS and the 3 main PBMs: muscle weakness and movement disorders were potentially covered by the instruments. Only the HUI3 had items capturing vision and hearing problems, as well as learning disabilities.

CONCLUSIONS: This study demonstrated that no PBMs have been utilised to assess HRQoL in MDAS. Future work is required to determine health utilities associated with levels of MDAS in order to evaluate potential treatments of the condition.