OBJECTIVES: Mitochondrial diseases are a diverse group of rare disorders which cause deficiencies in mitochondrial function. Seizures affects between 35% and 60% of those diagnosed. These diseases can have a negative impact on patients’ health-related quality of life (HRQoL). This study was undertaken to review evidence on HRQoL, including utilities, in this population.

METHODS: 14 bibliographic databases and information sources were searched in August 2021 to identify studies reporting HRQoL and utilities. Two reviewers independently assessed the records against the eligibility criteria reported in the review protocol. One reviewer extracted data from the eligible studies and a second checked each data point.

RESULTS: Searches identified 1,181 unique records. Four studies reporting HRQoL data were eligible. All studies elicited data from patients, but one study also used data from mothers. Two studies were in children, one in patients aged <16 years, and one in adults. No utility data were available. Data were reported for the Japanese Mitochondrial Disease Rating Scale (range: 65 to 70, maximum score 80), the Newcastle Mitochondrial Disease Adult Scale (range: 108 to 141, maximum score 145), and the Newcastle Paediatric Mitochondrial Disease Scale (range: 6 to 53, maximum score 107). One study reported mean scores for total behavioural problems (67±17, maximum score 100; Korean Child Behaviour Check List), total parenting stress (94±10, maximum score 100; Korean version of the Parenting Stress Index), and maternal depression (15±9, maximum score 63; Beck Depression Inventory). For all the HRQoL data reported, higher scores indicated more severe disease.

CONCLUSIONS: This is a novel review of HRQoL and utilities in mitochondrial diseases associated with seizures. The evidence is limited; HRQoL data are reported using different tools, limiting the comparability of results. Nevertheless, the results highlight the burden associated with mitochondrial disease with seizures: patients reported severe disease and parents a high level of stress.