OBJECTIVES: Angelman Syndrome (AS) is a rare neurodevelopmental disorder characterised by intellectual disability, developmental delays, motor dysfunction, speech impairment, and other cognitive disabilities. It is caused by a lack of maternally inherited UBE3A expression. This systematic literature review (SLR) aimed to determine the global economic burden associated with AS.

METHODS: A SLR was conducted under the latest PRISMA guidelines to identify indexed publications in the English language across MEDLINE and Embase® databases for the last 10 years. Studies were screened based on a pre-defined criteria and relevant direct, indirect costs, and resource use data were extracted in a pre-defined extraction grid.

RESULTS: Five publications representing four unique studies were included (two from Australia, one from Spain, and two from the USA), encompassing a total of 806 AS patients with mean age ranging from 5.5 to 11.63 years. In the USA, 68% of patients experienced ≥1 hospitalisation since birth, with a mean hospitalisation of 2.3 (95% confidence interval [CI]:2.1–2.5) and an average length of stay (LOS) of 4.5 days (95%CI:3.8–5.2). Seizures, dental, and respiratory disorders were common reasons for hospitalisation. Patients aged ≤1 year had more frequent and longer LOS than older children.

Patients with AS incurred total costs of A$96,988 per person, with direct costs ranging from A$430 (equipment) to A$28,449 (group home/residential care). Indirect costs ranged from A$8,320 (informal care) to A$19,367 (lost employment). The productivity loss for parents from a societal perspective in Australia over 10 years was A$45.30 million (21.01–218.57). Mothers bore most of the burden (A$25.32 million), despite fathers having higher workforce participation than the average population.

CONCLUSIONS: Evidence on the economic burden of AS, particularly around various costs, is currently limited. Further research is needed for newer therapies to alleviate the economic burden on both patients and the healthcare system.