OBJECTIVES: Angelman syndrome (AS) is a rare neurodevelopmental disorder caused by loss of UBE3A expression in neurons. Patients exhibit intellectual disability, balance disorders, behavioural issues, seizures, sleep disturbances, and speech impairment. The most common genetic cause is a deletion on chromosome 15q11-q13 encompassing the UBE3A gene. Other causes include pathogenic variants in UBE3A, imprinting defects, and paternal uniparental disomy for chromosome 15, collectively known as non-deletion AS. To examine treatment costs and healthcare resource use (HRU) of patients with AS.

METHODS: We systematically searched Embase^® and MEDLINE^® via Embase.com for English-language articles reporting cost and HRU data in patients with AS.

RESULTS: Among 162 records screened, 10 studies were included. Data were mostly reported for the US, Australia, and Spain. The mean annual cost (AUS$) per person reported in Australia was 96,988 (95% CI: 59,025–134,951) and the mean medication cost (AUS$) was 587 (364-810). The mean number of hospitalizations was 2.3 (95% CI: 2.1–2.5) and average length of stay (LOS) was 4.5 days. Deletion and non-deletion patients had similar rates of hospitalization and LOS. The mean number of hospitalizations decreased by 27%, from 1.5 at age 1 year to 1.1 at age 12 years. From 2006–2014, 85.7% were hospitalized at least once. There was a total of 97 hospitalizations, of which 76.3% were inpatients under 18 years-old. The most frequent causes of hospitalization were: oral–dental care (28.9%), seizures (19.6%), orthopaedic problems (14.4%) and acute respiratory disorders (12.4%). The percentage of hospitalizations for oral–dental care was higher in women (39.7% versus 12.8% in men, p<0.05) and for orthopaedic problems was higher in men (25.6% versus 6.9% in women, p <0.05).

CONCLUSIONS: