A Systematic Literature Review of the Humanistic Burden Associated With Angelman Syndrome

OBJECTIVES: Angelman syndrome (AS) is a rare genetic disorder caused by a loss of function in the UBE3A gene on chromosome 15. There is no cure, and treatments focus on managing symptoms. The objective of the present review is to provide a comprehensive analysis of the humanistic burden associated with AS.

METHODS: A systematic review was conducted in accordance with PRISMA and Cochrane guidelines, covering the MEDLINE and Embase databases for the past 10 years, to identify publications focusing on the humanistic burden of AS.

RESULTS: Overall, 19 studies, mostly from the USA (n=10), were included. Sample sizes ranged from 13 to 301 participants. Most studies were observational (n=13) and cross-sectional (n=5) in design.

Included studies reported health-related quality of life (HRQoL) data for individuals with AS (13 studies) or their families (6 studies). Across these studies, 31 different scales were used, with the Aberrant Behaviour Checklist-Community Version (ABC-C) (n=6), the Vineland Adaptive Behaviour Scales (Vineland-II) (n=6), and the Sleep Disturbance Scale for Children (SDSC) (n=5) being the most common.

One study highlighted significant sleep problems in children and adolescents with AS, identified using the SDSC. These disturbances were correlated with increased caregiver stress and lower QoL. Another study discovered that maladaptive behaviours in children with AS, including hyperactivity, irritability, and aggression, as measured by the ABC-C, negatively impact parent stress and QoL.

One randomised study reported the mean (standard deviation) utility score of adolescents and adults with AS using EQ-5D-5L as 0.44 (0.20). It was observed that HRQoL in individuals with AS is most impacted by limitations in self-care, mobility, and daily activities, showing poorer HRQoL compared to the general population.

CONCLUSIONS: The humanistic burden of AS significantly impacts patients and caregivers, with major contributors including sleep disturbances, challenging behaviors, communication impairments, and gastrointestinal issues. Effective management is crucial to improve their QoL.