OBJECTIVES: Angelman syndrome (AS) is a rare, genetic, neurodevelopmental condition characterized by severe impairments in speech, behavior, motor skills, and sleep. AS is a chronic condition with heterogeneous clinical manifestations. Individuals with AS are fully dependent on families and caregivers, requiring lifelong and continuing care. For this study, we used the baseline data from the STARS Phase 2 study to assess the quality of life (QoL) among individuals with AS.

METHODS: The STARS Phase 2 study was a randomized, double-blind, placebo-controlled trial of gaboxadol (OV101) in adolescents and adults with AS. The EuroQoL 5-Dimension 5-Level (EQ-5D) was used to measure caregiver perceptions of the AS individuals’ QoL at baseline. The EQ-5D utility index at baseline was generated using standard scoring guidelines.

RESULTS: EQ-5D baseline data was available on eighty-seven participants (mean age, 22.6 ± 6.9 years). Out of the five domains, 50% of caregivers reported that individuals with Angelman syndrome had (i) extreme problems in self-care activities; (ii) moderate problems in usual activities and mobility; and (iii) only slight depression/anxiety problems. Pain and discomfort were the least impacted by AS. EQ-5D utility index scores will be presented.

CONCLUSIONS: AS is a heterogeneous condition with highly variable degrees of severity of symptoms and difficulties. This is the first known study to describe the QoL of individuals with AS using EQ-5D. We found that self-care activities were most impacted, which is consistent with the literature. Future research is needed to assess if EQ-5D can accurately represent the quality of life among individuals with AS.