Abstracts

Rationale: Angelman syndrome (AS) is a neurodevelopmental disorder caused by different genetic mutations involving 15q chromosome, and is characterized by a happy disposition with bouts of laughter, developmental delay, speech impairment, ataxia, and seizures. A previous survey assessed seizure types and response to anti-seizure medications (ASM) in AS. The goal of this study was to characterize the phenomenon of falls, use of cannabidiol (CBD), and factors affecting Quality of Life (QOL) in AS individuals.

Methods: A web-based anonymous survey was distributed by the Angelman Syndrome Foundation (ASF), via newsletter and social media, to caregivers of individuals with AS. The survey contained questions on demographics, type of mutation, mobility, seizure types, falls, treatment, and Peds-QOL questionnaire. Study was approved by Drexel University College of Medicine Institutional Review Board.

Results: There were 176 AS individuals (age 19.4 ± 13.2 years), about half male and female; 82% (145) were from USA and 18% (31) from other countries. Majority of mutations (62%) were identified as a genetic deletion. About half (52.8%) had no problems walking, 34% walked with assistance, 3.4% no longer walked; and 8.5% never walked; 85% of caregivers felt physical therapy was helpful. About 70% of AS individuals had sleeping problems in the last 30 days. Most of them had seizures at some point (80%), but seizures occurred at an even higher rate (90%) in those with genetic deletions (p=0.023, Pearson Chi-Square). Notably, most had a decrease in seizures with age (56.7%), and only 30% had seizures at the time of the survey. 
_x000D_ Acute falls were experienced at some point by 58% of individuals, and 10.8% had serious injuries resulting from falls, including bone fractures, bruises, stitches and even a brain hematoma. Caregivers felt that traditional ASM, CBD or clonidine helped control falls, and most (70.8%) had the understanding that the falls were seizure-related.

A quarter of individuals had received CBD (23.9%), most of them from a dispensary or on-line source. About a third of the caregivers felt CBD was helpful for seizures, but, for some with AS, CBD was used for other purposes, including mood, sleep, or alertness.

A logistic regression analyzing caregiver perceptions of factors impacting Total QOL revealed that the inability to walk, falls/drops, and sleep problems significantly negatively affected QOL (ANOVA p=0.003, 0.03 and 0.04 respectively); seizures were not a statistically significant factor (p=0.059). QOL was not influenced by gender, distance to the hospital, or type of genetic abnormality.

Conclusions: This study revealed that falls create a significant degree of morbidity in individuals with AS. For most, seizures decreased over time. The main factors identified by caregivers as negatively impacting QOL in AS individuals was their inability to walk, falls, and sleep problems. As in other studies, these findings suggest that seizures are the tip of the iceberg. Use of brief, valid screening tools can assist providers with understanding and addressing issues of primary concern to caregivers and AS families.

Funding: Please list any funding that was received in support of this abstract.: None.