Objective:

To characterize normal and disruptive symptoms and understand effect on daily life, a survey was administered to caregivers of individuals with developmental and epileptic encephalopathies (DEEs).

Background:

DEEs have a profound impact on patient, caregiver, and sibling(s) quality of life (QoL). Caregiver definitions of “normal” and “disruptive” symptoms in patients with DEEs, and impact on QoL, have not been extensively explored.

Design/Methods:

A 63-question, internet-based anonymous survey, developed in consultation with Dravet syndrome (DS) and Lennox-Gastaut syndrome (LGS) patient communities, was distributed (Mar 2024) via patient advocacy websites, social media, and community events and was open for 7 weeks. Respondents were primary caregivers to patients with DEEs. The survey focused on characterizing the difference between normal and disruptive states and highlighted the impact of 5 key domains (seizures, sleep, communication, behavior and activities of daily living [ADLs]).

Results:

In total, responses from 491 caregivers were included in the analysis. Primary diagnoses included LGS (n=67, 13.6%), SLC6A1 (n=67, 13.6%), and STXBP1 (n=64, 13.0%). Median patient age (range) at time of survey and diagnosis was 8y (0.2-67y) and 3y (0-64y), respectively; 323 (65.8%) had a sibling at home.  Unpredictable seizure activity and sleep without a typical pattern was considered “always disruptive” in 110 (22.4%) and 47 (9.6%) individuals, respectively. Disruptive behavior was observed in 158 (32.2%) individuals multiple times/day. Disruptive seizures, sleep, or behavior reportedly led to temporary loss of communication in 298 (60.8%) patients and of ≥1 ADL in all (100%) individuals. In 41 (8.4%) individuals, disruptive symptoms reportedly led to temporary loss of all 4 ADLs included in the survey.

Conclusions:

Better understanding of caregiver definitions of normal and disruptive experiences and the effects on QoL can help researchers prioritize areas of focus to improve outcomes. Upcoming results from this study may aid in creating clinical assessments and support tools to improve QoL.