Authors :
Presenting Author: Laurie Bailey, BCPA – UCB, Inc.
Tracy Dixon Salazar, PhD – Lennox-Gastaut Syndrome (LGS) Foundation
Mary Anne Meskis, MS – Dravet Syndrome Foundation
A. Michelle Manzo, MPH – UCB, Inc.
Mercedes Martin, MSN, FNP-C – UCB, Inc.
Amélie Lothe, PhD – UCB Pharma S.A.
Andrea Wilkinson, BA – UCB, Inc.
Rationale:
Developmental and epileptic encephalopathies (DEEs) have a profound impact on the quality of life (QoL) of patients, their primary caregivers, and their siblings. Caregiver definitions of “normal” and “disruptive” symptoms in patients with DEE, and their impact on QoL, have not been extensively explored. To characterize normal and disruptive symptoms and understand their effect on daily life, a survey was administered to caregivers of individuals with DEE.
Methods:
An internet-based anonymous survey (63 questions), 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 patient community events and was open for 7 weeks. Respondents were primary caregivers to a person diagnosed with DEE.
Following demographic questions, the survey focused on characterizing the difference between a patient’s normal and disruptive state to understand how 5 key domains (seizures, sleep, communication, behavior and activities of daily living [ADLs]) affect the individual and their family members (Fig 1).
Results:
In total, 490 caregivers consented, completed the study, and were included in the analysis. The top primary diagnoses were LGS (n=82, 16.7%), SLC6A1 (n=65, 13.3%), and STXBP1 (n=64, 13.1%; Fig 2B); 86 (17.6%) indicated a secondary diagnosis (most commonly, LGS [n=45/86, 52.3%]). The median patient age (range) at the time of the survey and at diagnosis was 8y (0.2-67y) and 3y (0-64y), respectively. Most respondents reported living in the United States (n=358, 73.1%, Fig 2A). More than half of the individuals represented (n=322, 65.7%) had a sibling living in the 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 217 (44.3%) and 157 (32.0%) individuals either once or multiple times per day, respectively. Disruptive seizures, sleep, or behavior reportedly led to temporary loss of communication in 298 (60.8%) patients and of ≥ 1 ADL in 490 (100%) individuals. In 41 (8.4%) individuals, the disruptive symptoms reportedly led to temporary loss of all 4 ADLs included in the survey.
Conclusions:
Each patient with DEE and their family’s experience is unique. Better understanding of caregiver definitions of normal and disruptive experiences and their effects on QoL in patients and their families can help researchers prioritize areas of focus to improve outcomes. The upcoming results from this study may be useful in creating clinical assessments and support tools to improve QoL, with a focus on the symptoms that matter most to each patient and their family.
Funding:
UCB Pharma.