Authors :
Presenting Author: Laurie Bailey, BCPA – UCB
David Bearden, MD – University of Rochester Medical Center
Brad Bryan, PhD, MBA – KCNT1 Epilepsy Foundation
Tracy Dixon-Salazar, PhD – Lennox-Gastaut Syndrome (LGS) Foundation
Jenny Downs, PhD – The Kids Research Institute Australia; Curtin School of Allied Health
Amber Freed, MAcc – 6SLC6A1 Connect
J Michael Graglia, BS – Syngap Research Fund
Amélie Lothe, PhD – UCB
A. Michelle Manzo, MPH, CMPP – UCB
Mercedes Martin, MSN – UCB
Mary Anne Meskis, n/a – Dravet Syndrome Foundation
Pelin Ozluk, PhD – UCB
Lindsay Randall, n/a – Arthur’s Quest SLC6A1 Connect UK
Charlene Son Rigby, MBA – STXBP1 Foundation
Karen Utley, BSN, RN – International Foundation for CDKL5 Research
Andrea Wilkinson, n/a – UCB
Rationale:
People with developmental and epileptic encephalopathies (DEEs) experience severe and frequent seizures along with developmental delays and communication impairments. Studies have shown that people living with DEE primarily depend on caregivers for activities of daily living (ADLs), which include feeding, bathing/hygiene, dressing, and toileting. There are currently no data on the impact of disruptive seizures, sleep, and/or behavior on the ability to communicate and to independently perform ADLs.
Methods:
An internet-based 63-question anonymous survey was distributed to caregivers of people with DEEs via DEE-specific communities. Caregivers responded to questions about 5 key domains and quality of life (QoL). Responses to questions were then utilized to define “normal” (ie, typical) and “disruptive” seizures, sleep, and behavior; their perceived effect on ADLs and communication; and overall impact on QoL. This analysis summarizes data specific to ADLs and communication.Results:
Disruptive seizures, sleep, and/or behavior were reported as impacting communication and/or at least one of the 4 ADLs by 344/489 (70.3%) caregivers (median age of person living with DEE, 8 y). Nearly half of respondents (210, 42.9%) reported that the person living with DEE always required assistance with all 4 ADLs (Fig 1). Assistance was always required for individual ADLs of feeding, bathing/hygiene, dressing, or toileting for 221 (45.2%), 393 (80.4%), 344 (70.3%), and 336 (68.7%) people living with DEE, respectively. A gastrostomy tube was used by 92 (18.8%) people living with DEE. Diapers were used at all times by 302 (61.8%) people with DEE; of these, 252 (83.4%) were >2 years old.
Caregivers reported a temporary loss related to disruptive seizures, sleep, and/or behavior in feeding (115/268, 42.9%), bathing/hygiene (37/96, 38.5%), dressing (84/145, 57.9%), and toileting (47/153, 30.7%) abilities in people living with DEE who did not always require support in the respective ADLs. A total of 297 (60.7%) people living with DEE experienced a temporary loss in ability to communicate.
Conclusions:
Approximately half of respondents reported that they observed a temporary loss by the person living with DEE in their ability to perform ADLs and/or communicate due to disruptive seizures, sleep, and/or behavior. These disruptions to daily life in people living with DEE are challenging, affecting their ability to communicate and/or perform daily tasks, which, in turn, impacts the person and their family’s QoL. Further examinations of normal and disruptive seizures, sleep, and behavior and their relationships with ADLs and communication in people with DEE are warranted.Funding:
UCB