Abstracts

Rationale: Early life epilepsies and encephalopathies comprise complex neurodevelopmental disorders. Impairment across many functional domains, variability in functional ability, and the inter-connectedness among different domains of function are often acknowledged but not systematically studied. Little is known about variability associated with seizures, medication, and sleep. Methods: In partnership with several parent-formed groups, a mixed methods approach was used to explore these complexities and develop and implement preliminary surveys to understand the levels of functional ability across multiple domains (gross and fine motor, eating, communication, behavior, etc.), their inter-relations, and perceived variability with seizures medications and sleep. Assessments included adaptation of legacy measures used in the rehabilitation field such as GMFCS for mobility and CFCS for communication. Surveys constructed in CLIRINX© for web-based administration were disseminated by family groups beginning in 7/2018. Results are based on responses through 5/2019. Analyses focus on participants ≥2 years of age and with recent seizures (in past 6m). Analyses were done in SAS©. Results: The 256 participants represented family groups for Dravet syndrome (101), Lennox-Gastaut syndrome (35), KCNQ2 (52), KCNB1 (41), ESES/CSWS/LKS (20), and other (20). Of the 256, 62 reported no recent seizures and another 16 were <2y-old. 99/178 (56%) of eligible participants were female; median age = 8.8y (IQR 5.3, 15.1, max=38.3). Not all respondents completed all forms; results are based on available data. Nocturnal seizures were reported in 62% of those with recent seizures. 62% with recent seizures also reported use of rescue medications at least once in the past 6 months, and 1/3 used them ≥5 times. Participants with recent seizures reported seizures occurred daily (38%), 1-6 days/week (40%), and less often (22%).24% were partially or fully dependent on some type of equipment for mobility at home, 16% had no functional hand use, 45% had extremely limited or no ability to communicate effectively even with familiar people, 37% needed moderate to full assistance in eating, 74% were partially or fully dependent on someone else for toileting needs, 62% carried one or more behavioral diagnoses. These difficulties were strongly inter-correlated. Recent seizure frequency was correlated with severe impairment for some but not all functional domains. (Figure 1). Parents also reported day-to-day variability in typical functional abilities due to variation in seizure frequency, medications, and poor sleep (Figure 2). Similar patterns were seen across epilepsy groups and by age. Conclusions: Severe impairments in multiple domains are common in young people with ELE regardless of type of epilepsy. Overall, impairments are associated with seizure frequency. Day-to-day function was reportedly sensitive to seizures, rescue medications, and poor sleep. To advance understanding of these disorders and to evaluate effects of therapeutics, measures of these functional domains are needed that are relevant and sensitive to meaningful change in individuals with limited skills. Ideally, such measures should also take into consideration the influences of seizures, medications, and sleep on functional abilities. Funding: Supported by the Stanley Manne Children’s Research Institute and Ann & Robert H. Lurie Children’s Hospital of Chicago under the Precision Medicine Strategic Research Initiative and the Pediatric Epilepsy Research Foundation (PERF).