Abstracts

Rationale: During their first years of life, children with severe epilepsies are frequently admitted to emergency rooms and hospitals, mostly due to breakthrough seizures. So far, no factors have been identified to mitigate the risk for admissions and re-admission in this population and most hospital admissions can be attributed to the natural history of the underlying disease. With an increasing number of genetic etiologies for severe childhood epilepsies identified, the question arises whether genetic etiologies increase the risk for admission and whether the risk can be reduced by early diagnosis and subsequent treatment changes. We aimed to address this question by analyzing admission patterns in a cohort of known and presumed genetic epilepsies using information derived from the electronic medical records. Methods: We included individuals with known or presumed epilepsies followed at our institutions, also including a subset of individuals with genetic etiologies in epilepsy-related genes who did not have seizures. Genetic etiologies identified by single gene tests, SNP arrays, gene panels, or exome sequencing were manually reviewed. We extracted hospital and emergency room admissions from the electronic medical record data and binned the admission frequencies in one-year increments between birth and age 21. We further calculated 30-day readmission rates, as a healthcare indicator, for all individuals binned into equal time intervals. We analyzed the relationship between the various genetic diagnosis in our cohorts and frequencies of admissions and readmissions over time.  Results: We included 665 individuals with a total of 1822 admissions across a cumulative time period of 3822 years, including 103 distinct genetic diagnoses. The frequency of individuals with at least a single admission in the first year of life was 53.5% and decreased to 20% by age 21. The readmission rate in the first year of life across the entire cohort was 15.7% (95% CI 10.9-22.0%) and declined to 10.3% (95% CI 4.8-19.7%) by age 16. The presence of a genetic diagnosis significantly increased the admission risk, particularly in the first three years of life, including a higher risk for individuals with variants in SCN1A, SCN2A,SCN8A, and KCNQ2. Readmissions in individuals with genetic epilepsies were increased up to two-fold in the first five years of life, but not increased after the age of five. No single gene was significantly associated with an increased readmission rate. Conclusions: Children with severe childhood epilepsies are at a considerable risk for unplanned hospital admission and readmission during the first years of life. Distinct genetic etiologies including SCN1A, SCN2A,SCN8A, and KCNQ2increase the admission risk. Collectively, individuals with genetic diagnoses have higher rates of unplanned admissions and readmissions compared to those without genetic diagnoses. Our results highlight the overall disease severity in genetic epilepsies that is reflected in increased admission and readmission rates, demonstrating the need for strategies that improve the long-term disease course in genetic epilepsies.  Funding: No funding