Seizure Action Plans and Health Care Utilization

Investigators from University of Utah School of Medicine studied the impact of a seizure action plan (SAP) on pediatric patients with epilepsy by measuring health care utilization as an outcome measure

Seizure Action Plans for Pediatric Patients with Epilepsy: A Randomized Controlled Trial

OBJECTIVES: Seizure action plans help patients and caregivers better self-manage their epilepsy. We hypothesized that providing pediatric patients and their caregivers with a seizure action plan would reduce unplanned health care utilization and decrease the impact of epilepsy. METHODS: We developed a seizure action plan for use in pediatric epilepsy patients. A prospective cohort was randomly assigned to receive a seizure action plan in addition to standard epilepsy care or to standard epilepsy care alone. All caregivers were surveyed using the Modified Impact on Families (MIF) questionnaire at enrollment, 3 months, and 12 months. Health care utilization measures and Modified Impact on Families questionnaire scores were compared between the 2 groups. RESULTS: Fifty-four patients received a seizure action plan and standard care, whereas 48 received standard care alone. The groups had similar demographics. There was a significantly higher proportion of overall clinic appointment no shows in the standard care group vs the seizure action plan group ( SIGNIFICANCE: Caregivers for patients with epilepsy receiving a seizure action plan were more comfortable regarding seizure care and missed fewer appointments. However, differences in health care utilization were not present. The seizure action plan appears to have more impact in patients who experience lower seizure frequencies. Further studies evaluating the impact as well as assessing caregivers\u27 perceptions of the seizure action plan using a larger sample are needed

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

Developmental and epileptic encephalopathy (DEE) is a group of conditions characterized by the co-occurrence of epilepsy and intellectual disability (ID), typically with developmental plateauing or regression associated with frequent epileptiform activity. The cause of DEE remains unknown in the majority of cases. We performed whole-genome sequencing (WGS) in 197 individuals with unexplained DEE and pharmaco-resistant seizures and in their unaffected parents. We focused our attention on de novo mutations (DNMs) and identified candidate genes containing such variants. We sought to identify additional subjects with DNMs in these genes by performing targeted sequencing in another series of individuals with DEE and by mining various sequencing datasets. We also performed meta-analyses to document enrichment of DNMs in candidate genes by leveraging our WGS dataset with those of several DEE and ID series. By combining these strategies, we were able to provide a causal link between DEE and the following genes: NTRK2, GABRB2, CLTC, DHDDS, NUS1, RAB11A, GABBR2, and SNAP25. Overall, we established a molecular diagnosis in 63/197 (32%) individuals in our WGS series. The main cause of DEE in these individuals was de novo point mutations (53/63 solved cases), followed by inherited mutations (6/63 solved cases) and de novo CNVs (4/63 solved cases). De novo missense variants explained a larger proportion of individuals in our series than in other series that were primarily ascertained because of ID. Moreover, these DNMs were more frequently recurrent than those identified in ID series. These observations indicate that the genetic landscape of DEE might be different from that of ID without epilepsy