Abstracts

Rationale: Down syndrome occurs in 1 in 650 ?" 1000 births. Epilepsy has been reported in 1-13% of patients with Down's syndrome (Stafstrom et al 1991) compared to 1.5 to 5 % in general population (Forsgren et al 2005). We want to describe the characteristics of epilepsy, imaging findings and treatment response in children with Down syndrome. Methods: Retrospective chart review. Patients were grouped by seizure types. Data on EEG, MRI and outcome was included Results: Sixteen patients with Down syndrome and Epilepsy were identified from 2005-2015 in the database at the Cleveland Clinic. Epilepsy onset was within the first year of life in 12 (75%) children and between 2-6 years in 3 children. Seven (44%) patients had infantile spasms. Brain MRI was normal in all. All patients had hypsarrhythmia on EEG. 5 out of 7 patients (71%) became seizure free with 3 of them responding to Topiramate monotherapy. 2 out of 7 had IS evolving to generalized epilepsy. Follow up duration was 2.5-8 years. At the last follow up, 3 patients had normal EEGs and were off AEDs. Six (37%) patients had generalized seizures. 4 of them had identifiable etiologies which included HIE, PVL, Traumatic brain injury and a stroke. Three had intractable epilepsy. All patients had abnormal EEGs with generalized and multiregional spikes, sharp waves or polyspikes. 2 were seizure free on AEDs and 1 after hemispherectomy. Two patients (12.5%)had focal seizures. One patient (6.5%) had both focal and generalized seizures. No patient had status epilepticus. Conclusions: Children with Down syndrome present with epilepsy early in life. Infantile spasms is the most common seizures type followed by generalized seizures. Patients with infantile spasms had a favorable response to treatment with Topiramate monotherapy in this small cohort. Study of a larger cohort will be necessary to confirm this finding. Funding: None