Abstracts

Rationale: Infantile spasms is a catastrophic epilepsy syndrome that is very difficult to treat. A specific subset of patients with Down syndrome and infantile spasms presents an additional therapeutic challenge due to concomitant general medical issues. To date, no convincing data exists on the most effective treatment option in this patient population. The more common conventional therapies such as ACTH are often not well tolerated or not attempted because of side effect concerns, thus the most effective treatment options are unavailable to these patients. We report 5 patients with infantile spasms and Down syndrome treated with Valproic Acid (VPA). Methods: Retrospective chart review was performed on the patients seen at Children’s Hospital of Pittsburgh and Miami Children’s Hospital from 01/2001 to 03/2009 with Down syndrome and infantile spasms treated with Valproic Acid. Data regarding demographics, seizure type, epilepsy syndrome, EEG findings, and previous antiepileptic medications used were collected and analyzed. Results: Five patients, 3 males and 2 females, with Down syndrome and infantile spasms treated with VPA were identified. Age at onset of spasms was between 5 and 9 months old (mean age 7 months). All 5 patients had hypsarrhythmia or modified hypsarrhythmia on EEG and clinical spasms documented by video EEG monitoring. 4 patients were refractory to at least one other treatment prior to starting VPA. Treatments attempted included ACTH, topiramate, clonazapam, clobazam, rufinamide, vigabatrin, phenobarbital, and oxcarbazepine. One patient was initially treated with VPA. VPA doses used were between 30 and 45 mg/kg/day. All 5 patients became seizure free. In 4 patients hypsarrhythmia resolved within 2 to 4 weeks. Normalization of EEG was seen in 3 patients. One patient was clinically seizure free within 2 months with normalization of EEG within 8 months of treatment. 3 patients have been off VPA for 2 years and remain seizure free; 2 patients remain on therapy with VPA and continue to be seizure free. Conclusions: Valproic Acid appears to have a positive and novel effect on the treatment of infantile spasms in patients with Down syndrome. In this case series, VPA had a beneficial effect on both clinical spasms and interictal EEG. More prospective research is needed to determine the efficacy of VPA as initial monotherapy or an adjunctive therapy for this unique subset of patients.