Abstracts

RATIONALE: At the end of this activity the participants should be able to discuss Topiramate and its use in Rett Syndrome.
Rett syndrome, a neurodevelopmental disorder, manifests in the first few years of life with developmental arrest, stereotyped behaviors, and respiratory abnormalities. Seizures occur in 70-80% of patients, usually between 5 and 15 years. Epilepsy may become severe and intractable by school age but lessens in severity by adulthood. Clinical drug trials have not shown superiority of any specific AED.
METHODS: We report our experience with topiramate in 7 patients with Rett syndrome.
RESULTS: Age of seizure onset varied from 1.5 to 9 years. The most common seizure type was complex partial seizures. Topiramate was initiated as monotherapy in 4 patients and as adjunctive therapy in three patients. The mean age at topiramate initiation was 12.5 years (range 4 - 31 years). In 6 patients, not only were seizures well controlled, but respiratory abnormalities improved by 50 - 75%. In one patient, topiramate was discontinued one week after initiation due to canker sores and poor oral intake. There was no reported appetite change in the other six. In another patient, topiramate was discontinued 3 months after initiation despite good seizure control due to maternal concern of possible side effects.
CONCLUSIONS: In our cohort, 6 out of 7 patients showed benefit in seizure control and respiratory abnormalities on topiramate. In general, topiramate was well tolerated. Topiramate is a broad-spectrum drug and its benefits may be due to its GABAergic and glutaminergic effects, both systems thought to be disordered in Rett syndrome.