ACADEMIC AND RESEARCH PEER-REVIEWED MEDICAL JOURNALISSN 1727-2378 (Print)         ISSN 2713-2994 (Online)
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Epilepsy in Children with Rett Syndrome

For citation: Malinina E. V., Zabozlaeva I. V. Epilepsy in Children with Rett syndrome. Doctor.Ru. 2017; 8(137): 18–21.
13 October 00:00

Study Objective: To study clinical features of epilepsy in children with Rett syndrome.

Study Design: This was a single-blind, open-label study.

Materials and Methods: The study was designed to evaluate the health status of 11 girls with Rett syndrome confirmed by genetic testing. The patients' age ranged from two to 14 years.

The study methods included review of clinical and medical-history data, clinical examinations, psychopathological assessments, clinical follow-up, video-electroencephalogram (EEG) monitoring, including recording when awake and asleep, and computed tomography of the brain. The severity of autism and behavioral symptoms was assessed using the Childhood Autism Rating Scale.

Study Results: Five out of the 11 patients with Rett syndrome had epilepsy. EEG showed generalized or regional epileptiform activity (n=1 and n=2, respectively), benign epileptiform discharges of childhood (n=4), regional or generalized slowing (n=4), and electrical status epilepticus (n = 1). Normal EEG activity was observed only in 2 girls.

Conclusion: These children with Rett syndrome had focal epilepsy with atypical absence seizures and motor or secondarily generalized seizures. Onset occurred in stages I, II, or III of the disorder. Epileptiform activity depended on Rett syndrome stage and the use of anti-epileptic medications.

E. V. Malinina — South Ural State Medical University, Russian Ministry of Health, Chelyabinsk. Е-mail: malinina.e@rambler.ru

I. V. Zabozlaeva — South Ural State Medical University, Russian Ministry of Health, Chelyabinsk. E-mail: zabazl@mail.ru

Доктор.ру
13 October 00:00
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