ABSTRACT

Rett syndrome (RS) is a neurodevelopmental disorder that primarily affects girls and is characterized by microcephaly, regression of language, loss of effective hand use, epilepsy, and electroencephalogram (EEG) abnormalities. This study investigated EEG findings of 12 female patients diagnosed with RS.

Twelve girls with RS who were treated by İstanbul University İstanbul Faculty of Medicine Department of Neurology were examined clinically and electrophysiologically.

Age of the patients ranged between 3 years, 1 month and 16 years, 8 months. Seizures were present in 9 cases. At time of first EEG, 10 of these patients were in stage II, and 2 patients were in stage III. The first EEG of 5 patients was normal. Six patients, 5 in stage II and 1 in stage III, had central spikes. During the observation period, 4 cases continued to demonstrate central spikes as progression advanced from stage II to III.

Clinicians need to be familiar with RS diagnostic criteria and the staging of this syndrome in order to request appropriate genetic testing. Continued EEG follow-up is helpful in the clinical management of patients with RS as well as for collection of scientific data.

Keywords: EEG, electroencephalography, epileptiform activity, Rett syndrome