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Evaluation of seizure semiology, genetic, magnetic resonance imaging and electroencephalogram findings in children with Rett syndrome: A multicenter retrospective study

Objectives: It was aimed to evaluate seizure semiology, electroencephalogram (EEG), magnetic resonance imaging (MRI), and genetic findings and treatment choices in Rett syndrome. Methods: One-hundred-twenty cases diagnosed with RTT with a genetic mutation were analyzed retrospectively, by obtaining data from nine centers. Results: In the study 93.3% of patients were female. Typical RTT was found in 70% of the cases. MECP2, FoxG1, and CDKL5 were seen in genetic etiology (resp; 93.8%, 2.7%, and 1.8%) Atypical RTT clinic was seen in 50% of the male studies. In atypical RTT cases, the first EEG was determined to be normal (p=0.01). In seizure semiology, the most common forms were generalized tonic-clonic and myoclonic epilepsy, while absence and focal epilepsy were less common. The most commonly used AEDs were valproate, levetiracetam, lamotrigine, and clobazam, which alter the severity and frequency of seizures (p=0.015, p=<0.001, p=0.022, and p=<0.001, respectively). There were no significant differences in EEG findings. Comparison of the data before and after initiation of anti-seizure medications is given in Table-1. Ketogenic diet and vagal nerve stimulation (VNS) increased cognitive improvement to 50% and steroid treatment to 60%. It was observed that seizures were greatly reduced after VNS application. Conclusion: RTT cases with the clinical diagnosis are needed to investigate the importance of genetic diagnosis. These results are the results of a preliminary study and clinically diagnosed RTT will be included in our study.
Keywords: child, genetic variants, Rett syndrome, epilepsy