Krajnc Natalija, Župančič Neža, Oražem Jasna
University Children's Hospital, Department of Child, Adolescent and Developmental Neurology, Ljubljana, Slovenia.
J Child Neurol. 2011 Nov;26(11):1429-33. doi: 10.1177/0883073811408422. Epub 2011 Jun 2.
Rett syndrome is a neurodevelopmental disorder predominately affecting females. The majority of patients have epilepsy in the early stages of the disease. This study evaluates the clinical course of epilepsy and the effect of antiepileptic drug treatment in Rett syndrome using retrospective data analysis. Epilepsy was present in 16 of 19 (84%) patients with Rett syndrome in this series. The mean age of seizure onset was 4 years. Remission of seizures was achieved after the first monotherapy in 56% and after the second monotherapy in 18.5% of patients. Valproate, lamotrigine, and carbamazepine were the drugs used most frequently as monotherapy. Valproate monotherapy was highly effective as 75% of treated patients achieved seizure remission. Monotherapy with lamotrigine or carbamazepine was effective in half of the treated patients. There was a clear tendency toward seizure remission after the age of 15 years.
雷特综合征是一种主要影响女性的神经发育障碍疾病。大多数患者在疾病早期患有癫痫。本研究采用回顾性数据分析评估雷特综合征患者癫痫的临床病程及抗癫痫药物治疗的效果。本系列中19例雷特综合征患者中有16例（84%）患有癫痫。癫痫发作的平均年龄为4岁。56%的患者在首次单一疗法后癫痫发作得到缓解，18.5%的患者在第二次单一疗法后癫痫发作得到缓解。丙戊酸盐、拉莫三嗪和卡马西平是最常作为单一疗法使用的药物。丙戊酸盐单一疗法非常有效，75%接受治疗的患者癫痫发作得到缓解。拉莫三嗪或卡马西平单一疗法在一半接受治疗的患者中有效。15岁以后癫痫发作有明显的缓解趋势。
