Severe myoclonic epilepsy of infants (Dravet syndrome):: Natural history and neuropsychological findings
Severe myoclonic epilepsy of infants (Dravet syndrome):: Natural history and neuropsychological findings
复制标题
DOI：
10.1111/j.1528-1167.2006.00688.x
复制
发表时间：
2006-01-01
期刊：
影响因子：
5.6
通讯作者：
Dravet, Charlotte
中科院分区：
文献类型：
--
作者：
Wolff, Markus;Casse-Perrot, Catherine;Dravet, Charlotte
婴儿期严重肌阵挛癫痫(SMEI，或Dravet综合征)是一种耐药癫痫，发生在先前健康的儿童的第一年。主要临床表现为长时间反复发热无热性全身性或单侧惊厥性发作。在癫痫发作过程中，认知功能明显恶化，发作间歇期出现肌阵挛、笨拙和共济失调。三分之一的SMEI儿童表现出SCN1A基因的从头突变，其他家族性基因可能与该表型有关。虽然SMEI的临床情况已经得到了很好的研究，但神经心理学数据仍然很少。全球精神发育迟缓、注意力缺陷和精神行为已有报道，但长期结果尚未评估。我们对SMEI儿童进行了一项纵向神经心理学研究。20名年龄在11个月到16岁之间的儿童接受了标准化神经心理测试。对12例患者与其他临床特征进行相关分析。精神运动发育明显减慢或停滞，伴随着精神病或自闭症特征和多动症，在一到四岁之间被观察到。在后期(5至16岁)，认知功能稳定，但仍低于正常水平。在课程更有利的儿童中，语言能力比视觉空间功能得到更好的保护，行为也得到了改善。认知和行为障碍倾向于与惊厥发作的频率相关(每月5次)。这些数据表明，SMEI可以被认为是癫痫脑病的原型。
Severe Myoclonic Epilepsy in infancy (SMEI, or Dravet syndrome) is a drug-resistant epilepsy that occurs in the first year of life of previously healthy children. The main clinical features are prolonged and repeated febrile and afebrile generalized or unilateral convulsive seizures. In the course of the epilepsy, cognitive deterioration becomes evident, and interictal myoclonus, clumsiness and ataxia appear. One third of the children with SMEI show de novo mutations of the SCN1A gene, and additional familial genes probably contribute to the phenotype. While the clinical picture of SMEI has been well studied, neuropsychological data remain scarce. Global mental retardation, attention deficit and psychotic behavior have been reported but the long-term outcome has not been evaluated. We conducted a longitudinal neuropsychological study of children with SMEI. Twenty children, aged 11 months to 16 years, were prospectively examined using standardized neuropsychological tests. Correlation analysis with other clinical features was performed in 12 cases. Marked slowing or stagnation of psychomotor development, accompanied by psychotic or autistic traits and hyperactivity, was observed between the ages of one and four years. In the later stages (at ages 5 to 16 years), cognitive function stabilized but remained below normal. In children with a more favorable course, language capacities were better preserved than visuospatial functions, and behavior improved. The cognitive and behavioral impairment tended to correlate with the frequency of convulsive seizures (> 5 per month). The data suggest that SMEI can be considered as a prototype of an epileptic encephalopathy.