Cognitive development in Dravet syndrome: A retrospective, multicenter study of 26 patients
Cognitive development in Dravet syndrome: A retrospective, multicenter study of 26 patients
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DOI：
10.1111/j.1528-1167.2010.02925.x
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发表时间：
2011-02-01
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：
Ragona, Francesca;Granata, Tiziana;Dravet, Charlotte
目的：阐明癫痫和遗传背景在决定Dravet综合征患者认知功能预后中的作用。方法：在这项回顾性研究中，我们回顾了26例患者的临床病史和认知功能的发展，这些患者自癫痫发作以来一直接受标准化评估。认知结果被量化为12至60个月之间的微分一般商数（dGQ）。统计分析相关的dGQ基因型和epilepsy course.Key发现：癫痫开始在平均年龄为5.6个月。所有患者均出现长时间惊厥发作，而17例患者报告了失神和肌阵挛。几乎所有患者的认知结局均较差;平均dGQ为33分，范围为6-77分。对个体认知特征的分析确定了7名dGQ < 20分的患者;该患者亚组的主要临床特征是缺乏早期缺席和肌阵挛。整个系列的统计分析未能揭示SCN 1A突变及其类型的存在在认知结果方面的显着差异。特别是，突变携带者的患者最好的认知结果窝藏错义或截断mutations.Significance：Dravet综合征包括不同的癫痫和认知表型，可能导致遗传和表观遗传因素。在这个系列中，肌阵挛和失神的早期出现与最差的认知结果相关。
P>Purpose:To clarify the role of epilepsy and genetic background in determining the cognitive outcome of patients with Dravet syndrome.Methods:In this retrospective study, we reviewed the clinical history and cognitive development of 26 patients who had been followed with standardized evaluations since seizure onset. The cognitive outcome was quantified as differential general quotient (dGQ) between ages 12 and 60 months. Statistical analysis correlated the dGQ with genotype and epilepsy course.Key Findings:Epilepsy started at the mean age of 5.6 months. All patients experienced prolonged convulsive seizures, whereas absences and myoclonus were reported in 17. Cognitive outcome was poor in almost all patients; the mean dGQ was 33 points, varying from 6-77 points. The analysis of individual cognitive profiles identified seven patients in whom the dGQ was < 20 points; the main clinical characteristic in this subset of patients was lack of early absences and myoclonus. The statistical analysis of the whole series failed to reveal significant differences in cognitive outcome with regard to the presence of SCN1A mutations and their type. In particular, mutation-carrier patients with the best cognitive outcome harbored either missense or truncating mutations.Significance:Dravet syndrome encompasses different epileptic and cognitive phenotypes that probably result from both genetic and epigenetic factors. In this series, early appearance of myoclonus and absences was associated with the worst cognitive outcome.