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- 2016
SCN1A基因突变阳性的Dravet综合征患儿的临床特征分析
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Abstract:
摘要：目的 分析携带SCN1A基因突变的Dravet综合征患儿的临床表现特征，以期为临床治疗做出正确决策提供帮助。方法 回顾性分析了29名Dravet综合征患儿的临床资料(男性16名，女性13名，平均年龄3.2岁)，并对患儿进行了SCN1A的基因检测、认知功能评价及脑电图分析。 结果 19例患儿检测到SCN1A基因突变，包括错义突变、无义突变、剪接突变以及大片段缺失。SCN1A+组的平均发病年龄为6.07月，SCN1A-组为10.00月(t=3.465，P=0.020)。SCN1A+组首次发作即为癫痫持续状态(SE)的患儿比例为68.4%(13/19)，SCN1A-组为10%(P<0.05)，1岁以前月发作频率SCN1A+组为(5.44±1.62)次，SCN1A-组为(0.98±0.4)次(P<0.05)。SCN1A+组患儿脑电背景波出现弥漫性慢波的比例为73.7%(14/19)，SCN1A-组为3例(30%)(P<0.05)。精神运动发育评估的结果在两组间无统计学差异(P>0.05)。结论 SCN1A基因突变阳性患儿发病年龄早、发作频率高、SE患儿比例高、脑电图背景更容易出现弥漫性慢活动。
ABSTRACT: Objective To analyze the characteristics of the clinical manifestations of Dravet syndrome (DS) children with SCN1A gene mutations so as to help pediatricians to make right decisions to treat DS patients. Methods Twenty-nine DS patients (16 males and 13 females, mean age of 3.2 years old) were retrospectively studied. The clinical records, including SCN1A gene test, psychomotor developmental assessmentsm, and electroencephalogram, were collected. Results SCN1A gene mutation was detected in 19 cases, including missense mutation, nonsense mutation, splicing mutation and a deletion. The average age of seizure onset was 6.07 months in SCN1A+ group, 10.00 months in SCN1A- group (t=3.465, P=3.465). The ratio of first seizure as epilepticus status was 68.4% (13/19) in SCN1A+ group and 10% in SCN1A- group. The attacks per month before the age of 1 year was 5.44±1.62 times in SCN1A+ group and 0.98±0.4 times in SCN1A- group. The ratio of diffuse slowing in the ictal electroencephalogram was 73.7% (14/19) in SCN1A+ group. All the above indexes were significantly different. Psychomotor developmental assessment results did not differ between the two groups (P>0.05). Conclusion DS patients in SCN1A mutation positive group manifested early onset of seizures, long duration of the first seizure, frequent episodes before the first year and diffuse slow activity in electroencephalograph
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