热性惊厥附加症伴孤独症临床特征及与SCN1A基因突变的相关性分析

摘要

目的：探讨孤独症在热性惊厥附加症（FS＋）中的临床特征及与SCN1A突变的相互关系。方法：收集并分析在广州医科大学附属第二医院癫痫中心就诊的103例FS＋患者的临床资料。根据国际上认可的标准诊断全面性癫痫伴热性惊厥附加症（GEFS＋）、部分性癫痫伴热性惊厥附加症（PEFS＋）、Dravet综合征（DS）和孤独症。收集FS＋患者血样，测序SCN1A基因并分析结果。结果：53．8％的GEFS＋和69．2％的PEFS＋患者有智力发育障碍，所有的DS患者均存在智力障碍。 GEFS＋和PEFS＋患者中各有1例孤独症，DS患者有9例孤独症（P＜0．01）。FS＋伴孤独症的患者中，PEFS＋中有1例SCN1A突变，而DS则有6例。结论：大部分GEFS＋和PEFS＋患者存在智力发育障碍，而DS均有智力发育障碍。DS伴孤独症的几率高于GEFS＋和PEFS＋。孤独症与SCN1A突变没有明确相关性。%Objective To study the clinical characteristics of autism in febrile seizures plus (FS+) and the relationship between autism and SCN1A mutation. Methods Clinical data of 103 patients with FS+ treated in epilepsy centre of the Second Affiliated Hospital of Guangzhou Medical University were collected and analyzed. According to the international criteria, generalized epilepsy with febrile seizures plus (GEFS+), partial seizures with febrile seizures plus (PEFS+), Dravet syndrome (DS) and autism were diagnosed. Genomic DNA was obtained from blood samples. SCN1A were PCR amplified and mutations were detected by DHPLC and sequencing. Result Mental retardation was found in 53.8%of patients with GEFS+, 69.2%of patients with PEFS+, and all patients with DS, respectively. One in GEFS+, one in PEFS+and nine in DS patients were accompanied with autism (P<0.01). Among FS+patients with autism, one SCN1A mutation was found in PEFS+patients, while six SCN1A mutations were found in DS patients. Conclusions Majority of GEFS+and PEFS+patients showed mental retardation, while all the DS patients were accompanied with retardation. The occurrence of autism with DS is higher than GEFS+and PEFS+. No definite relationship between autism and SCN1A mutation was indicated.