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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 investigate the clinical features of autism associated with febrile seizures (FS +) and its relationship with SCN1A mutation. Methods: The clinical data of 103 FS + patients attending epilepsy center of Second Affiliated Hospital of Guangzhou Medical University were collected and analyzed. Diagnosis of generalized epilepsy with febrile seizures (GEFS +), partial epilepsy with febrile seizures (PEFS +), Dravet’s syndrome (DS) and autism based on internationally accepted criteria. FS + patient blood samples were collected, sequenced SCN1A gene and analyzed the results. Results: 53.8% of GEFS + and 69.2% of PEFS + patients had mental retardation, and all DS patients had mental retardation. One case of autism was found in each of the patients with GEFS + and PEFS +, and 9 cases with autism in DS (P <0.01). In FS + patients with autism, there was 1 SCN1A mutation in PEFS + and 6 in DS. CONCLUSIONS: Most GEFS + and PEFS + patients have impaired intellectual development, whereas DS has impaired intellectual development. DS with autism than the risk of GEFS + and PEFS +. There is no clear correlation between autism and SCN1A mutation.