实用医学杂志
實用醫學雜誌
실용의학잡지
THE JOURNAL OF PRACTICAL MEDICINE
2014年
5期
729-731
,共3页
张美品%孟珩%何娜%高曲文%秦兵%陈勇军%石奕武%陈亮%易咏红%廖卫平%黎冰梅
張美品%孟珩%何娜%高麯文%秦兵%陳勇軍%石奕武%陳亮%易詠紅%廖衛平%黎冰梅
장미품%맹형%하나%고곡문%진병%진용군%석혁무%진량%역영홍%료위평%려빙매
癫痫%孤独症%热性惊厥附加症%精神运动发育迟滞%SCN1A
癲癇%孤獨癥%熱性驚厥附加癥%精神運動髮育遲滯%SCN1A
전간%고독증%열성량궐부가증%정신운동발육지체%SCN1A
Epilepsy%Autism%Febrile seizures plus%Mental retardation%SCN1A
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。
目的：探討孤獨癥在熱性驚厥附加癥（FS＋）中的臨床特徵及與SCN1A突變的相互關繫。方法：收集併分析在廣州醫科大學附屬第二醫院癲癇中心就診的103例FS＋患者的臨床資料。根據國際上認可的標準診斷全麵性癲癇伴熱性驚厥附加癥（GEFS＋）、部分性癲癇伴熱性驚厥附加癥（PEFS＋）、Dravet綜閤徵（DS）和孤獨癥。收集FS＋患者血樣，測序SCN1A基因併分析結果。結果：53．8％的GEFS＋和69．2％的PEFS＋患者有智力髮育障礙，所有的DS患者均存在智力障礙。 GEFS＋和PEFS＋患者中各有1例孤獨癥，DS患者有9例孤獨癥（P＜0．01）。FS＋伴孤獨癥的患者中，PEFS＋中有1例SCN1A突變，而DS則有6例。結論：大部分GEFS＋和PEFS＋患者存在智力髮育障礙，而DS均有智力髮育障礙。DS伴孤獨癥的幾率高于GEFS＋和PEFS＋。孤獨癥與SCN1A突變沒有明確相關性。
목적：탐토고독증재열성량궐부가증（FS＋）중적림상특정급여SCN1A돌변적상호관계。방법：수집병분석재엄주의과대학부속제이의원전간중심취진적103례FS＋환자적림상자료。근거국제상인가적표준진단전면성전간반열성량궐부가증（GEFS＋）、부분성전간반열성량궐부가증（PEFS＋）、Dravet종합정（DS）화고독증。수집FS＋환자혈양，측서SCN1A기인병분석결과。결과：53．8％적GEFS＋화69．2％적PEFS＋환자유지력발육장애，소유적DS환자균존재지력장애。 GEFS＋화PEFS＋환자중각유1례고독증，DS환자유9례고독증（P＜0．01）。FS＋반고독증적환자중，PEFS＋중유1례SCN1A돌변，이DS칙유6례。결론：대부분GEFS＋화PEFS＋환자존재지력발육장애，이DS균유지력발육장애。DS반고독증적궤솔고우GEFS＋화PEFS＋。고독증여SCN1A돌변몰유명학상관성。
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.
