儿童Angelman综合征103例临床分析  

Clinical analysis of 103 children with Angelman syndrome

作　　者：沈金梅 周渊峰 杜晓南 龙莎莎 卢晓栋 张彦喆 杨丽雯 窦亚兰 严卫丽[2] 王艺 Shen Jinmei;Zhou Yuanfeng;Du Xiaonan;Long Shasha;Lu Xiaodong;Zhang Yanzhe;Yang Liwen;Dou Yalan;Yan Weili;Wang Yi(Department of Neurology, Children′s Hospital of Fudan University, Shanghai 201102, China;Department of Clinical Epidemiology, Children′s Hospital of Fudan University, Shanghai 201102, China)

机构地区：[1]复旦大学附属儿科医院神经科,上海201102 [2]复旦大学附属儿科医院临床流行病研究室,上海201102

出　　处：《中华实用儿科临床杂志》2019年第12期911-914,共4页Chinese Journal of Applied Clinical Pediatrics

摘　　要：目的探讨儿童Angelman综合征(AS)的临床表型、脑电图(EEG)特征和基因型的相关性。方法回顾性分析2017年6月至2018年6月复旦大学附属儿科医院神经科登记随访的103例AS患儿的临床、EEG、基因特征和癫痫结局的关系。结果1.AS 103例患儿中男48例(46.6%),女55例(53.4%)。2.基因型中,15q11.2-q13缺失占86.4%(89/103例),父源性单亲二倍体、印迹中心缺陷和UBE3A基因突变分别为3.9%(4/103例)、1.9%(2/103例)和7.8%(8/103例)。3.临床均表现为大笑或愉快时微笑和全面发育迟滞;98.1%(101/103例)存在运动障碍,口腔运动不协调或吸吮障碍和走路异常姿势分别为97.1%(100/103例)和67.0%(69/103例);面容异常中获得性头围偏小或小头畸形、枕骨稍平(或凹陷)和牙齿稀疏分别为61.2%(63/103例)、85.4%(88/103例)和44.7%(46/103例)。4.行为问题中喜欢玩水、睡眠问题和婴幼儿喂养困难分别为86.4%(89/103例)、89.3%(92/103例)和85.5%(88/103例);与非缺失型相比,缺失型患儿睡眠障碍[94.4%(84/89例)比57.1%(8/14例)]和婴幼儿喂养困难[93.3%(83/89例)比35.7%(5/14例)]更常见,差异均有统计学意义(均P<0.05)。5.有77.7%(80/103例)的患儿伴癫痫发作,癫痫发病年龄8个月~6岁,80.8%(59/73例)的患儿3岁前出现癫痫发作。与非缺失型相比,多种癫痫发作形式常见于缺失型[41.7%(32/68例)比0(0例)],差异有统计学意义(P<0.05);56例抗癫痫药物疗效明确的患儿,癫痫发作控制组失张力发作较癫痫发作未完全控制组常见[48.3%(14/29例)比18.5%(4/27例)],差异有统计学意义(P<0.05)。结论AS患儿的睡眠问题、婴幼儿期喂养困难和多种癫痫发作形式更常见于缺失型,相对于其他癫痫发作类型,失张力发作更易控制。Objective To investigate the correlation between clinical phenotype, electroencephalogram (EEG) characteristics and genotype in children with Angelman syndrome(AS). Methods A total of 103 children with AS at Department of Neurology, Children′s Hospital of Fudan University from June 2017 to June 2018, were included in this study.The information of clinical characteristics, EEG manifestations, genotypes as well as the epileptic outcome were collected retrospectively.The correlations between clinical phenotype, genotype, and epileptic outcome were evaluated. Results (1) Of the 103 cases, 48 were male (46.6%) and 55 were female (53.4%).(2) Genotypes on AS critical region were maternal chromosome 15q11.2-q13 [86.4%(89/103 cases)], paternal uniparental disomy [3.9%(4/103 cases)], imprinting defects [1.9%(2/103 cases)], and mutations in the maternal copy of UBE3A [7.8%(8/103 cases)].(3) Apparent happy demeanor or smile and general developmental delay were observed in all AS children.Dyskinesia accounted for 98.1%(101/103 cases), followed by oral movement or suck disorders [97.1%(100/103 cases)] and abnormal posture [67.0%(69/103 cases)]. The proportion of acquired small head circumfe-rence or microcephaly, flat occiput or occipital groove and wide-spaced teeth were 61.2%(63/103 cases), 85.4%(88/103 cases) and 44.7%(46/103 cases), respectively.(4) Behavioral problems like fascination with water, sleep problems and feeding difficulties were found in 86.4%(89/103 cases), 89.3%(92/103 cases) and 85.5%(88/103 cases) of the children, respectively.Sleep disorders [94.4%(84/89 cases) vs.57.1%(8/14 cases)] and feeding difficulties [93.3%(83/89 cases) vs.35.7%(5/14 cases)] were more frequently seen in children with maternal absence group, compared those with no absence, and the differences were statistically significant (all P<0.05).(5) Epilepsy was present in 77.7%(80/103 cases) of children with onset age varying from 8 to 72 months and 80.8%(59/73 cases) were developing seizures prior to 3 years old.Children with maternal abs

关 键 词：ANGELMAN综合征 临床表型 基因型 癫痫 

分 类 号：R741[医药卫生—神经病学与精神病学]