1329例精神发育迟滞/迟缓患儿临床分析与病因研究  

Etiology and clinical features of 1 329 mentally retarded/developmentally delayed children

作　　者：王珺[1] 王立文[1] 

机构地区：[1]首都儿科研究所附属儿童医院神经科,北京100020

出　　处：《临床儿科杂志》2010年第5期450-454,共5页Journal of Clinical Pediatrics

基　　金：首都医学发展科研基金(No.20073085)

摘　　要：目的了解精神发育迟滞/迟缓(MR/DD)患儿的病因谱构成比,规范精神发育迟滞/迟缓特殊检测适应症。方法对2003年1月—2006年12月在神经内科就诊的1 329例精神发育迟滞/迟缓患儿的临床资料进行回顾性分析,包括体征、伴随症状、精神发育迟滞/迟缓的分级以及病因等。结果精神发育迟滞/迟缓分级在<6岁组和>6岁组间及确诊病因组和病因不明组间差异有统计学意义。主要病因包括围产期因素186例(14.00%)、染色体病150例(11.29%)、遗传代谢性疾病111例(8.35%)等,另有病因尚不明确者710例(53.42%)。遗传代谢性疾病多有相似症状,畸形为染色体病的主要症状。结论重度精神发育迟滞/迟缓多见于<6岁和确诊病因者。MR/DD病因谱中以染色体病、遗传代谢性疾病及已知综合征在可知病因中占有较高比例。伴有2种以上畸形的MR/DD患儿首先行染色体检查;非面容畸形的MR/DD者合并惊厥、肌张力异常、尿味异常、发作性昏迷、行为异常、肝脏肿大可先行代谢病筛查。group （ P = 0.049） . The depression score in leukemia children was higher than that of control group, but have no significant difference （P = 0.054）. There are significant difference in subscale of behavior, anxiety and the total scale among the three groups （ P valve was 0.002, 0.010, 0.006 and 0.011, respectively） . Leukemia children scored significantly higher on subscale of behavior, anxiety and the total scale than control group （P valve was 0.026 and 0.039, respectively） . Among which, newly diagnosed group scored significantly higher on subscale of behavior, intellegence, anxiety and the total scale than control group （P valve was 0.000, 0.007, 0.010 and 0.009, respectively） . The self- concept scores between long survival group and control group have no significant difference （P〈0.05）. The extraversion score of EPQ in long survival group was lower than that in both newly diagnosed group and control group （the extraversion score ≤ 38.5 was 30%, 23.33% and 12%, respectively, P〈0.05）, whereas the other three dimensions （P, N, L） of EPQ test showed no difference between three groups. Conclusions Our studies have indicated that leukemia children are at risk for psychological difficulties. Implementation and evaluation of psychological supportive interventions should be considered. Abstract： Objective To explore the etiological spectrum of mental retardation （MR）/development delay （DD） and standardize the examination method for identification. Methods The clinical data of 1 329 children with clinical diagnosis of MR/DD from January 2003 to December 2006 was retrospectively analyzed, including signs, concomitant symptoms, classification, and etiology. Results Significant difference of MR/DD classification was found between patients younger and older than 6 years old. There was a significant difference of MR/DD classification between patients with causes known and unknown. Main etiology spectrum of MR/DD children were as follows： 186 cases with perinatal causes �

关 键 词：精神发育迟滞/迟缓 儿童 病因谱 遗传代谢性疾病. 

分 类 号：R749.94[医药卫生—神经病学与精神病学]