Duchenne肌营养不良患儿的智力及与孤独症谱系障碍的关系研究

Intelligence quotient of patients with Duchenne muscular dystrophy and its association with autism spectrum disorder

目的探讨Duchenne肌营养不良(DMD)患儿的智力水平和智力结构特点,以及与孤独症谱系障碍(ASD)关系及其所占比例。方法收集2006年1月—2010年5月诊断的DMD患儿118例(其中78例已经dystrophin基因确诊),应用修订的韦氏儿童智力量表-中国版(C-WISC)和美国精神疾病诊断统计手册(DSM-Ⅳ)结合儿童孤独症评定量表(CARS)对其进行智力及智力结构分析和孤独症谱系障碍评估。结果 118例DMD患儿中有39例进行了智力测定,其中有12例总智商(FIQ)低于70,占30.8%(12/39),轻度智力低下7例(50≤IQ<70),中、重度智力低下5例(IQ<50);DMD患儿总智商、言语智商(VIQ)、操作智商(PIQ)及其11项分测验得分中,除图形拼凑与对照组差异无统计学意义(P=0.237),其余均低于对照组(P<0.05);且言语智商低于操作智商(P<0.05)。在118例DMD患儿中有3例(2.5%)同时合并孤独症谱系障碍,CARS评分均≥30分。结论 DMD合并孤独症谱系障碍可能并不是偶然事件,DMD与孤独症谱系障碍可能存在一定联系。

Objective To investigate the level and the structural features of intelligence in patients with Duchenne muscular dystrophy（DMD）,and the association between autism spectrum disorder（ASD） and DMD,as well as the prevalence rate of ASD in DMD patients.Methods A total of 118 patients with DMD were selected from Department of Developing Pediatrics in Shengjing Hospital of China Medical University from Jan.2006 to May 2010.And 78 of them have been diagnosed by genetic determination.Intelligence quotient（IQ） and ASD were evaluated in patients with DMD by Wechsler intelligence scale for children-Chinese edition（C-WISC）,DSM-IV and Childhood Autism Rating Scale（CARS）.Results The intelligence quotient of 39 in 118 DMD patients were measured.Full IQ（FIQ） of 12 patients among them was less than 70,which accounted for 30.8%.Seven of them were mild mental retardation and five children were moderate to severe mental retardation.The IQ of DMD group was lower than control group（P〈 0.05）,including FIQ,verbal IQ（VIQ）,performance IQ（PIQ） and at 11 sub-tests exception object assembly.It was found that the VIQ was lower than PIQ in DMD group.Three children with score of CARS more than 30 were also diagnosed as ASD among 118 children with DMD.Conclusions 30.8% of the patients with DMD were of mental retardation,whose IQ of different function area is unbalanced.2.5%（3 in 118） patients with DMD also have ASD.The prevalence rate was greater than the general population in boys with autism spectrum disorder（1.6 in 1 000）,which implied that the concurrence of DMD and ASD was not accidental.There may be some linkage between DMD and autism spectrum disorder.