Duchenne肌营养不良患儿的智力特点及与基因突变关系初步探讨

目的：了解国内Duchenne肌营养不良（DMD）患儿智力水平及智力低下的比例，初步探讨DMD患儿智力的结构特点及与基因突变类型的关系。方法：选择2009年1月至2011年3月的102例DMD患儿，其中84例患儿通过多重连接依赖式探针扩增（MLPA）方法进行DMD基因检测。102例DMD患儿中,选择≥6岁的50例DMD患儿作为DMD组；另选取50例年龄、性别与DMD组匹配的健康体检儿童作为对照组。采用韦氏智力量表对两组儿童进行智力及智力结构分析。结果：102例DMD患儿的平均智商为84±21，其中30例（29.4%）总智商低于70。DMD组患儿总智商、言语智商、操作智商及其11项分测验得分均显著低于对照组（P<0.01）。其中DMD基因56-79号外显子突变患儿的智商最低(59.3±11.9)，另外，45-55号外显子突变患儿的智商(88.6±1.9) 明显低于1-29号(97.5±9.6)和30-44号(102.8±3.8)外显子突变的患儿（P<0.01）。结论：DMD患儿的总智商、言语智商、操作智商均显著低于正常儿童。DMD患儿智力低下与基因突变存在联系。

Relationship between gene mutations and intelligence in children with Duchenne muscular dystrophy

Objective To study the level of intelligence in children with Duchenne muscular dystrophy(DMD),and the relationship between the level of intelligence and gene mutations.Methods One hundred and two children with DMD between January 2009 and March 2011 were enrolled.DMD gene detection was performed through the multiplex ligation-dependent probe amplification(MLPA) in 84 cases.The level and the structure of intelligence were evaluated by Chinese Wechsler Intelligence Scale for Children(C-WISC) in 50 children with DMD(≥6 years old;DMD group) and in 50 age-and gender-matched healthy children(control group).Results The average intelligence quotient(IQ) was 84±21 in 102 children with DMD.Thirty patients(29.4%) had the full intelligence quotient(FIQ) less than 70.The FIQ,verbal intelligence quotient(VIQ),performance intelligence quotient(PIQ) and the scores of 11 sub-tests of intelligence in the DMD group were significantly lower than those in the control group(P<0.01).The IQ in patients with gene mutations at exon 56-79 was the lowest(59.3±11.9),followed by in patients with gene mutations at exon 45-55(88.6±1.9),at exon 1-29(97.5±9.6) and at exon 30-44(102.8±3.8)(P<0.01).Conclusions The FIQ,VIQ and PIQ in children with DMD are lower than those in healthy children.There is association between mental retardation and gene mutations.