Duchenne型肌营养不良患儿认知功能特点及与Dp140表达的关系

Relationship of cognitive function with Dp140 expression in patients with Duchenne's muscular dystrophy

目的了解Duchenne型肌营养不良(DMD)患儿智力水平、特点及与Dp140表达的关系。方法选取2014年10月-2017年12月在武警总医院DMD多学科联合门诊就诊的DMD患儿122例。采用韦氏儿童智力量表第Ⅳ版(WISC-Ⅳ)分析所有患儿的总智力(FSIQ),言语智力(VIQ),操作智力(PIQ)水平及特点,并与正常儿童和国外研究文献进行对比;将本组患儿的智力水平与年龄、疾病严重程度进行相关性分析。根据患儿基因型分析将患儿分为Dp140(+)组及Dp140(–)组,比较两组患儿智力水平的差异。结果本组DMD患儿FSIQ(93.34±16.31)分,VIQ(91.52±15.97)分,PIQ(96.70±17.37)分,得分明显低于正常儿童(100分,P<0.01),但明显高于国外DMD患儿[FSIQ(80.2±19.3)分、VIQ(80.4±18.8)分、PIQ(85.4±16.9)分,P<0.01]。Dp140(+)组患儿FSIQ、VIQ、PIQ得分分别为(96.71±16.52)分,(95.09±14.97)分,(98.96±18.13)分;而Dp140(–)组患儿FSIQ、VIQ、PIQ得分分别为(85.30±15.20)分,(83.65±16.30)分,(89.22±15.48)分,两组比较差异有统计学意义(P<0.01)。结论本组DMD患儿合并智力受损的比例明显低于国外水平,言语智力比操作智力受损更严重;Dp140(+)表达患儿智力高于Dp140(–)表达患儿。

Objective To investigate the cognitive condition and intelligence level of child with Duchenne’s muscular dystrophy(DMD), and explore the relationship between DMD and Dp140 expression. Methods One hundred and twenty-two DMD children, who visited the DMD Multidisciplinary Outpatient Clinic in the General Hospital of Chinese People’s Armed Police Force from Oct. 2014 to Dec. 2017 were tested with Wechsler Intelligence Scale for Children Ⅳ(WISC-Ⅳ). The verbal intelligence quotient(VIQ), performance intelligence quotient(PIQ) and full-scale intelligence quotient(FSIQ) scores were analyzed and compared with normal children and foreign study results. We also conduct correlation analysis between intelligence level and age/disease severity of patients in this group. Patients were also divided into Dp140(+) group and Dp140(-) group according to the genotype analysis, and the differences in intelligence level were analyzed between the two groups. Results The FSIQ, VIQ and PIQ scores in Chinese DMD children were 93.34±16.31, 91.52±15.97 and 96.70±17.37, respectively, obviously lower than that in normal children(100, P<0.01), but higher than the DMD children from other countries [FSIQ(80.2±19.3), VIQ(80.4±18.8) and PIQ(85.4±16.9), P<0.01]. The FSIQ, VIQ and PIQ in patients of Dp140(+) sub-group were 96.71±16.52, 95.09±14.97 and 98.96±18.13, much higher than that of Dp140(-) sub-group(85.30±15.20, 83.65±16.30 and 89.22±15.48) with statistically significant difference(P<0.01). Conclusions The ratio of intellectual impairment in present group of DMD children is lower than that of foreign DMD children, and VIQ is more severely damaged than PIQ. DMD patients with Dp140 expression have higher WISC-Ⅳ score than those without Dp140 expression.