抽动秽语综合征汉族患者的执行功能及与多巴胺D4受体第3外显子48bp可重复序列多态性

The executive function in Han Chinese children with Tourette' s syndrome and its association with the polymorphism of DRD4exonIII48bp VNTR

目的:了解多巴胺D4受体基因第3外显子48bp可重复序列多态性(DRD4 exonIII NTR)与抽动秽语综合征(Gillesdela Tourette syndrome,GTS)患者执行功能缺陷之间的关系。方法:对86例GTS患者进行威斯康星卡片测验(Modified Wisconsin Card sortingtest,WCST)、Stroop色词测验(Strooptest)和连线测验,并和51例正常对照组进行比较;利用PCR技术对GTS患者进行了DRD4exonIII48bpVNTR分析。结果:与正常对照组比较,GTS组在Stroop测验中的C错误数[(44.39±65.3)vs.(20.50±10.85),P<0.01]等(包括C纠错数、C时间、CW正确数、CW错误数、CW纠错数和CW时间)、连线测验A时间[(69.80±25.84)vs.(35.69±8.25),P<0.01](包括连线B时间、错误数、犯规数)、WCST正确数[(44.39±65.37)vs.(27.49±10.85),P<0.01](错误数、持续错误数、非持续错误数和分类数)等测验项目上成绩较差,从共病情况来看,注意缺陷多动综合征共病组在Stroop测验部分项目上比单纯GTS组要差;从GTS组内分析来看,DRD4exonIII48bpVNTR和各神经心理学测验成绩没有关联。结论:抽动秽语综合征患者存在执行功能缺陷,DRD4exonIII48bpVNTR和抽动秽语综合征执行功能缺陷之间可能没有关联。

Objective： To study the relationship of DRD4exonIII 48bp VNTR and executive function in children with Tourette＇s Syndrome. Methods： Eighty-six Han Chinese children with Gilles de la Tourette syndrome （ GTS） were tested with a set of neuropsychological test （ Stroop test, trail making test, modified Wisconsin Card sorting test） and compared with 51 healthy control group to understand the relationship between executive deficits and genetics. Results： Compared with normal children, the scores of C error of Stroop test [ （ 44. 39 ±65.3 } vs. （ 20. 50 ±10. 85 ）, P 〈0. 01 ] （ including C error correction, C time, C correct, CW error correction, CW time, CW error correction ）, the time of trail making test A [ （ 69. 80 ± 25.84 ） vs. （ 35.69±8. 25 ）, P 〈 0. 01 ] （ including the B time, wrong numbers and fouls ）, the correct number of WCST [ （ 44. 39 ± 65.37 ） vs. （ 27.49 ± 10. 85 ）, P 〈 0. 01 ] （including wrong numbers, persistent wrong numbers, no-persistent wrong numbers and classifted numbers and so on） in GTS group was worse. In some items of Stroop test, combined ADHD group differed from the GTS-alone group. No evidence showed significantly difference among DRD4exonIII48bp VNTR and executive function. Conclusion： The patients with Gilles de la Tourette syndrome have executive function deficits which may be not related to DRD4exonIII48bp VNTR.