中国当代儿科杂志2011，Vol.13Issue(10)：804-807,4.
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
Relationship between gene mutations and intelligence in children with Duchenne muscular dystrophy
王丽波 1麻宏伟 1王琳 1田晓博 1胡曼 1任爽 1谭迎花1
作者信息
- 1. 中国医科大学附属盛京医院发育儿科,辽宁,沈阳,110004
- 折叠
摘要
Abstract
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 ( 5s6 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 ( V1Q) , 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 exonl-29 (97.5 ±9.6) and at exon 30-4 (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.关键词
Duchenne肌营养不良/智力/基因突变/儿童Key words
Duchenne muscular dystrophy/Intelligence/Gene mutation/Child分类
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王丽波,麻宏伟,王琳,田晓博,胡曼,任爽,谭迎花..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[J].中国当代儿科杂志,2011,13(10):804-807,4.
