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

摘要:

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。

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 (≥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.