目的 了解先天性心脏畸形(CHD)对22q11.2缺失综合征(22q11.2DS)儿童早期神经心理发育影响。方法 采用Gesell婴幼儿发育量表或韦氏智能量表对22q11.2DS病例及单纯CHD对照组患儿进行评估,分析比较两组患儿神经心理发育特征。同时对22q11.2DS合并或不合并复杂CHD病例发育水平进行分组比较。结果 12例(男8例)22q11.2DS与18例(男9例)单纯CHD患儿,发育评估的平均年龄分别为32.9月(最小9月龄,最大89月龄)和22.9月(最小7月龄,最大74月),两组性别、年龄、复杂CHD比例、是否曾接受手术以及父母年龄差异均无统计学意义。22q11.2DS组五个能区平均发育商(DQ)处于轻中度落后水平,分别为:大运动DQ:63.5±10.2,精细动作DQ:65.4±10.7,适应性DQ:61.7±9.3,语言DQ:56.7±10.1,个人社交能力DQ:60.5±9.7;单纯CHD组患儿各能区DQ平均水平处于正常范围;两组各能区水平比较显示22q11.2DS组明显落后于单纯CHD组。22q11.2DS患儿中合并复杂CHD患儿(5例)与非复杂CHD患儿(7例)各能区DQ差异无统计学意义。结论 神经心理发育落后是22q11.2DS儿童早期的主要临床特征,且不受CHD及CHD复杂程度影响。
Abstract
Objective To study the effect of congenital heart defects (CHD) on the neuropsychological development of 22q11.2 deletion syndrome (22q11.2DS) in early childhood. Methods Neuropsychological development was evaluated at early childhood using Chinese version of Gesell developmental scales,WPPI-I or WISC-I according to their age.Development quotients (DQ) of each area between two groups were analyzed by independent-sample T-test.The difference of DQ between 22q11.2DS with and without complex CHD was also analyzed. Results The mean age of evaluation of 22q11.2DS group (12 cases,8 male) and CHD-only group (18 cases,9 male) was 32.9 months (from 9 to 89 months) and 22.9 months (from 7 to 74 months) respectively.The mean DQ of gross motor performance,fine motor movement,adaptive behavior,language development and individual social behaviors were mild to moderate disability in 22q11.2DS group,which were 63.5±10.2,65.4±10.7,61.7±9.3,56.7±10.1,60.5±9.7 respectively.The mean DQ of each area of CHD-only group was normal and was higher than that of the 22q11.2DS group significantly.The mean DQ of 5 areas was similar without significant difference statistically comparing between 22q11.2DS with and without complex CHD. Conclusion Neuropsychological development delay is one of the main clinical features of 22q11.2DS in early childhood and could not be affected by CHD and the complexity of CHD.
关键词
22q11.2缺失综合征 /
先天性心脏畸形 /
儿童早期 /
神经心理发育
Key words
22q11.2 deletion syndrome /
congenital heart defects /
early childhood /
neuropsychological development
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