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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。
Objective To investigate the effect of congenital heart malformations (CHD) on early neuropsychological development in children with 22q11.2 deletion syndrome (22q11.2DS). Methods The 22q11.2DS cases and CHD control group were evaluated with Gesell Infant Development Scale or Wechsler Intelligence Scale, and the neuropsychological characteristics of the two groups were compared. At the same time, 22q11.2DS with or without complicated development of CHD cases were grouped. Results The mean age of onset of development was 22.9 (minimum 9 months, maximum 89 months) and 22.9 months (minimum 7) in 12 children (8 males and 22 children) Month-old, maximum 74 months). There was no significant difference in gender, age, complicated CHD, surgery, and age of parents between the two groups. In the 22q11.2DS group, the mean energy users (DQs) of the five energy regions were at mild to moderate levels of backwardness, namely: large exercise DQ 63.5 ± 10.2, fine motor DQ 65.4 ± 10.7, adaptive DQ 61.7 ± 9.3, language DQ : 56.7 ± 10.1, DQ was 60.5 ± 9.7. The average DQ level in each CHD group was in the normal range. The comparison of each level showed that the 22q11.2DS group lagged behind the CHD group. There was no significant difference of DQ in each energy region between 22q11.2DS children with complex CHD (5 cases) and non-complex CHD (7 cases). Conclusion Neuropsychological development is the main clinical feature of 22q11.2DS early childhood and is not affected by the complexity of CHD and CHD.