22q11.2缺失综合征与单纯先天性心脏畸形患儿早期神经心理发育水平比较

doi:10.11852/zgetbjzz2017-25-03-23

中国儿童保健杂志 ›› 2017, Vol. 25 ›› Issue (3): 290-292.DOI: 10.11852/zgetbjzz2017-25-03-23

22q11.2缺失综合征与单纯先天性心脏畸形患儿早期神经心理发育水平比较

姚海丽¹,燕东雍²,孙雪勤²,叶明³,孙金峤¹,王晓川¹

复旦大学附属儿科医院1 临床免疫科;
2 儿童保健科;
3 心血管外科,上海 201102

收稿日期:2016-06-07 发布日期:2017-03-15 出版日期:2017-03-15
作者简介:姚海丽(1968-),女,安徽人,副主任医师,医学硕士,主要研究方向为儿童发育与儿童免疫。

Comparison study of neuropsychological development between 22q11.2 deletion syndrome and congenital heat disease in early childhood

YAO Hai-li¹,YAN Dong-yong²,SUN Xue-qin²,YE Ming³,SUN Jin-qiao¹,WANG Xiao-chuan¹

1 Department of Clinical Immunology,2 Department of Children's Health Care,3 Department of Cardiovascular Surgery,Children's Hospital,Fudan University,Shanghai 201102,China

Received:2016-06-07 Online:2017-03-15 Published:2017-03-15

摘要/Abstract

摘要： 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。

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

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.

Key words: 22q11.2 deletion syndrome, congenital heart defects, early childhood, neuropsychological development

中图分类号:

R179

姚海丽,燕东雍,孙雪勤,叶明,孙金峤,王晓川. 22q11.2缺失综合征与单纯先天性心脏畸形患儿早期神经心理发育水平比较[J]. 中国儿童保健杂志, 2017, 25(3): 290-292.

YAO Hai-li,YAN Dong-yong,SUN Xue-qin,YE Ming,SUN Jin-qiao,WANG Xiao-chuan. Comparison study of neuropsychological development between 22q11.2 deletion syndrome and congenital heat disease in early childhood[J]. journal1, 2017, 25(3): 290-292.

参考文献

[1] Botto LD,May K,Fernhoff PM,et al.A population based study of the 22q11.2 deletion:phenotype,incidence,and contribution to major birth defects in the population[J].Pediatrics,2003,112(1):101-107.
[2] Caterina C,Pamela P,Maria CD,et al.Clinical features and follow-up in patients with 22q11.2 deletion syndrome[J].J Pediatr,2014,164(6):1475-1480.
[3] Demily C,Rossi M,Schneider M,et al.Neurocognitive and psychiatric management of the 22q11.2 deletion syndrome[J].Encephale,2015,41(3):266-273.
[4] Swillen A,McDonald-McGinn D.Developmental trajectories in 22q11.2 deletion[J].Am J Med Genet C Semin Med Genet,2015,169(2):172-181.
[5] Gur RE,Yi JJ,McDonald-McGinn DM,et al.Neurocognitive development in 22q11.2 deletion syndrome:comparison with youth having developmental delay and medical comorbidities[J].Mol Psychiatry,2014,19(11):1205-1211.
[6] 张秀玲,李寄平,秦明镜,等.Gesell 发展诊断量表3.5~6岁北京修订本的制定[J].中国临床心理学杂志,1994,2(3):148-150.
[7] Fung WL,Butcher NJ,Costain G,et al.Practical guidelines for managing adults with 22q11.2 deletion syndrome[J].Genet Med,2015,17(8):599-609.
[8] Bassett AS,McDonald-McGinn DM,Devriendt K,et al.Practical guidelines for managing patients with 22q11.2 deletion syndrome[J].J Pediatr,2011,159(2):332-339.
[9] Habel A,Herriot R,Kumararatne D,et al.Towards a safety net for management of 22q11.2 deletion syndrome:guidelines for our times[J].Eur J Pediatr,2014,173(6):757-765.
[10] Marino BS,Lipkin PH,Newburger JW,et al.Neurodevelopmental outcomes in children with congenital heart disease:evaluation and management:a scientific statement from the American Heart Association[J].Circulation,2012,126(9):1143-1172.
[11] Bellinger DC,Wypij D,Kuban KC,et al.Developmental and neurological status of children at 4 years of age after heart surgery with hypothermic circulatory arrest or low-flow cardiopulmonary bypass[J].Circulation,1999,100:526-532.
[12] Marino BS,Cassedy A,Drotar D,et al.The impact of neurodevelopmental and psychosocial outcomes on health-related quality of life in survivors of congenital heart disease[J].J Pediatr,2016,174:11-22.
[13] De Smedt B,Devriendt K,Fryns JP,et al.Intellectual abilities in a large sample of children with Velo-Cardio-Facial Syndrome:an update[J].J Intellect Disabil Res,2007,51(9):666-670.
[14] Gothelf D,Eliez S,Thompson T,et al.COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome[J].Nat Neurosci,2005,8(11),1500-1502.
[15] Shashi V,Keshavan M,Kaczorowski J,et al.Socioeconomic status and psychological function in children with chromosome 22q11.2 deletion syndrome:implications for genetic counseling[J].J Genet Couns,2010,19(5),535-544.
[16] Kobrynski LJ,Sullivan KE.Velocardiofacial syndrome,DiGeorge syndrome:the chromosome 22q11.2 deletion syndromes[J].Lancet,2007,370(9596):1443-1452.

22q11.2缺失综合征与单纯先天性心脏畸形患儿早期神经心理发育水平比较

Comparison study of neuropsychological development between 22q11.2 deletion syndrome and congenital heat disease in early childhood

PDF

可视化

摘要/Abstract

引用本文

使用本文

参考文献

相关文章 15

编辑推荐

Metrics

[1]	曹慧, 严双琴, 关宏岩. 亲子互动对儿童早期发展结局的影响[J]. 中国儿童保健杂志, 2023, 31(7): 770-774.
[2]	翁婷婷, 高国朋, 王琼瑶, 谢亮亮, 李春刚, 严双琴, 陶芳标. 不同时点过敏暴露与儿童神经心理发育队列研究[J]. 中国儿童保健杂志, 2023, 31(2): 126-130.
[3]	倪雪菲, 樊利春. 儿童早期发展养育照护体系中的回应性照护[J]. 中国儿童保健杂志, 2023, 31(1): 62-65.
[4]	郝燕, 赵瑾珠. 家长实施的儿童早期语言干预策略[J]. 中国儿童保健杂志, 2022, 30(8): 818-821.
[5]	童梅玲. 重视儿童早期发展中运动能力的发展与习惯的培养[J]. 中国儿童保健杂志, 2022, 30(6): 581-584.
[6]	唐亮, 梁晶晶, 宋燕燕. 1 042名儿童2岁时神经心理发育状况的随访研究[J]. 中国儿童保健杂志, 2022, 30(6): 599-602.
[7]	王成群, 徐海青, 汪鸿, 袁利, 周爱琴, 李明惠. 医护教家相结合养育照护促进高危早产儿发育的研究[J]. 中国儿童保健杂志, 2022, 30(6): 607-611.
[8]	关宏岩. 关注儿童早期运动促进与体质健康[J]. 中国儿童保健杂志, 2022, 30(5): 465-468.
[9]	程波利, 孙群英, 肖梦, 李星慧, 张会, 杨蓉. 贫血及小红细胞对婴幼儿体格和神经心理发育的影响[J]. 中国儿童保健杂志, 2022, 30(5): 495-499.
[10]	胡丹, 汪晓霞, 崔一帆, 刘璞, 梁倩, 肖绪武. 辅助生殖技术试管足月儿神经心理行为发育的纵向研究[J]. 中国儿童保健杂志, 2022, 30(2): 140-143.
[11]	王若思, 周锦妍, 汪艳, 张俊霞, 李丛梅, 李晶, 冯燕, 杨舒. 先天性心脏病儿童神经心理发育状况及影响因素研究[J]. 中国儿童保健杂志, 2022, 30(10): 1078-1082.
[12]	张悦. 婴幼儿养育照护中早期学习机会的概念与内涵探析[J]. 中国儿童保健杂志, 2022, 30(10): 1088-1090.
[13]	杨玉兰, 孙宾宾, 屈小莉, 江雯. 早产儿矫正24月龄内体格发育及神经心理发育随访分析[J]. 中国儿童保健杂志, 2022, 30(10): 1123-1127.
[14]	刘超, 李诚善. 0~3岁儿童心理行为发育预警征与Gesell发育评估一致性分析[J]. 中国儿童保健杂志, 2022, 30(10): 1141-1143.
[15]	陈嘉洁, 林力孜, 黄赛君, 王馨, 郭翠华, 武宁, 静进, 曹牧青. 母乳喂养与幼儿神经心理发育的关联研究[J]. 中国儿童保健杂志, 2021, 29(9): 937-941.