儿童先天性心脏病伴神经发育障碍的临床表现及遗传学研究进展

Q4 Medicine

中华实用儿科临床杂志 Pub Date : 2020-03-30 DOI:10.3760/CMA.J.CN101070-20190219-00115

Chang Dong, Yu-ming Qin, Shiwei Yang

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引用次数: 0

摘要

最近的研究发现，患有先天性心脏病（CHD）的儿童患神经发育障碍（NDD）的风险增加，包括认知、适应性、运动、言语和自闭症谱系障碍。结构和功能神经成像表明，CHD儿童的大脑异常可能是由子宫内发育损伤引起的。特定的遗传异常，特别是拷贝数变异（CNVs），越来越多地与CHD和NDD有关。参与载脂蛋白E产生、Wnt信号通路和组蛋白修饰的基因的变异，以及1q21.1、16p13.1-11和8p23.1基因座的变异，了解这些关联对于CHD患者的风险分层、疾病分类、改善筛查和药物管理非常重要。关键词：先天性心脏病；神经发育障碍；临床表现；遗传学

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Clinical manifestations and genetics research progress of congenital heart disease with neurodevelopmental disorders in children

Recent studies have found that children with congenital heart disease (CHD) are at increased risk of neurodevelopmental disorders (NDDs), including cognitive, adaptive, motor, speech and autism spectrum disorders.Structural and functional neuroimaging has indicated that brain abnormalities in children with CHD might be caused by an in utero developmental insult.Specific genetic abnormalities, particularly copy number variants(CNVs), have been increasingly implicated in both CHD and NDDs.Variations in genes involved in apolipoprotein E production, the Wnt signaling pathway, and histone modification, as well as in the 1q21.1, 16p13.1-11 and 8p23.1 genetic loci, are associated with CHD and NDDs.Understanding these associations is important for risk stratification, disease classification, improving screening and pharmacologic management of individuals with CHD. Key words: Congenital heart disease; Neurodevelopmental disorders; Clinical manifestation; Genetics

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来源期刊

中华实用儿科临床杂志 Medicine-Pediatrics, Perinatology and Child Health

CiteScore

0.60

自引率

0.00%

发文量

14243

期刊介绍： Chinese Journal of Applied Clinical Pediatrics ( semi-monthly ) is a core journal of paediatrics under the supervision of China Association for Science and Technology, sponsored by Chinese Medical Association and undertaken by Xinxiang Medical College. Founded in 1986, it is openly circulated both at home and abroad. The journal has several columns, such as Expert Forum, Experimental Research and Paediatric Surgery, which are mainly for paediatric medical workers and medical researchers in hospitals. Its purpose is to reflect the new theories and technologies in paediatric medicine and scientific research at home and abroad, and to promote academic exchanges. Chinese Journal of Applied Clinical Pediatrics is a source journal of China Science Citation Database (CSCD), a core journal of Peking University, a source journal of Chinese science and technology paper statistics (China Science and Technology Core Journals), a core academic journal of RCCSE, a high-quality scientific and technical journal of China, a high-quality scientific and technical journal of China Association for Science and Technology, and a high-quality scientific and technical journal of China Biomedical Science and Technology Association. We have been published in China Biomedical Literature Database (SinoMed), China Knowledge Network, Wanfang Data Knowledge Service Platform, China Academic Journal Abstracts, Scopus Database, Chemical Abstracts (USA), Japan Science and Technology Agency (JSTA) Database, Copernicus Abstracts (Poland), Abstracts of the Centre for Agricultural and Biological Sciences (CABS) of the United Kingdom, Cambridge Scientific Abstracts ProQuest Database, WHO Medical Journal of the Western Pacific Region (WMPR), and WHO Medical Journal of the Western Pacific Region (WMPR) of the United States. We have been included in dozens of authoritative databases at home and abroad, such as WHO Western Pacific Region Index of Medicine (WPRIM), Ullrich's Guide to Periodicals, and so on.