孤独症谱系障碍患儿常规开展遗传代谢病筛查的必要性

doi:10.11852/zgetbjzz2018-1367

中国儿童保健杂志 ›› 2019, Vol. 27 ›› Issue (4): 397-399.DOI: 10.11852/zgetbjzz2018-1367

所属专题：孤独症谱系障碍

孤独症谱系障碍患儿常规开展遗传代谢病筛查的必要性

任爽¹, 李晨阳¹, 乔宠², 李静¹

1 沈阳市妇幼保健院,辽宁沈阳 110014;
2 中国医科大学附属盛京医院妇产科 ,辽宁沈阳 110004

收稿日期:2018-09-27 修回日期:2018-10-31 发布日期:2019-04-20 出版日期:2019-04-20
通讯作者: 李晨阳,E-mail:chenyang_li@163.com;乔宠,E-mail:qiaochong2002@163.com
作者简介:任爽(1987-),女,沈阳人,主治医师,硕士研究生,主要研究方向为儿童发育行为及遗传代谢病。

Discussion on the necessity of routine screening for inborn errors of metabolism in children with autism spectrum disorder

REN Shuang¹, LI Chen-yang¹, QIAO Chong², LI Jing¹

1 Shenyang Maternity and Child Health Hospital, Shenyang, Liaoning 110014,China;
2 Department of Gynecology and Obstetrics, Shengjing Hospital of China Medical University, Shenyang, Liaoning 110004,China

Received:2018-09-27 Revised:2018-10-31 Online:2019-04-20 Published:2019-04-20
Contact: LI Chen-yang, E-mail:chenyang_li@163.com;QIAO Chong, E-mail:qiaochong2002@163.com

摘要/Abstract

摘要： 孤独症谱系障碍(ASD)是一种神经发育障碍性疾病,病因十分复杂。部分遗传代谢病(又称先天性代谢异常, IEM)患儿,同时伴有ASD或孤独样症状,对IEM的治疗能在一定程度上缓解ASD,因此IEM很可能是ASD的病因之一。本文就此讨论是否应该在ASD患儿中常规开展IEM筛查。

关键词: 孤独症谱系障碍, 遗传代谢病, 筛查, 串联质谱

Abstract: Autism spectrum disorder(ASD) is a group of neurodevelopmental disorders,and its etiology is very complicated.Some children with inborn errors of metabolism (IEM) accompanied by ASD or autistic symptoms, can relieve ASD to a certain extent by the treatment of IEM, so IEM is probably one of the causes of ASD.This review discusses whether IEM screening should be routinely carried out in ASD children.

Key words: autism spectrum disorder, inborn errors of metabolic, screening, tandem mass spectrometry

中图分类号:

R749.94

任爽, 李晨阳, 乔宠, 李静. 孤独症谱系障碍患儿常规开展遗传代谢病筛查的必要性[J]. 中国儿童保健杂志, 2019, 27(4): 397-399.

REN Shuang, LI Chen-yang, QIAO Chong, LI Jing. Discussion on the necessity of routine screening for inborn errors of metabolism in children with autism spectrum disorder[J]. journal1, 2019, 27(4): 397-399.

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孤独症谱系障碍患儿常规开展遗传代谢病筛查的必要性

Discussion on the necessity of routine screening for inborn errors of metabolism in children with autism spectrum disorder

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