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; 李晨阳; 乔宠; 李静

doi:10.11852/zgetbjzz2018-1367

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

综述

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

作者信息 +

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

Author information +

文章历史 +

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。

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.

导出引用

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 https://doi.org/10.11852/zgetbjzz2018-1367

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]. Chinese Journal of Child Health Care. 2019, 27(4): 397-399 https://doi.org/10.11852/zgetbjzz2018-1367

中图分类号： R749.94

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