journal1 ›› 2019, Vol. 27 ›› Issue (4): 397-399.DOI: 10.11852/zgetbjzz2018-1367

Special Issue: 孤独症谱系障碍

• Orginal Article • Previous Articles     Next Articles

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. 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,;QIAO Chong,


任爽1, 李晨阳1, 乔宠2, 李静1   

  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
  • 通讯作者: 李晨阳,;乔宠,
  • 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。

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

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

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