| 孤独症谱系障碍患儿常规开展遗传代谢病筛查的必要性 |
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| 引用本文： | 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. DOI: 10.11852/zgetbjzz2018-1367 |
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| 作者姓名： | 任爽 李晨阳 乔宠 李静 |
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| 作者单位： | 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 |
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| 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。
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| 关 键 词： | 孤独症谱系障碍 遗传代谢病 筛查 串联质谱 |
| 收稿时间： | 2018-09-27 |
| 修稿时间： | 2018-10-31 |
Discussion on the necessity of routine screening for inborn errors of metabolism in children with autism spectrum disorder |
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| 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. DOI: 10.11852/zgetbjzz2018-1367 |
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| Authors: | REN Shuang LI Chen-yang QIAO Chong LI Jing |
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| Affiliation: | 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 |
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| 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. |
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| Keywords: | autism spectrum disorder inborn errors of metabolic screening tandem mass spectrometry |
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