95例孤独症儿童血串联质谱检测的分析报告

doi:10.11852/zgetbjzz2015-23-09-06

中国儿童保健杂志 ›› 2015, Vol. 23 ›› Issue (9): 913-915.DOI: 10.11852/zgetbjzz2015-23-09-06

95例孤独症儿童血串联质谱检测的分析报告

董萍,陆炜,徐琼,徐秀

复旦大学附属儿科医院儿童保健科,上海 201102

收稿日期:2014-11-11 发布日期:2015-09-10 出版日期:2015-09-10
通讯作者: 徐秀,E-mail:xixiu@shmu.edu.cn
作者简介:董萍(1981-),女,江苏人,主治医师,博士学历,主要研究方向为儿童营养与发育。

Analysis report of the application of tandem mass spectrometry in 95 children with autism spectrum disorder

DONG Ping,LU Wei,XU Qiong,XU Xiu

Department of Children's Health Care,Children's Hospital of Fudan University,Shanghai 201102,China

Received:2014-11-11 Online:2015-09-10 Published:2015-09-10
Contact: XU Xiu,E-mail:xuxiu@shmu.edu.cn

摘要/Abstract

摘要： 目的应用串联质谱(tandem mass spectrometry,MS /MS)技术进行孤独症谱系障碍(autism spectrum disorder,ASD)儿童的遗传代谢病(inborn errors of metabolism,IEM) 筛查,了解ASD患儿的高发IEM病种,并探讨IEM与儿童ASD之间的关系。方法利用MS/MS技术对2010年11月-2013年12月于复旦大学附属儿科医院儿童保健科门诊就诊、根据DSM-Ⅳ诊断标准确诊的95名ASD患儿的血液样本进行IEM筛查。结果 1名(1.95%)患儿存在苯丙酮尿症,1名(1.95%)患儿戊二酸血症-II型不能除外,其他患儿(96.1%)均不存在本研究所涉及的IEM。结论本研究为晚诊断的苯丙酮尿症与ASD之间的关联提供了案例支持,苯丙酮尿症可能是儿童ASD的共患病之一;戊二酸血症-II型与ASD之间可能存在一定联系。对于IEM高危患儿、特别是生后未行新生儿筛查的ASD患儿,及时地进行IEM筛查对于全面诊断和治疗ASD有着重要意义。

关键词: 孤独症谱系障碍, 遗传代谢病, 串联质谱技术, 儿童

Abstract: Objective To study the application of tandem mass spectrometry (MS /MS) in the screening of inborn errors of metabolism (IEM) in children with autism spectrum disorder (ASD),to understand the positive rate of IEM and the relationship between ASD and IEM. Methods MS/MS was used to examine 95 blood samples from children diagnosed as ASD with DSM-Ⅳ from Department of Children's Health Care of our hospital from November 2010 to December 2013. Result Only 1 case (1.95%) was diagnosed as with phenylketonuria,1 cases (1.95%) was suspected of suffering from glutaric aciduria type II,other children (96.1%) did not have IEM which was referred to in this study. Conclusions The study supports the relationship between late diagnosed phenylketonuria and ASD,phenylketonuria may be one of the most common IEM associated with autism;There might be certain associations between glutaric aciduria type II and ASD.In children with high risk of IEM,especially those who do not undergo neonatal screening,screening of IEM timely will be of great significance for the overall diagnosis and treatment of ASD.

Key words: autism spectrum disorder, inborn errors of metabolism, tandem mass spectrometry, children

中图分类号:

R749.94

董萍,陆炜,徐琼,徐秀. 95例孤独症儿童血串联质谱检测的分析报告[J]. 中国儿童保健杂志, 2015, 23(9): 913-915.

DONG Ping,LU Wei,XU Qiong,XU Xiu. Analysis report of the application of tandem mass spectrometry in 95 children with autism spectrum disorder[J]. journal1, 2015, 23(9): 913-915.

参考文献

[1] Abrahams BS,Geschwind DH.Advances in autism genetics:on the threshold of a new neurobiology[J].Nat Rev Genet,2008,9(5):341-355.
[2] Rutter M,Bailey A,Bolton P,et al.Autism and known medical conditions:myth and substance[J].J Child Psychol Psychiatry,1994,35(2):311-322.
[3] Pampols T.Inherited metabolic rare disease[J].Adv Exp Med Biol,2010,686(3):397-431.
[4] Ververi A,Vargiami E,Papadopoulou V,et al.Clinical and laboratory data in a sample of Greek children with autism spectrum disorders[J].J Autism Dev Disord,2012,42(7):1470-1476.
[5] Dykens EM,Volkmar FR.Medical conditions associated with autism.In:Cohen DJ,Volkmar FR,eds.Handbook of Autism and Pervasive Developmental Disorders [M].New York:Wiley,1997.
[6] Zecavati N,Spence SJ.Neurometabolic disorders and dysfunction in autism spectrum disorders[J].Curr Neurol Neurosci Rep,2009,9(2):129-136.
[7] 顾学范,韩连书,高晓岚,等.串联质谱技术在遗传性代谢病高危儿童筛查中的初步应用[J].中华儿科杂志,2004,42(6):401-404.
[8] Schulze A,Lindner M,Kohlmüller D,et al.Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry:results,outcome,and implications[J].Pediatrics,2003,111(6 Pt 1):1399-1406.
[9] Frazier DM,Millington DS,McCandless SE,et al.The tandem mass spectrometry newborn screening experience in North Carolina:1997-2005[J].J Inherit Metab Dis,2006,29(1):76-85.
[10] Steiner CE,Acosta AX,Guerreiro MM,et al.Genotype and natural history in unrelated individuals with phenylketonuria and autistic behavior[J].Arq Neuropsiquiatr,2007,65(2A):202-205.
[11] Balieli S,Pavone L,Meli C,et al.Autism and phenylketonuria[J].J Autism Dev Disorders,2003,33(2):201-204.
[12] Reiss AL,Feinstein C,Rosenbaum KN.Autism and genetic disorders[J].Schizophr Bull,1986,12(4):724-738.
[13] Gillberg C,Coleman M.The Biology of the Autistic Syndromes[M].3^rd ed,London:McKeith Press,2000.
[14] Scheicht D,Werthmann ML,Zeglam S,et al.Muscle weakness and early stages of liver failure in a 22-year-old man[J].Internist (Berl),2013,54(8):1016-1122.

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95例孤独症儿童血串联质谱检测的分析报告

Analysis report of the application of tandem mass spectrometry in 95 children with autism spectrum disorder

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