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

DONG Ping; LU Wei; XU Qiong; XU Xiu

doi:10.11852/zgetbjzz2015-23-09-06

PDF(472 KB)

Chinese Journal of Child Health Care ›› 2015, Vol. 23 ›› Issue (9) : 913-915. DOI: 10.11852/zgetbjzz2015-23-09-06

original articles

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

DONG Ping,LU Wei,XU Qiong,XU Xiu

Author information +

History +

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

Cite this article

EndNote

Ris (Procite)

Bibtex

Download Citations

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]. Chinese Journal of Child Health Care. 2015, 23(9): 913-915 https://doi.org/10.11852/zgetbjzz2015-23-09-06

References

[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.