Document Detail


Blood-based gene expression signatures of infants and toddlers with autism.
MedLine Citation:
PMID:  22917206     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
OBJECTIVE: Autism spectrum disorders (ASDs) are highly heritable neurodevelopmental disorders that onset clinically during the first years of life. ASD risk biomarkers expressed early in life could significantly impact diagnosis and treatment, but no transcriptome-wide biomarker classifiers derived from fresh blood samples from children with autism have yet emerged.
METHOD: Using a community-based, prospective, longitudinal method, we identified 60 infants and toddlers at risk for ASDs (autistic disorder and pervasive developmental disorder), 34 at-risk for language delay, 17 at-risk for global developmental delay, and 68 typically developing comparison children. Diagnoses were confirmed via longitudinal follow-up. Each child's mRNA expression profile in peripheral blood mononuclear cells was determined by microarray.
RESULTS: Potential ASD biomarkers were discovered in one-half of the sample and used to build a classifier, with high diagnostic accuracy in the remaining half of the sample.
CONCLUSIONS: The mRNA expression abnormalities reliably observed in peripheral blood mononuclear cells, which are safely and easily assayed in infants, offer the first potential peripheral blood-based, early biomarker panel of risk for autism in infants and toddlers. Future work should verify these biomarkers and evaluate whether they may also serve as indirect indices of deviant molecular neural mechanisms in autism.
Authors:
Stephen J Glatt; Ming T Tsuang; Mary Winn; Sharon D Chandler; Melanie Collins; Linda Lopez; Melanie Weinfeld; Cindy Carter; Nicholas Schork; Karen Pierce; Eric Courchesne
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't     Date:  2012-08-02
Journal Detail:
Title:  Journal of the American Academy of Child and Adolescent Psychiatry     Volume:  51     ISSN:  1527-5418     ISO Abbreviation:  J Am Acad Child Adolesc Psychiatry     Publication Date:  2012 Sep 
Date Detail:
Created Date:  2012-08-24     Completed Date:  2013-01-16     Revised Date:  2013-09-03    
Medline Journal Info:
Nlm Unique ID:  8704565     Medline TA:  J Am Acad Child Adolesc Psychiatry     Country:  United States    
Other Details:
Languages:  eng     Pagination:  934-44.e2     Citation Subset:  IM    
Copyright Information:
Copyright © 2012 American Academy of Child and Adolescent Psychiatry. Published by Elsevier Inc. All rights reserved.
Affiliation:
Psychiatric Genetic Epidemiology and Neurobiology Laboratory, Medical Genetics Research Center, State University of New York Upstate Medical University, Syracuse, NY 13210, USA. glatts@upstate.edu
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MeSH Terms
Descriptor/Qualifier:
Child Development Disorders, Pervasive / blood,  diagnosis,  genetics*
Child, Preschool
Cross-Sectional Studies
DNA Probes / diagnostic use,  genetics
Female
Gene Expression Profiling
Genetic Markers / genetics
Genetic Predisposition to Disease / genetics
Humans
Infant
Language Development Disorders / blood,  diagnosis,  genetics
Leukocytes, Mononuclear / metabolism*
Longitudinal Studies
Male
Oligonucleotide Array Sequence Analysis
Prospective Studies
RNA, Messenger / genetics
Reference Values
Transcriptome / genetics*
Grant Support
ID/Acronym/Agency:
N01MH22005/MH/NIMH NIH HHS; P50 MH081755/MH/NIMH NIH HHS; P50MH081755/MH/NIMH NIH HHS; P50MH081755-0003/MH/NIMH NIH HHS; R01AG031224/AG/NIA NIH HHS; R01MH078151/MH/NIMH NIH HHS; R01MH080134/MH/NIMH NIH HHS; R21MH075027/MH/NIMH NIH HHS; RC2DA029475/DA/NIDA NIH HHS; U01DA024417/DA/NIDA NIH HHS; U19AG023122/AG/NIA NIH HHS; U54NS056883/NS/NINDS NIH HHS; UL1RR025774/RR/NCRR NIH HHS
Chemical
Reg. No./Substance:
0/DNA Probes; 0/Genetic Markers; 0/RNA, Messenger
Comments/Corrections

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