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J Am Acad Child Adolesc Psychiatry. 2012 Sep;51(9):934-44.e2. doi: 10.1016/j.jaac.2012.07.007. Epub 2012 Aug 2.

Blood-based gene expression signatures of infants and toddlers with autism.

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Dr. Glatt is with the Psychiatric Genetic Epidemiology and Neurobiology Laboratory (PsychGENe Lab), Medical Genetics Research Center, State University of New York (SUNY) Upstate Medical University. Dr. Tsuang is with Harvard Institute of Psychiatric Epidemiology and Genetics, Harvard School of Public Health, and Harvard Medical School; the Center for Behavioral Genomics, University of California-San Diego (UCSD); Veterans Affairs San Diego Healthcare System; and the Institute of Genomic Medicine, UCSD. Dr. Winn is with UCSD and the Scripps Translational Science Institute. Drs. Chandler and Collins are with the Center for Behavioral Genomics, UCSD. Drs. Lopez, Weinfeld, Carter, Pierce, and Courchesne are with the Autism Center of Excellences, UCSD. Dr. Schork is with the Scripps Translational Science Institute.
Contributed equally



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.


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.


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.


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.

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