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The power and promise of identifying autism early: Insights from the search for clinical and biological markers

Karen Pierce, PhD

Department of Neurosciences, University of California, San Diego, San Diego, CA, USA

Stephen J. Glatt, PhD

Department of Psychiatry and Behavioral Sciences, Medical Genetics Research Center, SUNY Upstate Medical University, Syracuse, NY, USA

Gregory S. Liptak, MD, MPH

Department of Pediatrics, SUNY Upstate Medical University, Syracuse, NY, USA

Laura Lee McIntyre, PhD, BCBA

Department of Psychology, Syracuse University, Syracuse, NY, USA

BACKGROUND: The biological changes that lead to autism likely occur during prenatal life. Although earlier identification of the disorder has occurred within the past decade, the mean age of diagnosis is still not made before a mean age of 3 years. This is because autism remains a behaviorally defined disorder, placing limits on the age at which a confident diagnosis can be made. The study of the biological basis of autism prior to age 3 is essential and can most directly be achieved with prospective research designs.

METHODS: The literature on the early identification of autism is discussed, including the timescale for the onset of social symptoms. Also discussed is a new method for the prospective study of autism called the “1-Year Well-Baby Check-Up Approach,” which allows for the prospective study of the disorder in simplex families with infants as young as 12 months of age.

RESULTS: Although likely present at subtle, subclinical levels, early social abnormalities are not clearly detectable prior to 12 months in age in infants later diagnosed as having autism spectrum disorder.

CONCLUSIONS: Using the 1-Year Well-Baby Check-Up Approach or other prospective design, examining early biomarkers related to early brain overgrowth, cerebellar development, gene expression patterns and immune system function may be key to early diagnosis efforts under 3 years. We also note the importance of comparing and contrasting the early “signature” of autism in children from singleton versus multiplex families, which may be etiologically distinct.

KEYWORDS: autism, early identification, biomarkers, screening, brain overgrowth, gene expression


CORRESPONDENCE: Karen Pierce, PhD, Department of Neurosciences, University of California, San Diego, 8110 La Jolla Shores Drive, La Jolla, CA 92037 USA E-MAIL: kpierce@ucsd.edu
Annals of Clinical Psychiatry ©2009 American Academy of Clinical Psychiatrists

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