Functional neuroimaging of high-risk 6-month-old infants predicts a diagnosis of autism at 24 months of age

Robert W. Emerson, Chloe Adams, Tomoyuki Nishino, Heather Cody Hazlett, Jason J. Wolff, Lonnie Zwaigenbaum, John N. Constantino, Mark D. Shen, Meghan R. Swanson, Jed T. Elison, Sridhar Kandala, Annette M. Estes, Kelly N. Botteron, Louis Collins, Stephen R. Dager, Alan C. Evans, Guido Gerig, Hongbin Gu, Robert C. Mckinstry, Sarah PatersonRobert T. Schultz, Martin Styner, Bradley L. Schlaggar, John R. Pruett, Joseph Piven

Research output: Contribution to journalArticlepeer-review

238 Scopus citations


Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social deficits and repetitive behaviors that typically emerge by 24 months of age. To develop effective early interventions that can potentially ameliorate the defining deficits of ASD and improve long-Term outcomes, early detection is essential. Using prospective neuroimaging of 59 6-month-old infants with a high familial risk for ASD, we show that functional connectivity magnetic resonance imaging correctly identified which individual children would receive a research clinical best-estimate diagnosis of ASD at 24months of age. Functional brain connections were defined in 6-month-old infants that correlated with 24-month scores on measures of social behavior, language, motor development, and repetitive behavior, which are all features common to the diagnosis of ASD. A fully cross-validated machine learning algorithm applied at age 6 months had a positive predictive value of 100% [95% confidence interval (CI), 62.9 to 100], correctly predicting 9 of 11 infants who received a diagnosis of ASD at 24 months (sensitivity, 81.8%; 95% CI, 47.8 to 96.8). All 48 6-month-old infants who were not diagnosed with ASD were correctly classified [specificity, 100% (95% CI, 90.8 to 100); negative predictive value, 96.0% (95% CI, 85.1 to 99.3)]. These findings have clinical implications for early risk assessment and the feasibility of developing early preventative interventions for ASD.

Original languageEnglish (US)
Article numbereaag2882
JournalScience Translational Medicine
Issue number393
StatePublished - Jun 7 2017

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© 2017, The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science.


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