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Sci Transl Med. 2017 Jun 7;9(393). pii: eaag2882. doi: 10.1126/scitranslmed.aag2882.

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

Author information

1
Carolina Institute for Developmental Disabilities, University of North Carolina at Chapel Hill, Chapel Hill, NC 27510, USA. remerson@med.unc.edu.
2
Department of Psychiatry, Washington University School of Medicine, St. Louis, MO 63110, USA.
3
Carolina Institute for Developmental Disabilities, University of North Carolina at Chapel Hill, Chapel Hill, NC 27510, USA.
4
Department of Psychiatry, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, USA.
5
Department of Educational Psychology, University of Minnesota, Minneapolis, MN 55455, USA.
6
Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada.
7
Institute of Child Development, University of Minnesota, Minneapolis, MN 55455, USA.
8
Department of Speech and Hearing Sciences, University of Washington, Seattle, WA 98105, USA.
9
Mallinckrodt Institute of Radiology, Washington University, Washington University School of Medicine, St. Louis, MO 63110, USA.
10
Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.
11
Center on Human Development and Disability, University of Washington, Seattle, WA 98105, USA.
12
Department of Radiology, University of Washington, Seattle, WA 98105, USA.
13
Tandon School of Engineering, New York University, Brooklyn, NY 11201, USA.
14
Center for Autism Research, Department of Pediatrics, Children's Hospital of Philadelphia, and University of Pennsylvania, Philadelphia, PA 19104, USA.
15
Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA.

Abstract

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 24 months 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.

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