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

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TitleFunctional neuroimaging of high-risk 6-month-old infants predicts a diagnosis of autism at 24 months of age.
Publication TypeJournal Article
Year of Publication2017
AuthorsEmerson, RW, Adams, C, Nishino, T, Hazlett, HCody, Wolff, JJ, Zwaigenbaum, L, Constantino, JN, Shen, MD, Swanson, MR, Elison, JT, Kandala, S, Estes, AM, Botteron, KN, Collins, L, Dager, SR, Evans, AC, Gerig, G, Gu, H, Mckinstry, RC, Paterson, S, Schultz, RT, Styner, M, Schlaggar, BL, Pruett, JR, Piven, J
Corporate AuthorsIBIS Network
JournalSci Transl Med
Date Published2017 06 07
KeywordsAutistic Disorder, Behavior, Child, Preschool, Female, Functional Neuroimaging, Humans, Infant, Magnetic Resonance Imaging, Male, Nerve Net, Risk Factors

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.

Alternate JournalSci Transl Med
PubMed ID28592562
PubMed Central IDPMC5819345
Grant ListR01 MH093510 / MH / NIMH NIH HHS / United States
U54 HD087011 / HD / NICHD NIH HHS / United States
T32 HD040127 / HD / NICHD NIH HHS / United States
U54 HD086984 / HD / NICHD NIH HHS / United States
R01 HD055741 / HD / NICHD NIH HHS / United States