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

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Science Translational Medicine  07 Jun 2017:
Vol. 9, Issue 393, eaag2882
DOI: 10.1126/scitranslmed.aag2882
  • Fig. 1. Correct classification of 6-month-old infants at high familial risk for ASD using functional connectivity MRI.

    Functional connections were selected as those that showed a correlation with at least one of the 24-month ASD-related behaviors, which included measures of social behavior, language, motor development, and repetitive behavior. The top two principal components of the functional connections that showed a correlation with these behaviors are shown for both ASD (blue) and non-ASD (red) 6-month-old infants. The two participants that were incorrectly classified in the leave-one-out nested cross-validation analysis are circled; these two participants were diagnosed with ASD but were classified as non-ASD. Classification was correct for 96.6% of 6-month-old high-risk infants.

  • Fig. 2. Differences in functional connectivity in ASD infants versus non-ASD infants.

    Each panel represents the functional connections that show a relationship to scores on each of the behavioral assessments (see Table 1): CSBS (top), MSEL (middle), and RBS-R (bottom). For each assessment, the functional connections associated with individual measures were combined and projected onto a Talairach brain, with the right hemisphere marked (R). The color and thickness of each connection signify the sign and strength of the t value it represents. Unpaired two-sample t tests were used to test the difference between group means (ASD versus non-ASD) for each functional connection. Red signifies a connection that shows more negative connectivity in the ASD infant group on average, whereas blue signifies more positive connectivity. t values were set to a threshold of P < 0.005 (uncorrected), and the thickness of each bar represents its strength. Coordinates for each sphere are listed in table S1. These calculations are only for visualization and should not be interpreted as differences directly contributing to any individual’s classification.

  • Table 1. Average raw scores for each of the 24-month infant assessments.

    SE is shown for both high-risk ASD and non-ASD groups. The number of participants that contributed to each measure is listed in parentheses. The details of the assessments as well as the specific items and subscales are included in Materials and Methods. Behavioral tests included the Repetitive Behaviors Scale–Revised (RBS-R), Mullen Scales of Early Learning (MSEL), and Communication and Symbolic Behavior Scales (CSBS).

    Assessmentn (ASD+/ASD)MeasureASDNon-ASD
    CSBS: social communication50 (8/42)Social interaction0.75 ± 0.32.51 ± 0.2
    CSBS: social communication50 (8/42)Joint attention1.63 ± 0.63.66 ± 0.3
    MSEL: cognitive ability57 (10/47)Expressive language18.91 ± 1.420.82 ± 0.6
    MSEL: cognitive ability58 (11/47)Fine motor24.08 ± 1.023.84 ± 0.3
    MSEL: cognitive ability53 (10/43)Gross motor24.64 ± 0.525.79 ± 0.4
    MSEL: cognitive ability57 (10/47)Visual reception20.18 ± 2.023.58 ± 0.6
    MSEL: cognitive ability58 (11/47)Receptive language24.42 ± 0.826.53 ± 0.5
    RBS-R: repetitive behavior47 (9/38)Self-injurious2.3 ± 1.00.16 ± 0.1
    RBS-R: repetitive behavior47 (9/38)Stereotyped3.4 ± 0.80.31 ± 0.1
    RBS-R: repetitive behavior47 (9/38)Sameness4.9 ± 0.90.9 ± 0.2
    RBS-R: repetitive behavior47 (9/38)Ritualistic2.2 ± 0.50.5 ± 0.1
    RBS-R: repetitive behavior47 (9/38)Compulsive3.4 ± 0.40.4 ± 0.1
    RBS-R: repetitive behavior47 (9/38)Repetitive1.8 ± 0.90.41 ± 0.1

Supplementary Materials

  • Supplementary Material for:

    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 Paterson, Robert T. Schultz, Martin Styner, IBIS Network, Bradley L. Schlaggar, John R. Pruett Jr., Joseph Piven

    *Corresponding author. Email: remerson{at}

    Published 7 June 2017, Sci. Transl. Med. 9, eaag2882 (2017)
    DOI: 10.1126/scitranslmed.aag2882

    This PDF file includes:

    • Materials and Methods
    • Fig. S1. Individual classification accuracies.
    • Fig. S2. Null distribution of classification accuracy.
    • Table S1. The Talairach coordinates for each of the ROIs.
    • Table S2. Comparison to independent high-risk sample.
    • Reference (57)

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