Jessica B Girault1, Kevin Donovan2, Zoë Hawks2, Muhamed Talovic2, Elizabeth Forsen2, Jed T Elison2, Mark D Shen2, Meghan R Swanson2, Jason J Wolff2, Sun Hyung Kim2, Tomoyuki Nishino2, Savannah Davis2, Abraham Z Snyder2, Kelly N Botteron2, Annette M Estes2, Stephen R Dager2, Heather C Hazlett2, Guido Gerig2, Robert McKinstry2, Juhi Pandey2, Robert T Schultz2, Tanya St John2, Lonnie Zwaigenbaum2, Alexandre Todorov2, Young Truong2, Martin Styner2, John R Pruett2, John N Constantino2, Joseph Piven2. 1. Carolina Institute for Developmental Disabilities (Girault, Forsen, Shen, Hazlett, Piven), Department of Psychiatry (Girault, Shen, Kim, Hazlett, Styner, Piven), Department of Biostatistics (Donovan, Truong), and ; Department of Psychological and Brain Sciences (Hawks) and Department of Psychiatry (Talovic, Nishino, Davis, Botteron, Todorov, Pruett, Constantino), Washington University School of Medicine in St. Louis; Institute of Child Development (Elison) and Department of Educational Psychology (Wolff), University of Minnesota, Minneapolis;Department of Psychology, School of Behavioral and Brain Sciences, University of Texas at Dallas, Richardson, Tex. (Swanson); Department of Radiology, Washington University in St. Louis (Snyder, McKinstry); Department of Speech and Hearing Science, University of Washington, Seattle (Estes, St. John); Department of Radiology, University of Washington Medical Center, Seattle (Dager); Tandon School of Engineering, New York University, New York (Gerig); Center for Autism Research, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia (Pandey, Schultz); Department of Pediatrics, University of Alberta, Edmonton, Canada (Zwaigenbaum). 2. Carolina Institute for Developmental Disabilities (Girault, Forsen, Shen, Hazlett, Piven), Department of Psychiatry (Girault, Shen, Kim, Hazlett, Styner, Piven), Department of Biostatistics (Donovan, Truong), and ; Department of Psychological and Brain Sciences (Hawks) and Department of Psychiatry (Talovic, Nishino, Davis, Botteron, Todorov, Pruett, Constantino), Washington University School of Medicine in St. Louis; Institute of Child Development (Elison) and Department of Psychology, School of Behavioral and Brain Sciences, University of Texas at Dallas, Richardson, Tex. (Swanson); Department of Radiology, Washington University in St. Louis (Snyder, McKinstry); Department of Speech and Hearing Science, University of Washington, Seattle (Estes, St. John); Department of Radiology, University of Washington Medical Center, Seattle (Dager); Tandon School of Engineering, New York University, New York (Gerig); Center for Autism Research, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia (Pandey, Schultz); Department of Pediatrics, University of Alberta, Edmonton, Canada (Zwaigenbaum).
Abstract
OBJECTIVE: Autism spectrum disorder (ASD) is heritable, and younger siblings of ASD probands are at higher likelihood of developing ASD themselves. Prospective MRI studies of siblings report that atypical brain development precedes ASD diagnosis, although the link between brain maturation and genetic factors is unclear. Given that familial recurrence of ASD is predicted by higher levels of ASD traits in the proband, the authors investigated associations between proband ASD traits and brain development among younger siblings. METHODS: In a sample of 384 proband-sibling pairs (89 pairs concordant for ASD), the authors examined associations between proband ASD traits and sibling brain development at 6, 12, and 24 months in key MRI phenotypes: total cerebral volume, cortical surface area, extra-axial cerebrospinal fluid, occipital cortical surface area, and splenium white matter microstructure. Results from primary analyses led the authors to implement a data-driven approach using functional connectivity MRI at 6 months. RESULTS: Greater levels of proband ASD traits were associated with larger total cerebral volume and surface area and larger surface area and reduced white matter integrity in components of the visual system in siblings who developed ASD. This aligned with weaker functional connectivity between several networks and the visual system among all siblings during infancy. CONCLUSIONS: The findings provide evidence that specific early brain MRI phenotypes of ASD reflect quantitative variation in familial ASD traits. Multimodal anatomical and functional convergence on cortical regions, fiber pathways, and functional networks involved in visual processing suggest that inherited liability has a role in shaping the prodromal development of visual circuitry in ASD.
OBJECTIVE: Autism spectrum disorder (ASD) is heritable, and younger siblings of ASD probands are at higher likelihood of developing ASD themselves. Prospective MRI studies of siblings report that atypical brain development precedes ASD diagnosis, although the link between brain maturation and genetic factors is unclear. Given that familial recurrence of ASD is predicted by higher levels of ASD traits in the proband, the authors investigated associations between proband ASD traits and brain development among younger siblings. METHODS: In a sample of 384 proband-sibling pairs (89 pairs concordant for ASD), the authors examined associations between proband ASD traits and sibling brain development at 6, 12, and 24 months in key MRI phenotypes: total cerebral volume, cortical surface area, extra-axial cerebrospinal fluid, occipital cortical surface area, and splenium white matter microstructure. Results from primary analyses led the authors to implement a data-driven approach using functional connectivity MRI at 6 months. RESULTS: Greater levels of proband ASD traits were associated with larger total cerebral volume and surface area and larger surface area and reduced white matter integrity in components of the visual system in siblings who developed ASD. This aligned with weaker functional connectivity between several networks and the visual system among all siblings during infancy. CONCLUSIONS: The findings provide evidence that specific early brain MRI phenotypes of ASD reflect quantitative variation in familial ASD traits. Multimodal anatomical and functional convergence on cortical regions, fiber pathways, and functional networks involved in visual processing suggest that inherited liability has a role in shaping the prodromal development of visual circuitry in ASD.
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