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Updated: Sep 29, 2025

Probing the Brain in Autism Using fMRI and Diffusion Tensor Imaging
Published on: September 12, 2011
Subcortical Brain Development in Autism and Fragile X Syndrome: Evidence for Dynamic, Age- and Disorder-Specific
Mark D Shen1, Meghan R Swanson1, Jason J Wolff1
1Carolina Institute for Developmental Disabilities and Department of Psychiatry (Shen, Girault, Kim, Smith, Graves, Weisenfeld, Gross, Styner, Hazlett, Piven) and UNC Neuroscience Center (Shen), University of North Carolina at Chapel Hill School of Medicine, Chapel Hill; Department of Educational Psychology (Wolff), Institute of Child Development (Elison), and Department of Pediatrics (Elison, Burrows), University of Minnesota, Minneapolis; Mallinckrodt Institute of Radiology, Washington University School of Medicine, St. Louis (Flake, McKinstry, Botteron); Department of Radiology, University of Washington Medical Center, Seattle (Dager); Center for Autism Research, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia (Pandey, Schultz); Computer Science and Engineering, NYU Tandon School of Engineering, New York (Gerig); Montreal Neurological Institute, McGill University, Montreal (MacIntyre, Fonov, Collins, Evans); Department of Pediatrics, University of Alberta, Edmonton, Canada (Zwaigenbaum); Department of Speech and Hearing Science, University of Washington, Seattle (St. John, Estes); School of Behavioral and Brain Sciences, University of Texas at Dallas (Swanson).
Autism spectrum disorder (ASD) involves rapid amygdala growth in infancy, leading to larger volumes by 12 months and later social deficits. Fragile X syndrome shows early caudate enlargement, distinct from ASD brain development patterns.
Area of Science:
- Neuroscience
- Developmental Psychology
- Pediatric Radiology
Background:
- Previous studies indicate enlarged amygdala in children with autism spectrum disorder (ASD).
- The precise onset of amygdala enlargement during infancy and its relation to behavioral outcomes remain unclear.
- It is unknown if amygdala enlargement is specific to ASD or present in other neurodevelopmental disorders like fragile X syndrome.
Purpose of the Study:
- To investigate the onset and developmental trajectory of amygdala enlargement in infants at high risk for ASD.
- To compare brain development patterns in infants with fragile X syndrome and ASD.
- To examine the relationship between early brain changes and later behavioral deficits.
Main Methods:
- Longitudinal MRI scans were collected from 6 to 24 months of age.
- Participants included infants with fragile X syndrome, high-risk infants later diagnosed with ASD, high-risk infants without ASD, and controls.
- A total of 1,099 scans were analyzed from 400 infants.
Main Results:
- Infants later diagnosed with ASD showed typical amygdala volumes at 6 months but significantly faster growth between 6-24 months, with larger volumes by 12 months.
- Faster amygdala growth from 6-12 months correlated with greater social deficits at 24 months in the ASD group.
- Infants with fragile X syndrome exhibited persistently enlarged caudate volumes from 6-24 months, associated with repetitive behaviors.
Conclusions:
- ASD-related brain changes, specifically amygdala growth, emerge gradually during the first two years of life.
- Fragile X syndrome shows early and persistent caudate enlargement, distinct from ASD's developmental trajectory.
- These findings suggest age- and disorder-specific patterns of brain development preceding ASD diagnosis.
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