School of Medicine

Abnormal development of brain’s visual system may contribute to autism

As a child looks at pictures on a screen, computers track eye movements to see what the child is actually focused on. Children with autism spectrum disorder focus less often on people's faces than children without the disorder. A new study, led by researchers at Washington University School of Medicine in St. Louis and the University of North Carolina School of Medicine, has identified abnormalities in the development of the brain’s visual system in infants that may predispose them to developing autism. (Photos: WUSM)

A research team, led by Washington University School of Medicine in St. Louis and the University of North Carolina (UNC) School of Medicine, has identified abnormalities in the development of the brain’s visual system in infants that may predispose them to developing autism.

The research, published May 26 in the American Journal of Psychiatry, suggests that irregularities in the brain’s visual system may alter the way that some babies experience their surroundings and interact with others, thus further affecting brain development and potentially contributing to autism spectrum disorder.

The researchers conducted MRI brain scans on the 384 babies at high risk of autism because they have older siblings with autism spectrum disorder. Indeed, almost 25% of the infants in the study went on to be diagnosed with autism. Their brain scans revealed abnormalities in the size, white matter and functional connectivity of the babies’ visual systems, and such irregularities were present long before any symptoms of autism were detectable.

“These abnormalities in the brain’s visual structures track very nicely with our earlier research into the eye movements of children with autism,” said John N. Constantino, MD, one of the study’s senior authors, the Blanche F. Ittleson Professor of Psychiatry and Pediatrics and director of the Division of Child Psychiatry at Washington University. “In past research, we’ve noted that children with autism often look less at people’s faces than children without the disorder. In this study, we’ve seen that abnormal development of the visual system may be rooted in genetics because the extent of alterations in the visual systems in children as young as 6 months old was associated with the severity of autism traits in their older siblings.”

The research was conducted as part of the Infant Brain Imaging Study (IBIS), funded by the National Institutes of Health (NIH) and involving researchers at nine universities in the United States and Canada.

The children in the study were scanned at 6, 12 and 24 months of age, and 89 of those babies went on to develop autism themselves. That’s almost a one-in-four chance, significantly higher than the 1 in 54 children currently affected by autism spectrum disorder in the United States.

The researchers measured brain volume and surface area in the occipital cortex, a brain region involved in vision. They also examined white matter in a part of the brain previously linked to how infants track visual stimuli in the environment. In addition, the researchers documented the autistic traits in older siblings.

They found that in 6-month-olds who went on to develop autism by their second birthdays, brain features related to the structure and function of the visual system were different from infants who didn’t develop autism.

“It is particularly notable that we were able to demonstrate associations between brain findings in these infants and the behavior of their older siblings with autism,” said co-senior author John R. Pruett, Jr., MD, PhD, a professor of psychiatry at Washington University. “The convergence of brain-wide fcMRI results with structural and diffusion MRI findings strengthens our confidence in these discoveries, which now can be tested in a new group of 250 infants being recruited for another study because they have affected siblings and are at very high likelihood.”

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