Excess Brain Fluid May Be Early Indicator of Autism in Infants


A research team from The Children's Hospital of Philadelphia's Center for Autism Research (CAR) and colleagues from a national collaboration have made another discovery about the development of the brain in babies and toddlers who go onto have autism. Bob Schultz, PhD, Director of CAR and his team, have contributed to each of these studies as a member site within the NIH-funded Infant Brain Imaging Study network. 

The investigative team found that some infants who go on to develop autism by age 2 have an abundance of brain fluid- called cerebrospinal fluid - between the brain and the skull in the first year of life.  

The study was published in the journal Biological Psychiatry and is among a trio of articles the team has published in recent months pointing to very early brain changes- or biomarkers- in infancy that may signal the development of autism spectrum disorder (ASD). 

All three studies used brain imaging and diagnostic testing to follow infants who had an older sibling with an autism diagnosis. Having an older sibling with ASD places these infants at a twenty-times-higher risk for developing the disorder themselves. The two other studies found that the younger siblings who went on to develop autism by age two showed more rapid brain growth and differences in the atypical patterns of neural activity in the first year of life.

Significantly, the brain areas pinpointed in each of these studies, are known to be involved with the regulation of social behavior, a key component of ASD.  Each of the three biomarkers the study teams identified was able to predict who which babies would go on to receive a diagnosis of autism at age 24 months, with overall accuracy ranging from over 90% to about 70%.  

"We've been working in partnership with the families who volunteer to be a part of this work, and with an incredible network of colleagues across the country, for the better part of a decade in order to learn from younger siblings about changes in the brain that might signal autism years before a behavioral diagnosis can be made," explained Schultz, who leads the IBIS research at CHOP. "With these latest findings, we are getting very close to being able to confidently identify which babies are likely to develop autism, and this will allow us to begin earlier interventions that we hope will blunt the severity autism symptoms as the child grows older. The discoveries also point to biological processes and mechanisms that lead to autism, deepening our understanding of the origins and timing of the emergence of autism.”

The researchers are particularly encouraged by the most recent findings regarding excess brain fluid, because it is the very first study of early markers of autism that has been independently validated or replicated in two different studies.The research team hopes more such successes will follow suit. 

A longer article about these findings was recently published on the Simons Foundation’s Spectrum News blog.