Fast-Tracking Autism: Diagnosis and Treatment

NYU Langone Medical Center Is Pushing the Frontiers of Autism Diagnosis and Treatment


Melissa Nishawala, MD, (left) assistant professor of child and adolescent psychiatry, and Adriana Di Martino, MD, (right) research director for autism and assistant professor of child and adolescent psychiatry in the Center for Neurodevelopmental Disorders at NYU Langone’s Child Study Center.

The Autism Brain Imaging Data Exchange (ABIDE) is providing researchers and clinicians with an important glimpse into the functional organization of the brains of individuals with autism, and these findings are accelerating the pace of discovery and setting the stage for the next generation of autism spectrum disorder (ASD) studies.

ABIDE—cofounded and managed by Adriana Di Martino, MD, research director for autism and assistant professor of child and adolescent psychiatry in the Center for Neurodevelopmental Disorders at NYU Langone’s Child Study Center - provides resting state functional magnetic resonance imaging (fMRI) data on more than 1,000 people with autism from 17 international sites along with corresponding structural MRI and phenotypic information from 539 individuals with ASDs and 573 age-matched typical controls. The largest imaging sample available through open sharing is helping to take research out of the traditional silos so that it can better foster discovery and innovation.

Since it began in 2012, the registry has given rise to several significant research papers and poster presentations. One study published in June 2013 in Molecular Psychiatry helped to elucidate the disconnection model of autism by illustrating concurrent hypo- and hyper-connectivity in different regions of the brains of individuals with autism. Specifically, MRI images from the ABIDE registry showed hypoconnectivity in the brain’s corticocortical and interhemispheric regions, andhyperconnectivity in the subcortical region, namely, the thalamus. “The prefrontal cortex has always been considered important in autism, but these studies are highlighting the role of other circuits, like the thalamus,” Dr. Di Martino says.

“There are too many neurons and not enough pruning of the pathways in the brains of people with autism, which disrupts neural circuitry,” adds Melissa Nishawala, MD, assistant professor of child and adolescent psychiatry and medical director of the Autism Spectrum Disorders Clinical and Research Program at NYU Langone’s Child Study Center. “Resting state fMRIs show these connections, and it looks like noise until you tune in and a pattern appears, and then . . . wow! Even when a child is doing nothing, their social centers, motor centers, and language centers are communicating with each other. This is important for coordinating, gesturing, speaking, and socializing.”

The hope is that these studies will provide insights into the mechanism of the pathophysiology responsible for autism and ultimately lead to the development of more effective therapies that can be implemented earlier than is currently possible. “The earlier we make the diagnosis, the sooner we can do something about autism,” Dr. Nishawala says.

There is progress even as ABIDE data are culled, says Dr. Nishawala. Child psychiatrists and autism specialists at NYU Langone are helping families move beyond the label and toward therapies that work. “You can’t just say a kid has autism. You have to look at the other things going on. There are many choices for helping each child,” she says. “We are hoping in the future to use brain scans to predict which treatment will be most beneficial to a child with autism and to track the child’s progress.

“The challenge in treating autism is to identify the strengths and weaknesses in each patient and use the best therapies available for them,” Dr. Nishawala says. The Child Study Center offers several types of therapies in addition to gold-standard applied behavior analysis, including pivotal response treatment, the Early Start Denver Model, and others. The therapists at the center match these treatments to individuals based on their needs, strengths, and weaknesses.