Understanding Autism – Cedars-Sinai presents new realm of research possibilities

Scientists’ and doctors’ are understanding autism better as the number of annual diagnoses increase, in part thanks to evolving electronic health records and data collection. The condition is now regarded as a group of developmental brain disorders, which are collectively termed autism spectrum disorder (ASD) and can range in impairment.

About one in every 88 children is diagnosed with ASD, based on estimates from the U.S. Centers for Disease Control and Prevention. The condition occurs in all racial, ethnic and socioeconomic groups, and it’s nearly 5 times more common among boys than among girls. But even as statistics are compiled, researchers struggle with understanding the underlying causes and mechanics of ASD. Now, however, a group from Cedars-Sinai in Los Angeles has released data from what is considered the first study of its kind – and it’s implications for future understanding of and research into ASD are fascinating.

Delving into the brain’s neurons
Over the years, a number of studies regarding ASD have shown a singular, recurring piece of information. The Cedars-Sinai researchers used this as their launching point.

“Many studies have found that people who have autism fail to focus on the eye region of others to gather social cues and process information about emotions,” said lead author Ueli Rutishauser, Ph.D., assistant professor of neurosurgery and director of Human Neurophysiology Research at Cedars-Sinai. “The amygdala – which is critical for face recognition and processing of emotions – is thought to be one of the principal areas where dysfunction occurs, but this is the first time single neurons in the structure have been recorded and analyzed in patients with autism.”

The Cedars-Sinai researchers gathered two patients considered “high-functioning” on the autism spectrum and examined the firing activity of individual neurons in their amygdalae as the subjects viewed a series of pictures. In each picture, a face or part of a face would express an emotion and the two patients were tasked with choosing what emotion was being expressed.

The readings from the patients with ASD were then compared to similar neuron readings from patients who did not have autism. The researchers then discovered that one specific kind of neuron was performing atypically in the autism group.

As the researchers explained it in their study, the amygdala contains numerous types of neurons. With regard to facial recognition, there are two specific types: one that fires when an individual takes in an entire face and another kind that fires when parts of a face or specific facial features are being observed. In this study, the researchers found that the “whole face” neurons for the patients with autism fired appropriately – but the “face-part” neurons did not register as actively when shown certain parts of the face, such as the eyes.

Senior author Ralph Adolphs, Ph.D., Bren Professor of Psychology and Neuroscience at Caltech, noted that the study didn’t just offer science and medicine a glimpse of the underlying mechanisms behind ASD, it also presented a new realm of research possibilities.

“Are there genetic mutations that lead to changes in this one population of neurons? Do the cell abnormalities originate in the amygdala or are they the result of processing abnormalities elsewhere in the brain? There are many questions yet to be answered, but this study points us in a specific direction that we believe will help understand autism,” he said.

How coordinated care can help
As pointed out, ASD isn’t a single disorder – it’s a group of developmental conditions. As a result, it requires a group-oriented approach to care. Care coordination – from child psychiatrists to pharmacists to primary care doctors to neurologists – has proven to be an effective way to help individuals and families dealing with autism cope.

The Autism Speaks Autism Treatment Network ATN is one such group. By assembling clinical teams that provide comprehensive and coordinated care that loops in speech, physical and occupational therapists alongside physicians and specialists.

But the benefits aren’t just to patient treatment and outcomes. Electronic health records also open the door to advances in big data collection. The more readily available information about ASD is, the better researchers can come to understand its causes.

Data collection is a major part of health IT reform, and one of the primary benefits of electronic health records being utilized throughout the care continuum. While doctors will always be concerned with patient care foremost, the ancillary potentials of emerging health IT could have further reach.

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