Scientists identify genetic factors behind autism spectrum disorder

The discovery that people with autism spectrum disorders (ASDs) have unusually high rates of certain genetic variants, and the discovery that these variants are linked to autism spectrum conditions, could lead to new ways to identify children with autism.

The new study published in the journal Nature Communications finds that individuals with ASDs have about three times the risk of developing a neurodevelopmental disorder and about five times the odds of developing ASD as the general population.

These differences are consistent with the idea that the risk for developing autism and other developmental disorders is higher in people with the disorder than in the general public, said lead author James W. Hensley, Ph.

D., of the University of Pittsburgh School of Medicine.

“This suggests that genetic variants may have a greater effect on the development of ASD than previously believed,” said lead study author and professor of genetics and molecular biology in the University at Buffalo College of Medicine, Daniel R. Zajac.

“It also suggests that these genetic variants are related to some of the developmental disorders that people experience.”

The study focused on people who were diagnosed with autism in the past, and then followed up with their families and doctors to see if the family members or doctors were using genetic testing to diagnose autism.

Hensley and colleagues used data from a large population-based survey of people with ASD in the U.S. and Canada, which were matched with information about the genetic makeup of people in the community.

The results showed that individuals who were not diagnosed with ASD had significantly higher rates of other developmental and psychiatric disorders, such as ADHD and autism spectrum diagnoses, compared with those who were.

“Our study suggests that autism spectrum syndromes are not exclusively genetic,” said Hensleys co-author and postdoctoral fellow James J. Miller, M.D. “In fact, there are genetic variants that are associated with more severe autism.”

In the current study, researchers used a computer-based algorithm that identified genetic variants associated with different types of autism and developmental disorders.

They also used the algorithm to estimate the probability of autism spectrum syndrome (ASSS), a diagnosis of autism, or of other mental health disorders.

For example, the algorithm would be able to detect a person with a single genetic variant that causes a condition that is characterized by a particular set of symptoms and behavioral patterns, such the presence of repetitive behaviors and hyperactivity.

The person could also be diagnosed with an autism spectrum condition with multiple genetic variants.

“These are the kinds of things we could see as potential biomarkers,” Hensleys said.

“The combination of genetic and clinical data may provide us with insight into how these genetic differences influence our patients’ mental health, and what we can do to better diagnose these disorders.”

The researchers said their results could help doctors develop a more personalized approach to the diagnosis of ASDs and other disorders.

“The combination between genetic and biomarkers could provide insight into the biology of ASD and what genetic testing could tell us about the brain and other biological systems in the brain,” said Miller.

“For example we could then better understand how genes influence brain development and how these gene variations influence brain function.”

For more information about autism spectrum and autism, visit the autism spectrum website at