Genetics of Autism Help Detect At-Risk Kids
September 13, 2012

New Test Uses the Genetics of Autism to Detect At-Risk Kids

Connie K. Ho for — Your Universe Online

For people with Autism Spectrum Disorder (ASD), the basic communication skills and behavioral habits that we take for granted on a daily basis can be socially debilitating obstacles. As such, an increasing amount of research is going on in this field largely in response to the growing number of cases diagnosed each year.

A potentially critical study from researchers at University of Melbourne was published in the journal Molecular Psychiatry this week that points to the possibility of a genetic test that could be used to assess the risk of developing ASD for babies and young children.

"This test could assist in the early detection of the condition in babies and children and help in the early management of those who become diagnosed," explained lead researcher Stan Skafidas, Director of the Center for Neural Engineering at the University of Melbourne, in a prepared statement.

"It would be particularly relevant for families who have a history of Autism or related conditions such as Asperger's Syndrome.”

The scientists found that the test could correctly predict ASD with over 70 percent accuracy in people of central European ethnic background. The team is still fine-tuning their technique in an attempt to create an accurate testing method that can be applied to individuals of other ethnic backgrounds. The researchers believe that these tests will help doctors provide intervention at an earlier stage as well as limit behavioral and cognitive issues in children and adults who develop ASD.

"Early identification of risk means we can provide interventions to improve overall functioning for those affected, including families," remarked Dr. Renee Testa, a clinical neuropsychologist from the University of Melbourne and Monash University.

In the past, researchers have attempted to identify a single genetic that was responsible for the development of autism, a search that has largely proven fruitless.

Working with the Autism Genetic Resource Exchange (AGRE) and Sions Foundation Autism Research Initiative (SFARI), the team of investigators pooled data from 3,346 individuals with autism and 4,165 of their relatives. All told, they found 237 genetic markers (SNPs) in 146 genes as well as a number of associated cellular pathways that added to or protected against the development of ASD.

Using this variety of genetic markers, the team developed a test for determining an individual´s relative risk of developing ASD. The score on the test increases with the number of risk markers present and decreased with the presence of protective markers, meaning that people who scored high were at a higher risk of developing ASD.

"This has been a multidisciplinary team effort with expertise across fields providing new ways of investigating this complex condition," noted Pantelis in the statement.

According to the study, one out of every 150 children born last year will develop ASD. Those affected with the disorder have difficulties with social interactions and communication, and often display compulsive, repetitive behaviors. There is currently no cure for ASD, but early intervention can improve a child´s behavioral development.

In moving forward, the researchers hope to improve the accuracy and applicability of the test, turning it into a valuable diagnostic tool for early detection of ASD and related disorders.

The Centers for Disease Control Prevention (CDC) also recommends that parents and guardians contact a doctor if they suspect that their child may be displaying symptoms of ASD.