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Autism in Children and Babies Detected Early by Genetic Testing

Update Date: Sep 13, 2012 12:01 PM EDT

A team of Australian researchers from the University of Melbourne have actually developed a genetic testing procedure that could aid in the early detection and intervention of Autism Spectrum Disorder in children and babies.

"It would be particularly relevant for families who have a history of autism or related conditions such as Asperger's syndrome," says lead researcher Professor Stan Skafidas, Director of the Center for Neural Engineering at the University of Melbourne.

According to statistics gathered from The World Health Organization and the Centers for Disease Control and Prevention, Autism affects around one in 150 births and is characterized by abnormal social interaction, impaired communication and repetitive behaviors.

The test designed by Skafidas and colleagues correctly predicted ASD with more than 70 percent accuracy in people of central European descent. Ongoing validation tests are continuing including the development of accurate testing for other ethnic groups.

The authors suggest that the test would allow clinicians to provide early interventions that may reduce behavioral and cognitive difficulties that children and adults with ASD experience.

 "Early identification of risk means we can provide interventions to improve overall functioning for those affected, including families," said Dr Renee Testa from the University of Melbourne and Monash University, as quoted from a report from the University's website.

The test is based on measuring both genetic markers of risk and protection for ASD. The risk markers increase the score on the genetic test, while the protective markers decrease the score. The higher the overall score, the higher the individual risk.

According to the report, the researchers identified 237 genetic markers (SNPs) in 146 genes and related cellular pathways that either contribute to or protect an individual from developing ASD.

Senior author Professor Christos Pantelis of the Melbourne Neuropsychiatry Centre at the University of Melbourne and Melbourne Health holds that both the findings and the project has been a "multidisciplinary team effort with expertise across fields, providing new ways of investigating this complex condition."

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