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Autism breakthrough

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Researchers in the United States have identified gene networks involved in abnormal brain growth in autism, as well as a breakthrough genetic ‘signature’ of autism in babies just 12 months old, leading to the development of a simple diagnostic blood test, a conference in Adelaide has been told.

The breakthrough was announced by Professor Eric Courchesne, Director of the Autism Centre of Excellence at the University of California, San Diego (UCSD) when he addressed the Asia Pacific Autism Conference in Adelaide.

“We have identified several gene networks that are a common thread in autism,” said Professor Courchesne.

“During the fourth, fifth and sixth months of pregnancy, they disrupt the production of brain cells, producing too many, or in some cases too few, and how the cells are organised and connected.

“We’ve also identified four gene networks that are a ‘biological signature’ of autism in babies as young as 12 months. A blood screening test is being developed. At this stage it’s looking very promising that the blood screening test will have high accuracy, specificity and sensitivity for children at risk of autism.”

Professor Courchesne and his research partner Dr Tiziano Pramparo and their team have spent the past six years on this specific piece of work.

They scanned the brains and analysed the blood of more than 600 babies and toddlers aged from 12 months to four years.

“This discovery really changes the landscape of our understanding of causes and effective treatments,” Professor Courchesne said. “This is going to lead to much better treatments at a much earlier stage and a large percentage of children having an excellent outcome.

“People have been looking at individual genes. What we’ve found is that it is how these genes combine in networks and how these networks disrupt brain growth that is a common pathway in autism.”

Professor Courchesne said the discovery further firms his belief that autism is caused by genetic and non-genetic factors.

The UCSD centre says its mission is to discover an early behavioural and biological signature of infants at risk for autism.

To achieve this, the centre uses state of the art methodology, including functional and structural brain imaging, eye gaze tracking, and detailed genetic tests that map early development in a wide range of babies, including those at risk for autism as well as those who are developing normally.

“The ultimate goal of our program is to help families by establishing reliable biomedical indicators that will translate into rapid identification and early treatment for all children who need it,” the centre says on its website.

Debra Vermeer