AUSTRALIAN SCIENTISTS have developed a genetic test to predict autism spectrum disorder in children, which could provide a long-sought way for early detection and intervention.
The test correctly predicted autism with more than 70 per cent accuracy in people of central European descent, with research into other ethnic groups continuing, according to a study published yesterday.
However, a leading Irish autism expert urged caution, saying the test was not sufficiently accurate to be relied upon by parents seeking a diagnosis for their children.
Prof Michael Fitzgerald, professor of child psychiatry at Trinity College Dublin, described the test as a welcome first step but said the success rate was very crude and could not be used in a clinical setting.
“It’s a step in the right direction but far from acceptable. I couldn’t imagine telling a parent their child had or didn’t have autism on the basis of this,” he said. The difficulty of making a diagnosis for small children is even greater than for adults because they are developing rapidly, he pointed out.
About one in 150 children has autism, with symptoms ranging from social awkwardness and narrow interests to severe communication and intellectual disabilities, according to the researchers led by the University of Melbourne.
They used US data from more than 3,000 individuals with autism in their study, published in the journal Molecular Psychiatry, to identify 237 genetic markers in 146 genes and related cellular pathways. By measuring these markers, which either contribute to or protect an individual from developing autism, scientists could assess the risk of developing autism. 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.
“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,” lead researcher Stan Skafidas said in a statement. The test would allow clinicians to provide early intervention to reduce behavioural and cognitive difficulties in people with autism.
Prof Fitzgerald said parents were free to use such a test but they would still need to go to a specialist for a clinical diagnosis.
Scientists are still a long way from understanding autism and its causes, he said.
He advised parents whose children were showing symptoms of autism, such as language and communication difficulties, to seek treatment rather than waiting for a conclusive diagnosis. Early intervention was essential, he said.
