Australian researchers have developed a new diagnostic test for Autism Spectrum Disorder (ASD) that can predict its genetic risk in babies and older children.

The test is based on single-nucleotide polymorphisms (SNPs) of individuals with ASD from the Autism Genetic Resource Exchange database. The SNPs were mapped to gene pathways derived from the Kyoto Encyclopedia of Genes and Genomes in order to identify affected cellular processes and develop the test—a genetic diagnostic classifier consisting of 237 SNPs in 146 genes.

The test was applied to samples from the Simons Foundation Autism Research Initiative and Wellcome Trust 1958 normal birth cohort, which served as controls. The classifier was 71.7% accurate with its ASD diagnoses for central European individuals from the control data sets.

However, the classifier predicted the correct ASD diagnoses in 85.6% of cases using AGRE SNP data from a Central European cohort, and 84.3% in an ethnically-related Tuscan cohort—but only 56.4% in a genetically dissimilar Han Chinese cohort.

The ability to predict results accurately declined with the number of SNPs analyzed.

“While SNPs differ across ethnic groups, our pathway approach identified cellular processes common to ASD across ethnicities. Our results have wide implications for detection, intervention and prevention of ASD,” the team concluded in a paper published in Molecular Psychiatry.

“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,” Professor Efstratios (Stan) Skafidas, director of the University of Melbourne’s Centre for Neural Engineering and the team’s lead researcher. “It would be particularly relevant for families who have a history of Autism or related conditions such as Asperger’s Syndrome.”

[Read the paper here:]

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