Researchers from Australia have developed a genetic test that can predict an individual's risk of developing Autism Spectrum Disorders (ASDs). The test will be particularly useful to detect autism in people whose families have a history of the developmental disorder.
"It would be particularly relevant for families who have a history of Autism or related conditions such as Asperger's Syndrome," said Professor Stan Skafidas, Director of the Centre for Neural Engineering at the University of Melbourne and lead researcher of the study.
ASDs are a group of developmental disabilities that can cause significant social, communication and behavioral challenges. People with ASDs handle information in their brain differently compared with other people, according to the Centers for Disease Control and Prevention (CDC).
ASDs are considered to be a "spectrum disorder" because the intensity of the disability varies from person to person. In some cases the disability is so mild that it can go undetected for many years. The researchers have been trying to find ways of detecting the syndrome as early as possible because early detection would help patients and their families have a better quality of life, although there is no cure for the syndrome.
"Early identification of risk means we can provide interventions to improve overall functioning for those affected, including families," said Dr. Renee Testa, clinical neuropsychologist from the University of Melbourne and Monash University.
The study involved more than 7,000 participants, 3000 of whom were people suffering from ASDs while the others were relatives of these patients. The researchers identified 237 genetic markers, or single-nucleotide polymorphisms (SNPs), in 146 genes and related cellular pathways that either protect or increase risk for ASDs in people.
Single-nucleotide polymorphisms (pronounced "snips") are variations that occur in DNA when a single nucleotide in the genomic sequence is altered. SNPs are studied because scientists believe that these variations will help them find the multiple genes associated with autism, cancer, diabetes, heart disease among many others.
The present genetic test predicts an individual's risk for developing autism. An individual having a high score in this genetic test will have a higher risk of developing the ASDs.
"This has been a multidisciplinary team effort with expertise across fields providing new ways of investigating this complex condition," said Professor Christos Pantelis from University of Melbourne and senior author of the study in a press release.