Page URL:

Genetic test developed to predict the risk of autism

17 September 2012
Appeared in BioNews 673

A genetic test capable of predicting a person's risk of Autism Spectrum Disorders (ASDs), with an accuracy greater than 70 percent, has been developed by researchers.

'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', said lead researcher Professor Stan Skafidas, director of the Centre for Neural Engineering at the University of Melbourne, Australia.

ASDs, such as autism or Asperger's syndrome, are a group of developmental disabilities characterised by abnormal social interaction, impaired communication and repetitive behaviours. The severity of these symptoms varies greatly between people with a disorder.

The disorders can run in families, indicating a genetic component may be involved. Previous studies have identified variants in certain genes that are associated with increased risk of ASDs, but no single gene has been found to act as an accurate genetic test.

In a study published in the journal Molecular Psychiatry, scientists screened over 7,000 patients and unaffected relatives and identified 237 genetic markers that increase or decrease the likelihood of a person having an ASD. By assigning a positive score to each risk marker and a negative score to each protective marker, the authors were able to generate an overall score for each patient, with a higher score denoting a greater risk.

Although approximately one in 150 children in the USA have an ASD, making this condition relatively common, ASDs are often undiagnosed in the early stages. A recent study by the US Centers for Disease Control and Prevention (CDC) estimates an average age at diagnosis of four-years-old.

'Early identification of risk means we can provide interventions to improve overall functioning for those affected, including families', said Dr Renee Testa, a clinical neuropsychologist from University of Melbourne and Monash University and a co-author of the paper.

The researchers found that applying the test to patient and control samples allowed them to predict ASD diagnosis with an accuracy of 72 percent in people of central European descent. They next plan to assess the accuracy of the test by monitoring children who have not yet been diagnosed in an extended study.

Australian scientists develop genetic test to predict autism
Reuters |  12 September 2012
Autism gene test developed by scientists
Scotsman |  12 September 2012
CDC estimates 1 in 88 children in United States has been identified as having an autism spectrum disorder
Centers for Disease Control and Prevention |  29 March 2012
Genetic Test Can Predict Autism Risk
Medical Daily |  13 September 2012
Genetic test predicts risk for autism
University of Melbourne (press release) |  12 September 2012
Predicting the diagnosis of autism spectrum disorder using gene pathway analysis
Molecular Psychiatry |  11 September 2012
10 June 2013 - by Siobhan Chan 
A large, complex gene network in people with autism has been identified by researchers at the University of Oxford...
29 April 2013 - by Dr Daniel Grimes 
A study on identical twins with distinct autistic traits suggests that epigenetic factors may be important in understanding how the neurological disorder develops...
22 April 2013 - by Richard Fadok 
For a self-described 'look inside your genes', this programme did what it set out to accomplish but ultimately obscured the real complexity of autism spectrum disorders...
25 March 2013 - by Matthew Thomas 
Men who father children later in life are more likely to have grandchildren with autism, according to research...
21 January 2013 - by Dr Victoria Burchell 
Rare genetic variants may have a significant impact on a person's risk of developing autism, research suggests...
10 September 2012 - by Suzanne Elvidge 
A rare form of autism, caused by a mutation that alters amino acid metabolism, could potentially be treated with a nutritional supplement, according to an international team of researchers...
28 August 2012 - by Nishat Hyder 
Stem cells harvested from patients' own umbilical cord blood are to be trialled in the US as treatment for children with autism...
16 April 2012 - by James Brooks 
Genetic mutations that occur spontaneously in sperm and egg cells may increase a child's risk of autism, say scientists...
26 March 2012 - by Dr Rosie Morley 
Faulty genetic mechanisms particularly active in early life may lead to people developing autism, research suggests...
13 June 2011 - by Dr Lux Fatimathas 
American researchers have linked hundreds of spontaneous genetic mutations to the group of psychological syndromes called autism spectrum disorders (ASDs)...
to add a Comment.

By posting a comment you agree to abide by the BioNews terms and conditions

Syndicate this story - click here to enquire about using this story.