OXFORD scientists say they are on the brink of developing a blood test to help diagnose autism.
The test, which would use a few drops of blood to allow doctors to analyse a patient’s DNA, has been proposed by genetics experts at Oxford University and could be in clinics by 2013.
Autism is a lifelong developmental disability which affects the way a person communicates and relates to people around them.
More than 700 children in Oxfordshire have been diagnosed with the condition.
A team of researchers from the Wellcome Trust Centre for Human Genetics has been studying the cause of the disorder.
Along with experts from 12 other countries, they have identified a genetic ‘fingerprint’ which is 20 per cent more common in autistic children than in unaffected individuals.
Scientists at the university said by diagnosing autism via the planned kit, life-changing treatment could start earlier and provide much needed answers for families.
They have now applied for funding for a pilot study which will involve 1,000 newly diagnosed autistic children.
Prof Tony Monaco, who is leading the Oxford team from the Wellcome Trust Centre for Human Genetics, said if the funding was secured, the kit could be in NHS clinics by 2013.
He said: “Our research strongly suggests that this type of rare genetic variation is important and accounts for a significant portion of the genetic basis of autism.
“By identifying the genetic causes of autism, we hope in the future to be able to improve the diagnosis and treatment of this condition, which can affect children and their families so severely.”
The discovery has come out of one of the largest studies into autism, involving 120 scientists from 50 universities, including those from the Wellcome Trust.
Their studies revealed that ‘genetic disruptions’, which involved losses and duplications of whole chunks of DNA, were more common in children with autism even though they were often not present in their parents.
The losses and duplications have the effect of damaging genes and interrupting communication between nerve cells in the brain.
Prof Monaco said if a test was introduced it could potentially tell parents whether siblings of children with autism were more likely to be born with it too, thereby giving people a chance to prepare and find out more about the disorder.
He added: “Just knowing about these genetic changes can help the families involved come to terms with why their child has autism, but it can also be important where there are siblings in determining future risk.”
Mother-of-two Rosemary Northing, of Ladygrove, Didcot, said she was excited at the prospect of the test.
Mrs Northing’s four-year-old son Kaylan was diagnosed with severe autism in July 2008.
She said: “I think it could be a fantastic thing to carry out a blood test for autism.
“Knowing for sure could open up options for medical treatments for parents.”
Gita Lobo, from Oxfordshire Autism charity, Children in Touch, said it was very early days to comment on the blood test.
But she added: “All I can say is the earlier the diagnosis the better for everyone.”
James Jeacock, 17, from Bicester was diagnosed with high-functioning autism five years ago after he was hit by a car.
His dad Dale said he would welcome a test. He added: “If it was proven to be fault-proof then I’d definitely welcome it.Who wouldn’t want to know for definite?”
Are you or your family affected by autism?
Call the Oxford Mail newsdesk on 01865 425 405 or email health reporter amanda williams at awilliams@oxfordmail.co.uk
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