Scientists develop genetic autism test

2012-09-12 16:38

Canberra - 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, according to a study published on Wednesday.

About one in 150 children has autism, with symptoms ranging from social awkwardness and narrow interests to severe communication and intellectual disabilities, said researchers led by the University of Melbourne.

The researchers 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 correctly predicted autism with more than 70% accuracy in people of central European descent, with study into other ethnic groups continuing.

The test would allow clinicians to provide early intervention to reduce behavioural and cognitive difficulties in people with autism.

"Early identification of risk means we can provide interventions to improve overall functioning for those affected, including families," clinical neuropsychologist Renee Testa said in a statement.

  • DerpyHooves - 2012-09-12 18:01

    Great news, parents will now be able to make informed decision.

      pwhanekom - 2012-09-12 21:21

      Of what exactly should I be making an informed decision? Just wondering exactly what you are referring too?

      pwhanekom - 2012-09-12 21:43

      To whoever gave me the thumbs down. I have a son on the autism spectrum and despite all the negative prognosis' made by medical professionals he is an amazing kid with a beautiful sense of humour following the mainstream curriculum. I've also just completed my Masters degree (Cum Laude) in Educational Support - specifically on how parents deal with having a child on the autism spectrum. What is your qualifications?

      DerpyHooves - 2012-09-12 22:21

      I have a level 5 lotus ph.d in internetonics, what does it matter? The point it is better to know sooner, rather than later, irrespective of what the parents decision is. And I know I'm dodging the of what you you are asking, so I'll give you a straight answer. The decision is either abortion or continuing. I don't judge parents making either choice, however, if it where me (I am not as brave as some parents). I would probably go for option 1.

      pwhanekom - 2012-09-13 06:59

      Dear Derpy, did you read the article before commenting? They have found a way of predicting, with a 70% success rate, children who will develop autism. First of all that means that in 30% of cases they get it wrong! And then autism is a spectrum of diseases not one disease with one outcome. On the one end of the spectrum sits most of Microsoft and Apple's employees and on the other end the one's you saw in Rainman. So an informed choice would be to abort? Don't get me wrong, I totally understand when people opt to abort when the only outcome possible will result in pain and suffering (although I would not be able to make that choice), but this research contributes nothing to assists parents with an informed choice. Education to inform the public about what autism actually means would be much more informative. If you really want to know more, google Dr Temple Grandin and then tell me you would have informed her parents to abort her!!

  • dylan.mcmurtrie.7 - 2012-09-12 20:19

    Since when was autism genetic?????

      pwhanekom - 2012-09-12 21:19

      Since day 1. What did you think it was? A useless mother's fault or a figment of your imagination?

  • pwhanekom - 2012-09-12 21:25

    Now can we please spend some money on finding a cure or affordable treatment options. Each new diagnostic tool just means more kids diagnosed!

      DerpyHooves - 2012-09-12 22:22

      Can't cure genetics.

      pwhanekom - 2012-09-13 06:48

      Ever heard about genetic engineering? Genetics just causes the symptoms, but therapy and medication can eleviate the symptoms. There's a saying in the autism community: If it walks like a duck, quacks like a duck and swims like a duck it's probably a duck. In other words if a person with autism can fit seemlessly into society he/she should be seen as normal/cured (although their genes might still look different to yours).

  • angelo.cameron.5 - 2012-09-13 09:41

    Have we not read the same article? The test applies to children not a fetus. Further it is an risk assesment not a diagnosis A lab test allows for intervention planning which can only be a good thing. Even if all it does is to reassure parents that they have not done anything wrong.

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