New gene find for autism

CATHY O'LEARY, MEDICAL EDITOR, The West Australian Updated June 11, 2010, 2:45 am
Cameron Smith, 5, has been having early intervention therapy for two years.

WA News / Megan Powell © Cameron Smith, 5, has been having early intervention therapy for two years.

The world's biggest DNA scan for autism has uncovered new genetic changes linked to the condition which US researchers say could help doctors diagnose children earlier and deliver improved treatment.

The results, published in the journal Nature by the Autism Genome Project led by the Mount Sinai school of medicine in New York, could speed the development of the first genetic test for the condition, which affects up to one in 160 Australians.

A detailed study of almost 1000 children with autism and their parents found sections of the DNA were either missing or duplicated in people with the condition.

Clusters of the new genetic variations were rare in healthy children but 20 per cent more common in those with autism. An unexpected finding was that some of the genetic changes found in the children were not carried by the parents, suggesting that tiny genetic errors might occur during the formation of the parents' eggs and sperm and then pass on to the child.

Mount Sinai psychiatry and genetics professor Joseph Buxbaum said the landmark study showed an overlap between autism susceptibility genes and genes previously linked to other intellectual disabilities.

"As we continue to uncover genetic mutations that can cause autism, we are gaining further insights that will ultimately lead to earlier diagnosis and better treatments," he said.

The study also confirmed some children carry "private" genetic mutations unique to them which contribute to their susceptibility.

The results coincided yesterday with the release of a study by Melbourne researchers who found that special brain markers for autism could be seen in a scan known as an electroencephalogram.

Swinburne University said the scan recorded activity in the brain prompted by visual images and could become a new tool to diagnose autism.

In Fremantle, LEARN Foundation for Autism chief executive Mandy Mason said early diagnosis was crucial in improving the outcome for children such as five-year-old Cameron Smith, who has been having early intervention therapy for two years.

"It's really important that children are diagnosed before the age of three so they don't fall too far behind and are given communication skills so they can access the world", she said.

"Untreated autism at the age of two or three becomes a severe disability by age eight because children regress and don't have the social skills they need."


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23 Comments

  1. Mfh06:37am Friday 11th June 2010 WSTReport Abuse

    It is great that they are starting to find out what causes Autism, one steo closer to helping people with autism.

    Reply
  2. Fiona06:43am Friday 11th June 2010 WSTReport Abuse

    Great article - and good news! but a point on political correctness - "Clusters of the new genetic variations were rare in healthy children but 20 per cent more common in those with autism." Children with Autism are usually very healthy. A more politically correct term for "healthy children" would be "neurotypical children".

    1 Reply
  3. Darlene06:47am Friday 11th June 2010 WSTReport Abuse

    i have a mutated gene that causes a family heritory walking condition but my 2 children have no signs of this physical disability but both do have autism.. i wonder??

    Reply
  4. Fiona06:47am Friday 11th June 2010 WSTReport Abuse

    (cont'd)A more politically correct term for "healthy children" would be "neurotypical children"

    2 Replies
  5. 2 14
    Graham J06:54am Friday 11th June 2010 WSTReport Abuse

    Isn't it possible that there are a number of factors that can lead to "Autism" and they can be triggered by physical or mental trauma or vaccination?

    1 Reply

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