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Autism spectrum disorder (ASD) – an umbrella term that covers disorders such as autism and Asperger syndrome – affects a person’s ability to communicate and socialise.
Those with autism often display traits such as poor eye contact or repetitive body movement.
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Currently, there are no definitive biomarkers to nail down a diagnosis. Instead, those on the spectrum are identified based on reports from parents and clinical observation methods such as standardised questionnaires.
http://health.asiaone.com/health/health-news/singapore-team-identifies-gene-could-play-role-autism
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Singapore team identifies gene that could play role in autism
Singapore researchers have pinpointed a gene that could play a key role in causing autism.
The Duke-NUS team found that changes in the gene, CDH13, cause the brain’s circuitry and how its cells communicate with each other to work differently than usual.
People with autism have been found to have mutations of this gene.
The team’s work, the first of its kind in the world on this particular gene, furthers the global consensus for a large genetic basis for the common developmental condition.
Knowing the genes behind the condition and how they work will play a significant role in detecting autism earlier and developing drugs to treat it.
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Although the number of diagnoses has surged both in Singapore and globally, science has yet to determine the specific causes and mechanisms behind ASD.
One in 150 children here is on the spectrum, a higher rate than the World Health Organisation’s global figure of one in 160 children.
More pre-schoolers here are being diagnosed with developmental issues such as autism, speech and language delays and behavioural problems.
There were 4,400 such children in 2014, a 76 per cent jump from the 2,500 in 2010, partly because of greater awareness among parents and teachers in having children assessed.
There is general agreement among experts that genes have a role to play in ASD, as studies show that identical twins have autism more frequently than fraternal twins.
Genes are also most likely a big culprit because ASD occurs in early childhood.
“There are about 100 identified genes that may predispose someone to ASD. However, variants in known genes account for a fraction of ASD cases,” said Professor Steve Rozen, director of the Duke-NUS Medical School’s Centre for Computational Biology.
“We have found that CDH13 has a strong effect in causing ASD, and so we can use mouse experiments to test therapies.”
http://health.asiaone.com/health/health-news/singapore-team-identifies-gene-could-play-role-autism
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