Singapore experts launch study to pinpoint autism genes

SINGAPORE - Singapore researchers have embarked on a groundbreaking study of the causes of Autism Spectrum Disorder (ASD).

The team hopes to come up with a more accurate way to diagnose the condition and develop drugs to treat it.

ASD - an umbrella term that covers disorders such as autism and Asperger syndrome - affects a person's ability to communicate and socialise.

Those who suffer from it often display traits such as poor eye contact or repetitive body movement.

Although the number of people diagnosed with the condition has surged both in Singapore and globally, science has yet to pinpoint the causes and mechanisms behind it.

Singapore has about 24,000 autistic people and the Ministry of Health's Child Development Programme diagnosed 610 pre-schoolers with ASD last year, up from 360 in 2005.

"We know that it has a strong genetic component, but that the genetic component is also very diverse and probably involves hundreds of genes," said Associate Professor Steve Rozen of the Duke-NUS Graduate Medical School's Cancer and Stem Cell Biology Programme.

"Only a handful of these genes have been identified, and none accounts for more than a small fraction of the condition."

Prof Rozen worked with his peers from the United States to locate a sequence of more than 700 genes taken from those with ASD.

A team of four researchers from the school's Neuroscience and Behavioural Disorders Programme intends to build on his work by pinpointing the genes responsible for causing the different brain defects seen in people with the condition.

The researchers hope to use their findings to come up with ways to diagnose ASD earlier and more accurately.

At the moment, there are no definitive biomarkers to nail down a diagnosis.

Instead, those who suffer from it are identified based on reports from parents and clinical observation methods such as standardised questionnaires.

This means that deciding whether someone has ASD can be a subjective process. And the vagueness in the current criteria has led researchers in the US to suspect that the skyrocketing numbers of those with ASD are inflated.

Rates of autism and related disorders such as Asperger syndrome have soared since the early 1980s. In some areas, as many as one in 100 people are diagnosed as suffering from ASD.

"Overdiagnosis may lead to children taking unnecessary drugs or going for therapy that is not needed," said Dr Eyleen Goh, an assistant professor at the school.

So instead of relying on diagnosis based on observation and psychological tests, the team is working on neuro-imaging and a visual test that can do the job more accurately.

Shedding light on the genetic aspect of the condition will allow for new drugs to be designed.

There is no cure for ASD but the symptoms can be treated using techniques such as speech and occupational therapy.

Dr Goh plans to recruit between 50 and 100 Singaporeans with the condition to help researchers make sure the drugs suit an Asian population.

She is working with the KK Women's and Children's Hospital to find local patients.

The team, which is funded by the National Medical Research Council, Ministry of Education and Ministry of Health, intends to publish its initial findings in one to two years.

Behavioural therapist Lau Lee Fang, 50, said she would not mind if her 15-year-old son, who has autism, took part in the study, if it is non-invasive.

"Earlier and more accurate diagnosis sounds promising because doctors often say it's too young to tell if a child has autism," she said. "But the younger he is treated, the better the outcome."

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