Scientists Develop Gene Screen Method to Identify Causes of Autism

Scientists have developed a new screening method, called 'multiplex ligation-dependent probe amplification' (MLPA) to detect genetic defects linked with autism spectrum disorders (ASDs).

The new technique will help clinicians identify the underlying causes of some patients' ASDs.

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Led by Joseph Buxbaum from Mount Sinai School of Medicine, New York, researchers evaluated the use of MLPA.

MLPA is a recently developed method of investigating DNA, in genetic counselling.

"MLPA is a relatively practical, inexpensive and fast tool for screening chromosome rearrangements in autism spectrum disorders," said Buxbaum.

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ASDs have been linked with genetic abnormalities and have also been found to cause some degree of cognitive impairment in children.

For the study, MLPA was used on a group of 279 children with ASD, to find out the abnormalities known to be associated with cognitive impairment.

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"By focussing on well-known genetic disorders, rather than assaying an individual's entire genome, MLPA allows for much more efficiency," said Buxbaum,

With the identification of more genetic abnormalities associated with ASDs, doors are opened for using more probes in future screens.

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Also, while demonstrating the effectiveness of MLPA as a screen for known genetic disorders, the authors also identified some new genetic changes that are likely to contribute to ASD.

The genetic changes include novel duplications (extra copies of genetic material) in chromosomes 15 and 22, which may increase liability and/or exacerbate ASD symptoms.

While there is no known cure for ASDs, early detection and commencement of special education and behavioural therapy can allay some of the negative symptoms.

The study is described in the open access journal BMC Medical Genomics.

Source-ANI
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