A new study has found that dual gene tests can detect autism and help people understand and manage the condition better.
When using the tests in a traditional fashion, US and Canadian researchers were able to track down genes that have the potential to explain child autism in almost 16 percent (16%) of the existing cases. But when they used cutting edge tests to identify physical abnormalities in children, the number rose up to almost 38 percent (38%).
Dr. Bridget Fernandez, senior author on the study and chair of genetic medicine from the Memorial University of Newfoundland (Canada), gave a statement saying that they are birth defects which point at the fact that these children went through developmental problems when they were in the womb.
Dr. Fernandez believes that due to the positive results of the test that she and her team conducted, as well as the test conducted by other research teams, genetic testing of autistic children will start to increase exponentially in the upcoming years.
She also stressed that doctors will be able to provide better care for these patients once the test become widespread, because they will understand the condition of their patients on a genetic level. She mentioned that studying the genes of children with autism may reveal that they are predisposed to obesity or type 2 diabetes.
Mathew Pletcher, head of genomic discovery and vice president of Autism Speaks, offered an example of his own informing that other autism related genes have the potential to make children more vulnerable to experiencing seizures.
He said that “With that knowledge, now you can start to plan for, prescribe for and treat for those [pending] health issues”.
Dr. Fernandez described these dual genetic tests as “two (2) very comprehensive tests that haven’t been around for too long”. They are whole-exome sequencing and chromosomal microarray analysis.
Chromosomal microarray analysis looks at a person’s chromosomes and identifies any hidden abnormalities. It’s already recommended as an early genetic test for patients with autism.
Whole-exome sequencing looks at the protein-encoding side of a person’s genes in order to identify potential disease-causing anomalies. For now, this test is mostly used by researchers.
For their study, the researches used the two (2) tests to examine 258 unrelated children who had been diagnosed with autism spectrum disorder. The average age of the subjects was 4.5 years.
Each test on its own was able to identify an almost equal number of potential genetic risk factors of autism – around 9 percent (9%) in the case of chromosomal microarray analysis, and 8 percent (8%) in the case of whole-exome sequencing.
But when the research team combined them, the number of potential genetic risk factors that they identified rose up to almost 16 percent (16%), and then turned into almost 38 percent (38%) once the experts started taking into account subtle physical signs (differences seen in the creases of the palm, oddly shaped ears) that hinted at developmental problems.
And Dr. Fernandez stressed that the efficiency of these tests will only increase in the near future.
The findings were published earlier this week, on Tuesday (September 1, 2015), in the Journal of the American Medical Association.
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