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Breakthrough in Genetic Testing Could Help Manage Autism

by admin on February 22, 2016

Genetic test enhances quality of care for autism in children


Two new, cutting-edge genetic tests show promise in helping doctors anticipate the nature of autism in newly diagnosed children. As a result, doctors and parents may soon be able to provide more targeted care for children with autism.

These new tests have pinpointed genes that may be able to explain the nature of a child’s susceptibility to autism. Broadly, the test is effective in around 16 per cent of all cases. However, when applied specifically to cases in which the child also displayed certain physical deformities, its effectiveness doubled.

The specific birth defects that amplify the test’s effectiveness are indicators that the child suffered developmental problems from an early age. In many cases, these problems will have begun in utero.

Dr Bridget Fernandez served as the senior study author that helped developed these genetic tests. She believes that they could be useful for identifying susceptibility to autism.

This test also shows promise in its ability to provide more targeted care based on specific genetic risks.

With a better developed understanding of which risk factors apply, doctors will be able to plan for and treat any health issues that are likely to manifest in the future.

These tests are relatively new to the medical community – and both are highly comprehensive. Here’s a quick breakdown of the two:

  • Chromosomal microarray analysis: looks for abnormalities in a person’s chromosomes as a first-level test for autism.
  • Whole-exome sequencing: Looks for disease-causing abnormalities in the section of a person’s genetic makeup that encodes protein.  

Each test offers about 8 per cent accuracy individually, but the reliability doubles when they’re used in tandem.

When these assessments are combined, specialists such as the team at Learning Discoveries should be able to design a much more personalised regimen of care where possible.

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Rosemary Boon

Registered Psychologist

M.A. (Psych),
Grad. Dip. Ed. Studies (Sch. Counsel),
Grad Dip. Ed. B Sc, Dip. Nut.

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