Dual genetic tests may be best way to diagnose autism: Study

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Wednesday 02 Sep 2015 - 13:53 Makkah mean time-18-11-1436 Google image Ottawa (IINA) – A new Canadian study suggests the use of two newer genetic tests may be used to help better diagnose autism. The symptoms displayed by those who have the disorder vary, leading to the use of the term autism spectrum disorder (ASD). Doctors have traditionally relied on various standardized tests, including observation of how a child learns, to make an ASD diagnosis. But scientists believe the best confirmation may be in a child's DNA. In a study published Tuesday in the Journal of the American Medical Association (JAMA), researchers from Toronto's Hospital for Sick Children found that the use of two diagnostic tests may help identify the genetic mutations potentially linked ASD. The study involved more than 250 unrelated children with a suspected ASD diagnosis, who showed outward signs of the disorder early in life. According to Canadian CTV News, researchers used two genetic tests in the study: Chromosomal microarray analysis (CMA), which scans a child's DNA for more than 100 genetic errors linked to ASD; and Whole-exome sequencing (WES), a more extensive test that searches for small imperfections. All the children underwent CMA, while 95 also underwent WES. The study found that when used individually, the tests identified ASD in approximately eight percent of the children. The CMA showed 9.3 percent of children had genetic mutations that could explain their autism, while the WES found 8.4 percent of children had mutations could explain their disorder. When the tests were used together, however, twice as many children received a molecular diagnosis. "Sixteen percent of the children had an ASD-related genetic finding," said Dr. Bridget Fernandez, with Memorial University of Newfoundland. According to autism advocates, the use of both tests may allow for improved care in the future. AB/IINA