NEW TECHNOLOGY IN AUTISM DETECTION

Accoding to recent studies, a new type of genetic tests to detect abnormalities in children genes that lead to autism is said to be more accurate than standard tests that have been used before.

In this study, experts give three choices of tests on 933 people aged 13-22 years who had been diagnosed with autism. The three types of tests are, the G-banded karyotype test, chromosomal microarray analysis (CMA), and fragile X testing. Those three test is a type of test that is widely used.

Karyotype tests identify aberration chromosome associated with autism as much as 2 percent, while the fragile X genetic mutations found in 0.5 percent of patients. While CMA successfully detect chromosomal abnormalities more than 7 percent of the patients. Differences significant results was assessed to have greater levels of accuracy. Therefore, the experts suggested that CMA became the first test to determine the syndrome of autism in children.

The purpose of the genetic tests done on autistic children is to help parents determine will they have a child who is also autistic or not if their get pregnant again.

If the tests find abnormal chromosomes in the child, parents also need to do tests. If you found the abnormal gene, could be concluded that it is a high-risk that the parents will have children with autism again. However, if you find normal gene, there may be some duplication, so the risk of having autistic children is lower.

“In most cases, we believe there are at least a genetic predisposition to the occurrence of autism, but the ability of existing tests to identify specific genes is difficult because the technology does not exist. In addition, experts generally are not able to determine precisely the genetic mechanisms which trigger autism, “said Dr. Robert Marion, children geneticist from Montefiore Medical Center, New York, United States.

Today the practical standard to test whether a child suffers from autism are two types of genetic tests, karyotype and fragile X testing, which has been known since the 1960s.

Like karyotyping, CMA also sees an abnormal chromosome, but 100 times more accurate. CMA can recognize DNA duplication submicroscopic called re-number variants associated with autism.

Chromosome can be compared in a library and each book is his genes. “What we are looking for is a book which has a missing cover which describe the loss of an extra chromosome or chromosomal fragment containing the gene with autism,” said Dr. David Miller, a genetic expert.

Even so, there are still many things that can not be revealed by genetic experts. As many as 10-15 percent of cases of autism are not derived from a genetic disorder. Everything is still mysterious.