In the quest for tracing a genetic root for the development of autism, scientists have found success in two genetic tests. These tests can reliably diagnose autism subtypes that show discernable physical anomalies.
Genetic testing done to detect mutations common in children with autism
Published in the Journal of American Medical Association, the study used a genome-wide molecular testing regimen to detect genetic mutations that could offer a future diagnosis for the disorder. The tests were conducted on 258 unrelated children, who were diagnosed at two separate pediatric clinics at Newfoundland and Labrador in Canada. The children were divided into three groups based on their increasing severity of congenital and physical abnormalities: essential, equivocal and complex. Two tests called the chromosomal microarray analysis (CMA) and whole-exome sequencing (WES) were used to determine the chances of autism diagnosis in each group. CMA was conducted on all 258 participants, whereas WES was performed on 95 child-parent trios.
Genetic tests can predict the chance of autism recurrence in siblings
The genetic tests showed different rates of prediction for each autism subtype studied. In the microarray analysis test, a molecular diagnosis was possible for 9.3% of the participants. This number was 8.4% for the WES trio test, which shows that the predictive capacity for both tests was quite similar. The combined predictive prowess of the two tests was 15.8%. This means that the tests can diagnose the genetic root for autism roughly 16 out of every 100 cases. However, the prediction rate is better for certain autism subtypes. Those who had complex autism were diagnosed with a mutation in 24.5% of the cases with the CMA test and 16.7% with the WES test; that is a combined detection rate of 37.5%. This means that dual genetic testing could aid diagnosis of complex autism in siblings based on the clinical examination for physical anomalies in the current child.
Autism diagnosis has a helping hand with the advent of genetic tests
The diagnosis of autism spectrum disorders is not entirely understood and still relies heavily on the astute clinical observation of social, communicative and repetitive symptoms. Although experienced clinicians are able to reliably diagnose this set of disorders, none of the behavioral or cognitive measures are sufficient for stratifying these disorders to identify subtypes and recurrence in siblings. It is believed that the combination of the robust genetic testing and skilled clinical assessment could achieve in autism diagnosis, what neither technique could possibly predict with confidence.
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Genetic Tests Predict Certain Types of Autism
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