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Aurora magazine

Autism spectrum disorder: new genetic cause identified

It is part of a new project for collecting genetic data linked to autism. The study involves 100 families with at least one autistic son. Family members are subjected to genetic testing to detect genetic mutations linked to autism. Research is conducted by Paola Visconti, head of the Autistic Spectrum Disorders Symposium at the Institute of Neurological Sciences in Bologna.

New technologies have simplified the diagnosis of autism. Genetic screening can help identify abnormalities that are common to 25% of cases of autism. It is also a fundamental tool for studying possible causes that can be detected in the remaining 75%. This second group of subjects are at the center of the study in question, which began in 2016 and is still in progress.

Researchers are assessing the blood samples of members of the 100 families involved. By analyzing DNA, they analyze the molecular karyotype, nuclear DNA and mitochondrial DNA. In this way they aim to identify genes related to the development of mimicry, motility and verbal production.
Despite efforts, researchers struggle to identify a specific biomarker for autism. Many therefore point to identifying the small anomalies that might be the cause of the disease. Parents' examination is therefore crucial, either to find inherent genetic factors, and to identify any environmental factors that may occur during pregnancy.

It's still early to talk about a prenatal screening test for autism. The study, however, seeks to better understand the root causes of the disease. Each discovery facilitates both the diagnosis and the search for new treatments.