A unique test of its kind, which encompasses all the genetic alterations known today that cause Autism. In recent years, hundreds of reports in the literature have identified molecular disorders, each of which is responsible for a tiny percentage of cases of disorders of the autism spectrum (ADS).
This test, which can be performed on any biological tissue such as the child’s blood and saliva, making the most of the potential of genome sequencing through the Next Generation Sequencing method, has been able to enclose, in a single diagnostic sequence, all the deletions, duplications and single mutations hitherto held responsible for the very serious disorder, arriving to ascertain it in 20/25 percent of cases. This was announced in a press release by Claudio Giorlandino, Scientific Director of the Altamedica Research Center.
“A strong genetic component correlated to the diagnosis of autism is increasingly evident and demonstrated. It is estimated that 10-15% of cases of this disorder are caused by a deletion or duplication of a small region of DNA, while 8- 10% from single point mutations in specific autism genes.These DNA anomalies can be both hereditary, i.e. transmitted from one of the two parents, and de novo, i.e. originated at the level of the gametes in the parents of the affected subjects – states the scientific director of the Altamedica Research Center, recognized by the Miur, also teaching headquarters of the Institute of Genetics of the University of Tor Vergata – Our researchers have been working for over a year on this test of fundamental importance both as a support to pediatricians and geneticists to identify the genetic cause to confirm the diagnosis of autism and to help parents in conscious family planning”.
According to Giorlandino “the percentage of diagnoses will increase rapidly and it will be possible to search for the genetic mutations caused by this disorder even in the uterus by studying the amniotic fluid of pregnant women. This will be central to promptly intervene on the disorders that autism causes in behaviour, leading the child to a recovery that will be greater if it is diagnosed early and equally early if the rehabilitation intervention is implemented”.
“International epidemiological studies have reported a generalized increase in the prevalence of Autism. There does not seem to be a single factor that fully explains the increase in cases of Autism in recent decades, but there are several theories. At first glance, this phenomenon seemed to refer recognition and diagnosis of autism than ever before, but more recent observations and studies suggest that there may be environmental or genetic factors on male or female gametes contributing to this rapid surge in cases. more frequent in male children can give rise to the suspicion that these pathogenic noxae can cause errors predominantly, but not exclusively, in the spermatozoa compared to the oocytes”, concluded Claudio Giorlandino.