Genetic factors in autism spectrum disorder

The article was written by Dr. Tran Trung Kien - Genetic Research Specialist at Research Department - Vinmec
Stem Cell Research Institute and Gene Technology

Genetic factors play an important role in the pathogenesis of autism. Studies show that in about 25% of autism cases, a genetic factor can be identified. Some studies have shown that about 5-15% of children with autism carry CNV genetic mutations or non-CNV mutations in some genes related to neurotransmitter function.

Autism spectrum disorder is a disorder that includes clinical manifestations characterized by deficits in social skills, repetitive behaviors, and lack of or not even able to communicate and language.
In addition to the above-mentioned manifestations, children with autism may also have other clinical manifestations such as convulsions, seizures, disturbances in taste, sound, sleep, hyperactivity, decreased attention, problems with digestive system, often worry, restlessness...etc.
The reported prevalence of autism varies across countries and groups of people. In the United States, one in 59 babies is born with autism. In Asia, autism has not been well studied and is as prevalent in European or North American populations, and the reported frequency of autism is reported to vary widely between populations. It is estimated that autism accounts for about 1% of the population.

The specific cause of autism is still unclear. However, there is ample evidence that genetic, environmental, or genetic-environmental factors are the cause of autism. Although there are also reports indicating that socioeconomic conditions are also associated with autism incidence.
The rate of autism in boys is about 4 times higher than in girls. The difference in the ratio between men and women suggests that genetic factors play an important role in the pathogenesis of autism. There are some theories that because females carry more genes than males (females carry 2 X chromosomes, while males carry only 1 X chromosome), it is possible that females are less likely to be at risk. more autistic than men.
Studies have shown that about 25% of autism cases can be identified with genetic factors. Some studies have shown that about 5-15% of children with autism carry CNV genetic mutations or non-CNV mutations in some genes related to neurotransmitter function.

Studies on large samples with thousands of patients have found many genes and mutations associated with autism. To date, there are more than 1,000 genes that carry mutations believed to be associated with autism. In which, more than 100 genes are evaluated as genes that increase the risk of autism such as SHANK3, NLGN4, DLG2, RN3C2, DYRK1A, SCN2A...etc. These genes are almost all involved in neurotransmission.

Regarding the genetic mechanism, autism does not follow a Mendelian pattern of inheritance, i.e. monogenic or dominant or recessive inheritance in which the child receives each allele from both parents. Many mutations in people with autism are not found in parents or even identical twins (de novo mutations).
Not only that, mutations can be found in many genes, not just a single gene. Therefore, the pathogenesis of autism is complex and not clearly understood. However, more and more studies confirm genetic factors in the pathogenesis of autism.
Recently, Vinmec Institute of Stem Cell and Gene Technology has just completed a research project "Identifying genetic mutations in children with autism in Vietnam". This study discovered many genes that are known to be associated with autism and more specifically discovered some new genes that carry mutations in children with autism.
This is the largest and most elaborate study of genes on autistic children in Vietnam so far with important information on genetic traits. This study provides a reliable scientific basis for future autism screening/diagnosis, counseling and treatment.

Autism if not detected early and treated promptly will leave many serious consequences. As soon as a child or an adult shows signs of illness, you should bring the sick person to a medical facility for examination and treatment.