Good news for autistic children

Article by Dr. Tran Trung Kien - Vinmec Institute of Stem Cell and Gene Technology

Autism, also known as autism spectrum disorder, is a disorder that appears early in children with typical clinical manifestations such as repetitive behaviors, deficits in social and language skills. 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, and system problems. digestion, anxiety...etc.

The reported prevalence of autism varies across countries and groups of people. In the US, one in 59 babies is born with autism. It is estimated that people with autism make up about 1% of the population. In Vietnam, there are currently no accurate statistics on the prevalence of autism in the community. However, it is noted that the number of children with autism is increasing and autism is a burden on families and society.

Faced with that fact, Vinmec Research Institute of Stem Cells and Gene Technology, under the chairmanship of Prof. Dr. Nguyen Thanh Liem has been conducting research on genetic traits on Vietnamese children with autism since 2016. The research team's efforts have been rewarded with a scientific publication in the prestigious scientific journal Scientific Reports of Nature Research journal system in March 2020 (article link: https://www.nature.com/articles/s41598-020-61695-8).
This is an elaborate genetic study on Vietnamese children with autism with important findings on genetic characteristics and genes related to autism. The study was carried out by sequencing the genomes of 100 children with autism and 200 parents.

Research results show that the frequency of boys with autism is 5 times higher than that of girls. This result is consistent with previous studies around the world on the difference in autism prevalence between men and women. The study found 17 genes that carry genetic variation in children with autism. Among them, a number of autism risk genes have been widely recognized in the world such as CHD8, DYRK1A, GRIN2B, SCN2A, OFD1 and MBD5 genes. More specifically, the research team found 6 genes carrying genetic variation that have not been recorded before, including genes: CHM, ENPP1, IGF1, LAS1L, SYP and TBX22.
This study has pioneering significance in genetic research in children with autism, and is the foundation for further research towards the development of testing methods for autism screening, diagnosis and treatment. century in the future. Along with the research work on the Vietnamese genome published in the journal Human Mutation in 2019, this is a new contribution to the field of genetic research by scientists from the Institute of Stem Cell Research and Gene Technology. Vinmec.