English Review
Discovery of genetic variants related to Autism Spectrum Disorder in Vietnamese children
04:09 PM 2024-03-08
(LĐXH)-Scientists have identified genetic mutations associated with Autism Spectrum Disorder (ASD) in Vietnamese children. According to Nature.com, the study examined the genes of 250 autistic children at Hue Central Hospital to identify mutations associated with the disease or the severity of its symptoms.
Genome analysis is conducted by the NIC Genetica laboratory, located at the Ministry of Planning and Investment's headquarters and meeting international standards CLIA. 23 gene mutations were analyzed and discovered, of which some are closely related to autism spectrum disorders (ASD), such as SLCO1B1, ACADSB, TCF4, HCP5, MOCOS, SRD5A2, MCCC2, DCC and PRKN. Other mutations may be associated with autism or other neurodevelopmental disorders. This study contributes to the development of diagnostic, preventive, and early intervention solutions for autism spectrum disorder as well as early-stage neurodevelopmental disorders in children.

Ảnh minh họa (Nguồn: Unplash, Free Stock) 

"Detecting autism at an early stage is extremely important, especially during the 'golden development' phase from 6 months to 3 years of age," said Dr. Bui Thanh Duyen, Co-Founder of Genetica and PhD in genetics and molecular biology at Cornell University, New York. Infants and toddlers cannot be assessed using clinical assessment methods such as the Diagnostic and Statistical Manual of Mental Disorders (DSM). 
Moreover, some autism symptoms overlap with those of other developmental disorders, such as language disorders and delayed development, making a diagnosis and selecting a study population more challenging. In addition, cultural, economic, and social differences in Asian populations in general, and Vietnam in particular, affect the awareness of parents regarding autism spectrum disorder in their children. 
Therefore, diagnosing autism in children requires comprehensive coordination with other methods, including genetic testing. Our years of experience in genetics in Vietnam have given us a keen understanding of the importance of of the urgency of a study to identify genetic mutations in Vietnamese children, in order to support clinical physicians in diagnosing and early detecting the risk of autism in children as well as the hereditary potential for autism within Vietnamese families". 
Autism spectrum disorder is a developmental disability that can cause significant challenges in social interaction, communication, and behavior. Children with autism spectrum disorder have difficulties in communication and social interaction. They also exhibit repetitive behaviors, interests, and activities. Many studies have shown that the causes of autism include both genetic and environmental factors. 
The World Health Organization estimates that 1 in every 100 children has ASD, with a higher prevalence in males. In 2018, researchers in the United States estimated that 1 in every 44 children at the age of 8 has ASD. Among Americans of Asian descent, the prevalence of ASD is increasing due to the community's growing awareness of this disorder. It is estimated that the prevalence of ASD in East Asia is 0.51% and is likely to increase over the years. 
In Vietnam, Genetica, a genetic testing company from the United States, provides early assessment testing for autism risk. Using just a saliva sample, Genetica helps assess the genetic risk of autism even before clear clinical behavioral signs are evident, aiding in the diagnosis of autism during the crucial period before the child turns 3 years old. Over 100,000 people in Vietnam have used Genetica's services. 
On April 5, 2024, Genetica will collaborate with doctors from Hue Central Hospital to organize a webinar titled "Discovering New Insights from Genes for Diagnosing and Early Intervention in Autism." Register to participate here: https://s.net.vn/7DCF./.
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