Study on gene mutation in autism patients in Vietnam

Research Hosting Organization: Vinmec Research Institute Stem Cell and Gene Technology

Principle Investigator: Prof. PhD. MD. Nguyen Thanh Liem

Period: 2017 - 2018

Introduction: Autism is a group of neurodevelopmental disorders with specific manifestations that are disorders of social interactions, limited communication and behaviors, limited interests, iterative Autism spectrum disorders (ADS) are common in children before 3 years of age, with a high prevalence of 1/80 to 1/110 children. Cognitive ability, social interaction and communication, social adaptability have serious implications for the future development of the child.
Studies in twins have shown that autism is highly likely to be a genetic syndrome with a 90% genetic rate in the same twins and 10% in the other twins. Studying in Utah in families with autism revealed a 8.6% risk of postnatal births, especially for families with two or more children with autism who were at risk for postnatal depression. up to 35%. Genetic causes of autism spectrum disorders can be divided as follows: Observed chromosomal abnormalities (5%), copy number variant (10-20%), Single gene mutation (5%), but still to 75-80% unknown cause. Recent studies have shown that autism spectrum mutations are very diverse, occurring in different chromosomal regions.

Today, autism is considered one of the great worries of parents. The statistics show that the incidence of autism is increasing dramatically. Typically in the United States, one in every 68 children has autism. It is estimated in the United States that the cost of caring for a child with autism is about $ 3.5 to $ 5 million. Including family expenses due to autism, the United States spends $ 90 billion annually.

In Viet Nam, there is no official data on the incidence of autistic children, however the number of autistic children diagnosed and treated in centers and hospitals has increased rapidly in the last ten years. According to research conducted by Nguyen Thi Huong Giang and colleagues at the National Children's Hospital for the period 2000-2007, 144 autistic children, accounting for 0.7% of the total number of children visited the hospital. More specifically, this study also found that the number of autistic children in 2007 was 50 times higher than in 2000. There are no studies in Viet Nam reporting autism. Identification of genes in the autism spectrum is important for diagnosing, prognosing, genetic counseling and prenatal diagnosis for families with autistic children. Therefore, it is necessary to build up the data of autistic spectrum typical of Vietnamese people so that it can be used as a basis for developing diagnostic procedures for autistic children, prenatal screening for families in need.