A French study observed the presence of genetic variants implicated in autism within the undiagnosed general population.
- About 700,000 French people are affected by autism spectrum disorders, according to Inserm.
- The first genes associated with autism were identified in 2003.
- Genetic variants linked to autism have been identified in 1% of the general undiagnosed population.
Autism spectrum disorders are manifested by difficulties in establishing social interactions and communication, behavioral abnormalities and a tendency to repeat behaviors or speech. These disorders are due to neurodevelopmental abnormalities, and affect nearly 700,000 people in France.
A study aimed at better understanding the “genetic architecture of autism”
In 2003, the first genes linked to autism were discovered by Professor Thomas Bourgeron at the Institut Pasteur. Currently, more than 200 genes have been identified. For better “identify the genetic architecture of autism”, And “what modulates the intensity of its manifestations“, researchers from the Institut Pasteur, the CNRS, the Institut Universitaire de France, the Université Paris Cité and the AP-HP have carried out a major comparative study. This work has been published in the journal NatureMedicine.
For the purposes of this research, the scientists compared the data of 13,000 people affected by an autism spectrum disorder with those of 180,000 adults from the general population. They focused on rare variants in a list of 185 genes strongly associated with autism. “As these are rare genetic variations, each of which affects only a few percentages of people with autism, we first had to gather data from a large number of individuals. The original idea, then, was to look for the presence or not of these variants in the general population – that is to say in people without a diagnosis of autism – to see if they had an effect and if so which”, explained Thomas Rolland, CNRS researcher in the Human Genetics and Cognitive Functions Unit at the Institut Pasteur, in a statement.
Genetic variants linked to autism identified in 1% of the general population
The study authors observed the presence of these variants in 4% of people affected by autism, but they also found them in 1% of undiagnosed adults. According to the results, these people also had lower cognitive performance correlated with a lower socioeconomic level.
“What we observe with these variants is only the tip of the iceberg, since they account for only a few percent of identified cases of autism. The architecture of autism is very complex and the environment, in the broad sense, plays a crucial role in the intensity of the symptoms and the quality of life of the person. This is why we must have a global approach, which takes this environment into account. this condition that we will identify the factors that modulate the occurrence and intensity of the difficulties encountered by people with autism and that we will be able to define effective and personalized support programs”underlined Professor Thomas Bourgeron, co-author of the study.
