Autism and genetics: Towards a Reliable Diagnosis of Autism

The genetics of autism is a promising area of clinical study, with an important projection in the health sector.

Today it is still difficult to determine the exact cause of autism. It is a disease that is more prevalent in boys than girls, increasing the number of children diagnosed during the last two decades.

Now, the genetics of autism has greatly improved the diagnosis of this disease. An investigation with twins in the United Kingdom suggests that genes are important in the onset of autism.

This discovery does not imply that genes are a direct cause of autism, but that they have greater impact on the disease to other factors.

In fact, the study reflects an estimated heritability that would be around 56 and 95%.

The genetics of autism: a complex study


Hundreds of genes are involved in disease, but environmental factors are also fundamental to the development of autism (even before the birth).

The genetics of autism is a really complex study in which many researchers are participating. Some scientific research suggests studying the combination of genetics with the environmental factors that can alter the expression of these genes.

Currently, the research conducted by Dr. Francesca Happe demonstrates an interesting fact. While many parents and families are concerned by certain factors such as pollution, chemicals, etc. this study suggests that the impact of the environmental factor is less than genetics.

Then, why today has it increased the number of people affected by autism? In principle, it might be only a social perception. 

The increase in diagnosed children would be related to the increase of awareness of the disease. People who used to be considered with learning problems, would have become autistic due to the massive improvements and refinements in the diagnosis.

However, while the genetics of autism is still a complex study area, DNA assays for the diagnosis of patients (microarrays and mass sequencing), allow evaluating the disease at an early stage.