Genetic History: A Serious Risk Factor Of Autism

While debates go on to find the real reason behind autism, this developmental disorder has been seen to cause a lot of stress to families who have at least one autistic member. Environmental causes have always been attributed to the development of autism, but according to new research published in “Nature Genetics”, autism is also a result of genetic mutation.1

What Is Autism?

Autism, also known as autism spectrum disorder, refers to a developmental disorder that negatively affects the ability to communicate. It is a range of conditions that are characterized by challenges faced with social skills, verbal and nonverbal communication, repetitive behavior, and by having unique strengths and differences.2 Autism is generally caused by both genetic and environmental influence, but genetic influence has been found to be the most common reason behind this disorder.

Was The Study All About?

A study was done by a group of researchers including Joseph Buxbaum who was one of the lead authors of the study and a researcher at the Mount Sinai School of Medicine. Using Swedish Health Registry, a comparison was done between two groups of people. The first group comprised of 3,000 people who were suffering from autism and the second group comprised of 3,000 people who were not suffering from autism. The study tried to determine the degrees that spontaneous mutations and common and rare genes contributed to the risk of autism. The researchers also tried to compare the results with a parallel study done on 1.6 million Swedish families that were identified with specific genetic risk factors.3

Were The Results?

The study found out that 52 percent of the risk of autism came from the presence of common genes, and only 2.6 percent of the autism cases were a result of spontaneous mutations caused by environmental factors, among others.4

Buxbaum said that the presence of these common genes can only determine the risk of autism, and it cannot tell if the condition will certainly develop. Although spontaneous mutations accounted for only a small percentage of the risk of autism, their effect is still considered to be significant.

According to Buxbaum, the risk of autism might be attributed to all the common variants as part of the background risk, but this genetic history is a major factor that needs to be discussed about. Another autism researcher, Chris Gunter at the Marcus Autism Center and Professor at the Emory University School of Medicine, said that the findings of the study were quite similar to those reported in other studies conducted on autism. Gunter said that there is no specific gene for autism, and instead of that, there are many different genetic variations that contribute a little bit of risk each to develop the group of symptoms that are together called autism.


said that once scientists start accumulating more data on autistic patients, there can be new researches done to find out a “risk score” that can help us identify the amount of risk of developing autism. If this is done, certain preventive measures can also be found out to help in the prevention of autism.

Autism can terribly break down the confidence of a family and surely needs to be taken care of. Instead of harming the self-confidence of autistic patients, these people must be taken special care of to make them feel normal in this fast-paced world. Autism is not a disease; it is just a disorder and people should remember that. It is of utmost importance that autistic patients are treated with love and care and are helped to understand and communicate with the world in a better manner by finding out effective and interesting ways.