Genetic Aspects of the Autism Spectrum Disorder

Autism Soccer - Soccer training for kids with special abilitiesAutismGenetic Aspects of the Autism Spectrum Disorder

Scientists have always thought that genetic aspects play an essential role in autism, but some agree that most diagnoses have an environmental origin. Recent research by specialists in the field of ASD predicts that genetics can be the cause of up to 90% of cases, and environmental problems also intervene, but to a lesser extent.

What does genetics mean for researchers?

The National Institutes of Health define a gene as:

“The basic physical and functional unit of inheritance. Genes, which are made up of DNA, act to produce molecules called proteins. In humans, genes vary in size from a few hundred DNA bases to more than two million bases. The Human Genome Project has estimated that humans have between 20,000 and 25,000 genes.”

These genes are very similar between one person and another, and even 1% of our DNA defines an individual and their particular characteristics. That is what makes us unique.

It is no secret to anyone that genetics causes physical and mental impact. This is because genetic changes or spontaneous mutations can occur (without a specific origin), or due to the result of exposure to the environment.

Autism researchers analyze the development of genetics to answer several questions that do not yet have an accurate answer:

  • To what extent is autism a condition inherited from parents?
  • To what extent does autism occur due to spontaneous changes in genes that are not inherited?
  • What are the genes or set of determining genes for a person to be autistic?
  • What changes in individual genes cause autism?
  • What is the relationship between autism and genetic disorders?
  • Are the genes responsible for different types of autism different?
  • What is the relationship between the environment and the genetic changes that lead to autism?

What information do we have about autism and genetics?

To date, many of these questions are a mystery to science. For this reason, a variety of studies are needed to keep moving forward, because they do not have an infallible answer.

It is not known whether combinations in genetic changes can cause autism, nor is it known whether genetic changes in any way lead to a high or low level of this condition. In addition, there are still doubts about the probability that it is an inherited condition. Another question is to know if gene therapy could have positive effects on people with ASD.

But there is information that we do know. For example, ASDs are born without an inheritance pattern. People with a family history associated with autism are at greater risk of developing this condition.

Any genetic alteration can generate an effect and when there is a lot of variability in the genes it can be linked to other environmental risk factors such as the age of the parents, complications during pregnancy and others that have not yet been discovered, and these can increase the level of a person’s risk of developing this condition.

Autism researchers think that 2 to 4% of people with autism have genetic mutations or chromosomal abnormalities that cause the disorder.

Even the resulting signs and symptoms can affect various parts of the body.

According to scientists, up to 2500 different genes could be related to autism. This figure was discovered using advanced technology, and it means that autism is a condition of great complexity.

Genetics and environment

There are environmental elements that, when linked to the genetic factor, can cause the appearance of various types of autism.

According to the National Institute of Environmental Health Sciences, certain environmental factors increase the risk of autism, but it is not certain that they are determinants in the development of ASD.

  • Advanced age at the time of conception.
  • Exposure during pregnancy to pollutants or toxic agents.
  • Diabetes.
  • Being overweight.
  • Low birth weight.
  • Problems at birth: lack of oxygen to the brain or any other prenatal limitation.
  • Poor prenatal nutrition.

How could any of these factors affect genetics?

This question remains a riddle for researchers; however, studies continue.

Environmental factors are not determining, because many elderly parents have neurotypical children, and there are premature children without this condition.

Now, children with a genetic risk of autism can develop the condition by undergoing the environmental factors described above.

Genetics or environment?

Several studies in 2017 showed that most of the causes are genetic. These are the most relevant results:

  • Autism spectrum disorder (ASD) is added in families, and studies with twins estimate that the proportion of phenotypic variation due to genetic factors (heritability) is approximately 90 percent.
  • The heritability of ASD was estimated at 0.50, and the family environmental influences shared at 0.04.
  • The incidence of ‘inherited’ autism was approximately 83 percent, while the non-shared environmental influence was estimated at 17 percent.

Apparently, most people inherit autism. These results are transcendental for the treatment and prevention of autism with gene therapy in the future to help those families with people with autism.


girl and molecule model

Our DNA can define who we are and what is our personality, including certain conditions such as ASD.

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