Is Autism Genetic?
Updated on March 18, 2024
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Is Autism Genetic?
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Is Autism Genetic? 5

Yes, to a degree. Autism, also called autism spectrum disorder (ASD), is a complex condition that affects brain development. It often has genetic causes.

However, genetics arenโ€™t the only reason behind it. A recent study published in 2019 estimates that:1

  • 20 percent of diagnosed autism isnโ€™t genetically influenced
  • Environmental risk factors โ€œcontribute minimallyโ€ to autism

This means that while autism is usually inherited, both genetic and non-genetic factors increase a childโ€™s risk.

Moreover, there is no single gene that causes autism. Research shows that several gene variations or mutations related to brain development are linked to the condition.2

What is Autism Spectrum Disorder?

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that appears in young children as early as one to two years old.

People with this developmental disorder have a neurologic condition. This means that thereโ€™s something different about their nervous system compared to most neurotypical people.

Is Autism Genetic? 6

Neurodevelopmental disorders affect how people learn and apply information and skills. A person with autism tends to struggle with:

  • Social interaction       
  • Communication 
  • Repetitive behaviors
  • Intellectual disability

Autism can affect a personโ€™s ability to function at work, school, and in social environments. The severity of autistic traits can vary for each person.

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Is Autism Passed Down Genetically?

Yes. Autism can be genetically passed down from parent to offspring. If one or both parents have autism-causing genes, children can inherit them.

The latest genetic research suggests that children are more likely to inherit the autism gene from their father.2 While mothers pass half of their structural genetic variants to a child, fathers pass much more than 50 percent of their genetic mutations to children.2

Structural variants are DNA sequences that underwent major changes or mutationsโ€“such as duplication, deletion, or inversion. This increases the likelihood of passing the genetic risk for autism, along with other genetic disorders.

Sometimes, these mutations affect children and cause autism. However, a child can also inherit the same genetic variants or mutations without developing the condition.

Remember that environmental factors also play a role in autism development.

Sporadic Autism Spectrum Disorders

Not all autism disorders are hereditary. Others are sporadic or occur randomly.

Unaffected parents can still give birth to autistic children. In fact, half of these autism cases are caused by spontaneous mutations that are not present in the parent.3

Is Autism Genetic? 7

A spontaneous mutation can occur in the fatherโ€™s sperm or the motherโ€™s egg and increase a childโ€™s genetic predisposition for autism.3

A developing embryo may also undergo genetic changes when exposed to certain environmental factors before birth. During this time, they can develop the โ€œautism risk genes.”

What Are Other Causes of Autism?

Autism arises from both genetic influences and environmental factors. The following non-genetic factors are known to increase a childโ€™s autism risk:4

  • Conceiving at an old age
  • Exposing an unborn baby to certain pesticides or pollution
  • If the pregnant mother has obesity, diabetes, or immune system disorders 
  • Being born prematurely or with a very low birth weight
  • Difficult childbirth that deprives the babyโ€™s brain of oxygen

Why is It Important to Know Your Family Health History?

It’s important to know your family health history in order to identify any potential genetic disorders that run in your family. While many genetic disorders also come about by environmental factors, you still need to take any history into account.

When it comes to the inheritance of autism, it’s proven that autistic spectrum disorders tend to run in the family. If a family member has autism, itโ€™s likely that you have autism or will have an autistic child.

Doctors aware of this family history can screen everyone (including unaffected family members) and identify autistic individuals.

Is Autism Genetic? 8

Since affected children donโ€™t always show signs of autism, screening ensures they are diagnosed and treated as soon as possible. Children with autism may only exhibit signs later in life, and some of them may be mild and unnoticeable.

People who are planning a pregnancy or who are already pregnant can take this information to a doctor. The doctor will use it to determine your likelihood of having autistic children.

Take note that autism can also be a result of spontaneous mutations, so even if your family doesn’t necessarily have a history of autism, you should still be prepared and even consider genetic counseling to be sure.

How is Autism Diagnosed?

Doctors usually diagnose autism by looking into a childโ€™s history. They will check for signs of developmental delay and other autistic symptoms.

ASD can be diagnosed at 18 months old or even younger. However, a diagnosis by the age of two is usually considered more reliable.

In some cases, the doctor will continue to monitor the affected child and may not make a final diagnosis until they are much older. Unfortunately, this delay can prevent them from getting the support they need to reach their full potential.

How Genetic Testing Can Help

Children diagnosed with autism are often asked to undergo DNA testing.

The doctor might order a chromosomal microarray (CMA) to examine your chromosomes or a whole exome sequence test to look at your exomes.

Both genetic tests can identify genes involved in the development of autism.

You can take these results to a doctor or genetic counselor who can explain their meaning. They can use this information to help you decide on the next steps.

DNA tests can also check for other genetic conditions that may be causing your autism. Some examples include:

  • Fragile X syndrome โ€“ A disorder that affects 1 in every 200 people with ASD and causes intellectual disability
  • Rett syndrome โ€“ A disorder that affects 4 percent of women with ASD

This can help doctors determine the best treatment for your condition. These results can explain any difficulties they may be having, whether it’s their social behavior or any struggles in the classroom. These tests can ensure they get the help and support they need.

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Updated on March 18, 2024
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4 sources cited
Updated on March 18, 2024
  1. โ€œAssociation of Genetic and Environmental Factors With Autism in a 5-Country Cohort.โ€ Journal of the American Medical Association: Psychiatry.

  2. โ€œAutism spectrum disorder.โ€ Medline Plus.ย 

  3. โ€œAutistic children may inherit DNA mutations from their fathers.โ€ American Association for the Advancement of Science.ย 

  4. โ€œWhere does autism come from when it doesnโ€™t run in the family?โ€ LabDish Blog, Cold Spring Harbor Laboratory.

Ada Sandoval
Ada Sandoval
Content Contributor
Ada Sandoval is a B.S. in Nursing graduate and a registered nurse with a heart for abandoned animals. She works as a content writer who specializes in medical-related articles and pet health.