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Is autism genetic?

Is autism genetic?

Navin Khosla NowPatientGreen tick
Created on 12 Jun 2024
Updated on 16 Jul 2024

Autism spectrum disorder (ASD) is a developmental disorder that has captivated the scientific community for decades. As researchers dive deeper into the underlying causes of autism, the role of genetics has emerged as a crucial area of investigation. The question of whether autism is primarily genetic has been the subject of extensive research, let’s delve into this topic.

The genetic influence on autism

Numerous studies have shown that autism tends to run in families, suggesting a strong genetic cause. A meta-analysis of twin studies has revealed that 60 to 90% of the risk for developing autism can be attributed to one’s genome. This finding highlights the significant role that genetic factors play in the cause of ASD.

Researchers have found some genetic variations and mutations linked with an increased risk of autism. These genetic changes can change various aspects of brain development and function, such as affecting how brain nerve cells (neurons) communicate with each other, synaptic formation, and the regulation of gene expression. While some of these genetic factors are associated with specific genetic disorders, like Rett syndrome or fragile X syndrome, the majority of autism cases are believed to involve a complex mix of genetic alterations such as copy number variations (CNVs), deletions or duplications.

The heritability of autism

If a parent has a child with autism, the likelihood of having another child with ASD is significantly higher compared to the general population. This increased risk within family members suggests a strong heritable side to the disorder. Additionally, studies have shown that if one identical twin has autism, the other twin has a much higher chance of also being diagnosed with the condition compared to non-identical twins.

The role of environmental factors

While the genetic nature of autism is well-established, it is important to recognize that environmental influences also play a role in the disorder.

Environmental risk factors

Certain environmental factors have been identified as potential contributors to the risk of developing autism. These include advanced parental age, prenatal exposure to air pollution or certain pesticides, maternal obesity, diabetes, or immune system disorders, as well as birth complications leading to periods of oxygen deprivation in the baby’s brain. However, it is important to note that the presence of these environmental factors does not necessarily mean autism will occur but may interact with genetic influences in complex ways.

Genetics and environment

Autism is increasingly understood as the result of a mix of genetic and environmental factors. While certain genetic variations may increase the risk of ASD, the actual expression of the disorder is often influenced by environmental exposures and experiences.

Genetic testing and personalized treatment

The growing understanding of the genetics of autism has led to genetic testing as a valuable tool for individuals and families affected by the disorder. Genetic testing can provide valuable insights into the specific genetic factors contributing to an individual’s autism, potentially revealing genetic mutations linked to conditions, such as epilepsy.

Genetic testing can offer several benefits for individuals with autism and their families. By identifying the genetic factors underlying a person’s autism, healthcare providers can better understand the condition and tailor treatment accordingly.

With the insights gained from genetic testing, healthcare professionals can develop more targeted and personalized interventions for individuals with autism. This may involve tailoring therapies, medications, or educational approaches to address the specific needs and challenges associated with an individual’s genetic profile.

What does not cause autism?


One of the most persistent and damaging myths surrounding autism is the alleged link between vaccines and the condition. This was initially sparked by a now-discredited study from the late 1990s, which the scientific community has thoroughly discredited. A comprehensive review by the Institute of Medicine in 2011 found that, with rare exceptions, the vaccines given to children and adults are overwhelmingly safe. Furthermore, a 2013 Centers for Disease Control and Prevention (CDC) study conclusively demonstrated that vaccines do not cause autism.

Parenting style

Another outdated and harmful belief is the notion that “refrigerator mothers” cold, distant parents lacking in maternal warmth are responsible for their children’s autism. This myth, which gained popularity in the 1950s, has been thoroughly debunked by experts. The consensus among researchers is that there is no compelling scientific evidence linking parenting style to the risk of autism.


Many parents of autistic children have found that placing their child on a specialized diet, such as one that is gluten- or casein-free, can be beneficial. However, this does not necessarily mean that the child’s autism was caused by their previous dietary habits. Autism research suggests that autistic children on restricted diets may have greater nutritional deficiencies than those on unrestricted diets. While dietary changes can help manage certain symptoms, there is no solid evidence to support a causal link between diet and the development of autism.

By understanding and debunking these myths, we can shift the focus towards a more constructive discussion around autism, ultimately leading to better outcomes for individuals and families affected by this complex disorder.


Autism is increasingly understood as the result of genetic and environmental factors. While certain genetic variations may increase the risk of ASD, the actual expression of the disorder is often influenced by environmental exposures and experiences. By using the insights gained from genetic testing and research, healthcare professionals can work to improve the quality of life and overall outcomes for individuals with autism and their families.


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