Causes

All About Autism

Autism Spectrum Disorder (ASD)

What do we know?

We understand that there isn’t just one cause of ASD. Research indicates that ASD is mostly linked to genetics. However, there are also other factors that are not related to genetics, like things in the environment.

Now, scientists can find genetic differences that lead to ASD in almost one out of every five individuals with autism.

1 in 36

children

+ 0 K

more prevalent in boys than in girls

Genetics

The Genetic Causes of Autism

Like most common human brain disorders, autism spectrum disorder (ASD) has a strong genetic component. UCLA CART scientists have led the field of ASD genetics for more than two decades. Advances in genetics have changed the understanding of the underlying biological basis of ASD.

The term genetic means that a feature or trait is influenced by your DNA. Your DNA contains many genes, which carry instructions for your body to function. 

In most cases, this influence is passed down from parents to children through DNA. The genes that you inherit from your parents can influence how you look, for example your eye color or height, and genes can also impact your chance of developing a disorder, such as autism. 

In other cases, there may be a mutation, or a change in the DNA that occurs while the sperm or egg is developing. In this case, the parents do not have the mutation in cells in their body, but their child does.

See image below for an example:

 

For more details – refer to this review

In the case of de novo, neither of the parents has the change but the change has occurred in the egg [show picture]

We get half of our genes from our mother and half of our genes from our father. Each sperm and egg contain one set of 23 chromosomes. When the sperm and egg combine during fertilization, an embryo is formed with a set of 46 chromosomes, or 23 pairs – half from the mother and half from the father. It is this unique mixing of chromosomes during fertilization that gives everyone a unique set of traits and features.

When people say that autism is genetic, or involves genetic factors, they mean that it is in the DNA. In most cases, this means that ASD can run in families and is related to genes that are passed down from parents to children. This means that if one family member has autism, there may be an increase in the chances that other family members, such as brothers and sisters, also develop autism.

The term genetic means that a feature or trait is passed down from parents to children through DNA. Your DNA contains many genes, which carry instructions for your body to function. The genes that you inherit from your parents can influence how you look, for example your eye color or height, and genes can also impact your chance of developing a disorder, such as autism.

We get half of our genes from our mother and half of our genes from our father. Each sperm and egg contain one set of 23 chromosomes. When the sperm and egg combine during fertilization, an embryo is formed with a set of 46 chromosomes, or 23 pairs – half from the mother and half from the father. It is this unique mixing of chromosomes during fertilization that gives everyone a unique set of traits and features.

When people say that autism is genetic, they mean that it can run in families and is related to genes that are passed down from parents to children. This means that if one family member has autism, there may be an increase

Yes, autism has a large genetic component, which means that genes play a big part in determining if someone has autism. The instructions in our genes are important for guiding how our brains develop. Many of the genes linked to autism impact the development of brain cells and their connections, which can in turn impact the ways that we think and act. But genes don’t tell the whole story – environmental factors also work together with our genes to influence the chances that a person will develop autism.

There are several different types of research studies that have helped scientists and doctors to understand the genetic basis of autism. Using these methods, researchers have found that autism is highly heritable, meaning that the genes that we inherit from our parents impact our likelihood of developing ASD.

 

  • Family-based studies look at families where one or more children have autism to see if other children in the family (for example, siblings or cousins) are also more likely to have autism. These family-based studies have found that having an older sibling or cousin with autism increases the likelihood that a child will have autism. There is an 8-10 times greater risk of a child having autism if they have an older sibling with autism, and 2 times greater risk of having autism if a cousin has autism. Family-based studies have helped us to understand the rates and patterns of autism within families. Because autism occurs more often in siblings and cousins, this tells us that genes play a large role in ASD.

 

  • Twin studies compare the rates of autism in identical (monozygotic) and non-identical (dizygotic) twins. Identical twins share 100% of their DNA, while non-identical twins share 50% of their DNA, just like siblings. By comparing the rate of autism in identical versus non-identical twins, scientists can study the impact of genetics. For example, if autism is more likely to occur in two identical twins compared to two non-identical twins, this suggests that that genetics is playing a role since identical twins share more of the same DNA. A pair of twins is said to be concordant for autism if they both have autism, and discordant if one twin has autism and the other does not. Previous twin research has found that identical twins have a roughly 90% concordance rate while non-identical twins have a roughly 30% concordance rate. Altogether, this suggests that genes influence the development of autism.

 

  • Population-based studies look at very large groups of people to identify genetic variations that are linked to autism. For example, researchers have used genome-wide association studies (GWAS) to search through the entire genome to find specific genetic variations linked to autism. To do this, scientists have collected genetics data (for example, saliva samples) from many thousands of autistic and non-autistic people and looked to see whether there are certain genetic variations that are found more often in people with autism compared to people without autism. These studies have found that in most cases of autism, there is not a single gene that has a big impact on increasing risk. Instead, genetic risk for autism comes from the combined impact of many hundreds of genetic variants, with each individual genetic variant by itself having a very small effect. These small genetic variations, called single nucleotide polymorphisms (SNPs), are very common and add together to increase the likelihood that a person will have autism.

 

  • Trio studies involve comparing the genetics of 3 people in a family: a child and their biological parents. These studies help us to understand non-heritable genetic variations that can also influence the likelihood of ASD. For example, de novo mutations are changes in the DNA sequence that appear spontaneously in a person and aren’t passed down from their parents. These non-inherited genetic mutations can occur in the parent’s egg or sperm during fertilization and are found in the autistic individual but are not found in the biological parents. Trio studies have also been used to identify copy number variations (CNVs) linked to autism, which are changes in the number of copies of a section of DNA. CNVs can be small or large, spanning multiple genes, and can either involve gene duplications (where there are extra copies of a DNA segment) or deletions (where DNA is missing).

 

 

Explore UCLA CART’s research opportunities and join a research project today.

Do you have questions about genetic testing for autism?

Link to Knowledge portal

Make sure Patty answers following questions in the portal.

Neuroimaging

The Brain's Role: Understanding the Causes of Autism

The term genetic means that a feature or trait is influenced by your DNA. Your DNA contains many genes, which carry instructions for your body to function. 

In most cases, this influence is passed down from parents to children through DNA. The genes that you inherit from your parents can influence how you look, for example your eye color or height, and genes can also impact your chance of developing a disorder, such as autism. 

In other cases, there may be a mutation, or a change in the DNA that occurs while the sperm or egg is developing. In this case, the parents do not have the mutation in cells in their body, but their child does.

See image below for an example:

For more details – refer to this review

In the case of de novo, neither of the parents has the change but the change has occurred in the egg [show picture]

We get half of our genes from our mother and half of our genes from our father. Each sperm and egg contain one set of 23 chromosomes. When the sperm and egg combine during fertilization, an embryo is formed with a set of 46 chromosomes, or 23 pairs – half from the mother and half from the father. It is this unique mixing of chromosomes during fertilization that gives everyone a unique set of traits and features.

When people say that autism is genetic, or involves genetic factors, they mean that it is in the DNA. In most cases, this means that ASD can run in families and is related to genes that are passed down from parents to children. This means that if one family member has autism, there may be an increase in the chances that other family members, such as brothers and sisters, also develop autism.

Yes, autism has a large genetic component, which means that genes play a big part in determining if someone has autism. The instructions in our genes are important for guiding how our brains develop. Many of the genes linked to autism impact the development of brain cells and their connections, which can in turn impact the ways that we think and act. But genes don’t tell the whole story – environmental factors also work together with our genes to influence the chances that a person will develop autism.

There are several different types of research studies that have helped scientists and doctors to understand the genetic basis of autism. Using these methods, researchers have found that autism is highly heritable, meaning that the genes that we inherit from our parents impact our likelihood of developing ASD.

 

  • Family-based studies look at families where one or more children have autism to see if other children in the family (for example, siblings or cousins) are also more likely to have autism. These family-based studies have found that having an older sibling or cousin with autism increases the likelihood that a child will have autism. There is an 8-10 times greater risk of a child having autism if they have an older sibling with autism, and 2 times greater risk of having autism if a cousin has autism. Family-based studies have helped us to understand the rates and patterns of autism within families. Because autism occurs more often in siblings and cousins, this tells us that genes play a large role in ASD.

 

  • Twin studies compare the rates of autism in identical (monozygotic) and non-identical (dizygotic) twins. Identical twins share 100% of their DNA, while non-identical twins share 50% of their DNA, just like siblings. By comparing the rate of autism in identical versus non-identical twins, scientists can study the impact of genetics. For example, if autism is more likely to occur in two identical twins compared to two non-identical twins, this suggests that that genetics is playing a role since identical twins share more of the same DNA. A pair of twins is said to be concordant for autism if they both have autism, and discordant if one twin has autism and the other does not. Previous twin research has found that identical twins have a roughly 90% concordance rate while non-identical twins have a roughly 30% concordance rate. Altogether, this suggests that genes influence the development of autism.

 

  • Population-based studies look at very large groups of people to identify genetic variations that are linked to autism. For example, researchers have used genome-wide association studies (GWAS) to search through the entire genome to find specific genetic variations linked to autism. To do this, scientists have collected genetics data (for example, saliva samples) from many thousands of autistic and non-autistic people and looked to see whether there are certain genetic variations that are found more often in people with autism compared to people without autism. These studies have found that in most cases of autism, there is not a single gene that has a big impact on increasing risk. Instead, genetic risk for autism comes from the combined impact of many hundreds of genetic variants, with each individual genetic variant by itself having a very small effect. These small genetic variations, called single nucleotide polymorphisms (SNPs), are very common and add together to increase the likelihood that a person will have autism.

 

  • Trio studies involve comparing the genetics of 3 people in a family: a child and their biological parents. These studies help us to understand non-heritable genetic variations that can also influence the likelihood of ASD. For example, de novo mutations are changes in the DNA sequence that appear spontaneously in a person and aren’t passed down from their parents. These non-inherited genetic mutations can occur in the parent’s egg or sperm during fertilization and are found in the autistic individual but are not found in the biological parents. Trio studies have also been used to identify copy number variations (CNVs) linked to autism, which are changes in the number of copies of a section of DNA. CNVs can be small or large, spanning multiple genes, and can either involve gene duplications (where there are extra copies of a DNA segment) or deletions (where DNA is missing).

 

 

Explore UCLA CART’s research opportunities and join a research project today.

Do you have questions about genetic testing for autism?

Link to Knowledge portal

Make sure Patty answers following questions in the portal.

Environment

The Environmental Causes of Autism

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Lorem ipsum dolor sit amet consectetur adipiscing elit aptent pretium, parturient vitae cursus maecenas in suscipit facilisi ridiculus ad, ultrices quis vestibulum taciti arcu posuere fermentum justo. Luctus vulputate augue sapien nisl nisi primis facilisis nulla, a tincidunt platea urna odio tortor nostra cum nunc, per etiam non vel netus penatibus pharetra diam, purus imperdiet rutrum sociis laoreet dignissim condimentum. Eget quisque himenaeos auctor risus dictum mattis eros vehicula donec, velit porttitor venenatis enim volutpat lobortis massa congue. Ac curabitur libero porta gravida tempor senectus lacus phasellus, et duis eu turpis hac interdum iaculis sodales, tristique mauris montes dis tellus cubilia dictumst. Suspendisse at est placerat aenean nascetur habitant neque inceptos, lacinia hendrerit semper eleifend morbi ornare euismod, malesuada convallis egestas aliquet magna ultricies accumsan. Fames aliquam rhoncus orci metus nullam sociosqu felis pellentesque consequat, mi integer fringilla torquent litora habitasse nibh molestie lectus ante, tempus ligula commodo potenti id viverra quam ullamcorper. Proin bibendum leo conubia class ut cras mus sed sem, fusce magnis pulvinar praesent natoque scelerisque vivamus dapibus varius sollicitudin, faucibus sagittis feugiat elementum erat blandit nec mollis. Dui curae nam tristique rhoncus netus augue, mus dui penatibus cubilia vivamus lectus egestas, gravida ornare curae blandit tortor. Malesuada pretium phasellus velit class sociosqu vulputate sollicitudin lacinia, leo pulvinar non sagittis rutrum aenean mauris, litora condimentum habitasse elementum tempus nisl viverra. Lobortis laoreet nam et taciti habitant montes porta cras in, aptent venenatis nunc imperdiet justo sed sem orci himenaeos, massa dictum eget sapien quis turpis ligula vitae. Quam vehicula proin arcu ut magna nisi dis tellus nascetur, bibendum felis molestie aliquet senectus neque fermentum hac, dictumst accumsan sodales facilisi ultricies enim suscipit dignissim. Tincidunt semper volutpat tempor varius magnis vel fringilla eu, scelerisque inceptos curabitur placerat dapibus parturient purus duis, platea posuere cursus ullamcorper a maecenas risus.

Lorem ipsum dolor sit amet consectetur adipiscing elit aptent pretium, parturient vitae cursus maecenas in suscipit facilisi ridiculus ad, ultrices quis vestibulum taciti arcu posuere fermentum justo. Luctus vulputate augue sapien nisl nisi primis facilisis nulla, a tincidunt platea urna odio tortor nostra cum nunc, per etiam non vel netus penatibus pharetra diam, purus imperdiet rutrum sociis laoreet dignissim condimentum. Eget quisque himenaeos auctor risus dictum mattis eros vehicula donec, velit porttitor venenatis enim volutpat lobortis massa congue. Ac curabitur libero porta gravida tempor senectus lacus phasellus, et duis eu turpis hac interdum iaculis sodales, tristique mauris montes dis tellus cubilia dictumst. Suspendisse at est placerat aenean nascetur habitant neque inceptos, lacinia hendrerit semper eleifend morbi ornare euismod, malesuada convallis egestas aliquet magna ultricies accumsan. Fames aliquam rhoncus orci metus nullam sociosqu felis pellentesque consequat, mi integer fringilla torquent litora habitasse nibh molestie lectus ante, tempus ligula commodo potenti id viverra quam ullamcorper. Proin bibendum leo conubia class ut cras mus sed sem, fusce magnis pulvinar praesent natoque scelerisque vivamus dapibus varius sollicitudin, faucibus sagittis feugiat elementum erat blandit nec mollis. Dui curae nam tristique rhoncus netus augue, mus dui penatibus cubilia vivamus lectus egestas, gravida ornare curae blandit tortor. Malesuada pretium phasellus velit class sociosqu vulputate sollicitudin lacinia, leo pulvinar non sagittis rutrum aenean mauris, litora condimentum habitasse elementum tempus nisl viverra. Lobortis laoreet nam et taciti habitant montes porta cras in, aptent venenatis nunc imperdiet justo sed sem orci himenaeos, massa dictum eget sapien quis turpis ligula vitae. Quam vehicula proin arcu ut magna nisi dis tellus nascetur, bibendum felis molestie aliquet senectus neque fermentum hac, dictumst accumsan sodales facilisi ultricies enim suscipit dignissim. Tincidunt semper volutpat tempor varius magnis vel fringilla eu, scelerisque inceptos curabitur placerat dapibus parturient purus duis, platea posuere cursus ullamcorper a maecenas risus.

Learn more

A Journey into understanding Autism Genetics

A Journey into understanding Autism Genetics