Author 18 Dec 2023

The Role of Genetics in Autism

The word "autism" comes from a Greek word that means "itself" or "to itself." It's a condition where how it shows up can be really different from person to person, and it affects how someone grows up.

Because more people are being diagnosed with autism, and there's a lot of research on how to help and the costs of taking care of people with autism, it's become a big deal in public health.

About 0.5-1% of people have Autism Spectrum Disorders (ASDs), and it seems like more people are getting diagnosed every year, increasing by about 15%.

is seen as a really complicated condition because it comes from lots of different things, not just one. But none of these things alone completely causes it.

Now, experts think genes play a big part in autism, with lots of genes working together. Also, some other conditions that we understand better might have a link to autism.

After someone is diagnosed with autism, a common question is what makes it happen. Well, there isn't just one thing that causes autism. Scientists think it happens because of a mix of stuff, like genes and things around us, not just genes.

These things make it more likely for a child to have autism. But it's important to know that being more likely to have it isn't the same as what causes it. For example, some gene changes linked to autism are also seen in people without the condition. And not everyone who faces something in their environment that could be linked to autism will actually get the condition. Actually, most won't.

Studies show that autism often shows up in families. When certain genes change, the chance of a child having autism goes up. These gene changes might come from a parent, even if that parent doesn't have autism. Sometimes, these changes happen in a baby before birth or in the cells that make the baby. Most of these gene changes alone don't cause autism. They just make it more likely for someone to have it.

Since the very first study on twins with autism in 1977, many research teams have looked at autism in twins and found that it runs in families. When one identical twin has autism, there's about an 80 percent chance the other twin does too. For fraternal twins, it's around a 40 percent chance.

But it's not just about genes. Other things around us also play a role in autism. Some researchers aren't sure how much genes or these other things contribute. Certain environmental reasons, like when a mom's immune system reacts while pregnant or if there are issues during birth, might team up with genes to cause autism or make its traits stronger. 

Some conditions linked to autism come from changes in just one gene, like fragile X and Rett syndromes. But in most cases of autism without these specific conditions, less than 1 percent happen because of changes in just one gene. Right now, there isn't a single gene that's always changed in everyone with autism. And when a gene does change, it doesn't always lead to autism.

Genes are like instructions for how our brains grow and work. As has already been discussed, scientists have been studying how genes are involved in autism, which affects how people think and act.

They've seen that if one identical twin has autism, the other twin often has it too. This tells us that genes have a big part in causing autism because these twins have almost the same genes.

But there isn't just one "autism gene." Instead, it seems like many genes can be involved. These genes might affect how the brain develops or how nerve cells talk to each other.

Some gene changes linked to autism can come from parents, even if the parents don't have autism themselves. Other changes happen by chance when a baby is growing, either in the early embryo or in the cells that make the baby.

What's interesting is that having certain gene changes doesn't always mean someone will have autism. Some people carry these gene changes but never show any autism signs. This shows that genes work with other things, like stuff in the environment, to cause autism.

Scientists are still studying how different genes team up and work with the environment. They're also finding connections between autism and other conditions that have similar gene changes.

New technology helps scientists look at all the genes to understand autism better. But genes aren't the whole story; things around us and even before birth can also affect autism. Figuring out how all these things fit together is super important for making special treatments for people with autism.

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