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Is Autism Caused by Genes?
Yes, in many cases, genes play a major role in causing autism. But it’s not always just one gene — autism is often caused by a mix of:
What Do the Studies Say?
Studies show that:
• Around 60% of autism cases have a clear genetic reason.
• Between 15% to 40% of children with autism have specific gene mutations that we can identify using modern genetic testing.
• In some cases, no clear genetic cause is found yet, but research is still ongoing.
How Is Genetic Testing Done?
Doctors can now test children with autism using:
1- Fragile X test – especially for boys.
2- MECP2 gene test – mainly for girls (to check for Rett syndrome).
3- Whole Exome Sequencing (WES) – looks at thousands of genes at once.
4- Family studies – checking parents’ DNA to see if the gene change is inherited.
What Did the Research Find?
A study done in Egypt on 70 children with autism found:
- 44 children (about 63%) had a clear genetic cause
- Some had gene changes passed from their parents
- Others had rare or new mutations
The types of gene changes found included:
- Autosomal dominant mutations (in one gene copy).
- X-linked mutations (mainly affect boys, but sometimes girls too).
- Autosomal recessive mutations (need two copies of the gene to be affected).
Examples of Genes Linked to Autism
Some of the genes that were found to be related to autism include:
- CNTNAP2, CHD1, GRIN2A, TET3, SETD1A – involved in brain development, learning, and communication.
- NAA10, PCDH19, IL1RAPL1, ATRX – linked to intellectual disability and autistic behavior.
- DEGS1, HNMT – rare genes that affect brain function and can lead to severe developmental delays.
Each gene affects brain development in different ways — some control how brain cells connect, others affect learning, memory, or even mood.
A Wider View: Beyond the Brain
New research shows that autism isn’t just a brain disorder — it may involve the immune system and hormones too.
Hormonal Imbalance:
- Hormones like testosterone and cortisol can affect how the brain grows and functions.
- A gene called CYP17A1 helps make these hormones. Changes in this gene may be linked to autism.
The types of gene changes found
Immune System:
- Some children with autism have inflammation in the brain.
- The gut microbiome (bacteria in the digestive system) can also affect behavior and brain function.
- Cytokines (inflammatory chemicals) are often imbalanced in autistic individuals.
What Does This Mean for the Future?
This research shows us that:
- Autism can have many causes, but genes are a big part of the story.
- Understanding these genes can help us diagnose autism earlier.
- It also opens the door for personalized treatments in the future — based on each child’s unique genetic profile.
Summary
• Autism is often caused by a combination of genetic and environmental factors.
• Modern genetic testing can help explain many cases of autism.
• In some cases, no clear genetic cause is found yet, but research is still ongoing.
• Multiple body systems — the brain, hormones, and immune system — may all be involved.
• This new understanding helps us move toward more holistic and personalized care for people with autism.
