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Is Autism Genetic?

Learn if autism can be inherited from pediatrician and child development expert Asma J. Sadiq, M.D. in this Howcast video.


So is autism a genetic disorder? This is something that's been researched, and there are definitely genetic conditions that are associated with autism, something like Fragile X. And that is a testing done often in children diagnosed with autism. It is rare but there's an abnormality in the extra chromosome being transmitted that is an issue in some children. However, this is a very small percentage of children who get diagnosed with autism who actually has a Fragile X problem.

There are other medical conditions which are genetically known. But the understanding is that it's not one gene but there are multiple genes. And it's probably a host of little differences whether you call them de novo mutations or changes that take place or a single nucleotide polymorphisms called SNPs which can contribute and work together as a cascade to cause a difference in the immune system, in the methylation cycles, and so many other areas that are important in the neurochemistry and the neurobiology of the brain.

So there is underlying genetic differences, and it is interesting that some of the genes that have been associated with autism are also involved with gastric function, with immune function. And a huge amount of research is coming out in this area. Something simple, not just with major genes but genes that code for enzymes. This is going to get a little complex as I use words like the creation of folic acid. It has to be converted to folinic acid. And you need MTHFR, methylenetetrahydrofolate reductase which is an enzyme that converts the folic acid to folinic acid.

And children with the autism spectrum often can have one of two of the LLs or pieces missing in the creation of this enzyme. And if this enzyme is not working effectively, you may have some issues in the creation of folic acid which you need for your brain and for a neurotransmitter functioning which is important for the creation of dopamine, serotonin, norepinephrine. I'm going into major chemistry here, but that's what genetics involves. So it's not just a simple gene, but it's a cascade of genes. And it's not just the major chromosomes that we're talking about but the subareas, the DNA creation of even enzymes and the generic variations at that level that may be involved or that are involved and need to be researched and worked with in children with an autism spectrum disorder.

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