Don’t Forget Genetics

Should you consider genetic testing?

You may have had genetic testing for Fragile X Syndrome when your child was first diagnosed with Autism.

It’s rare to have this syndrome, and typically there’s no other genetic testing considered.

There are studies now showing that approximately 35% of boys and 45% of girls have a genetic disorder associated with ASD.

We have approximately 20,000 genes. Over 800 genes have been identified with autism and dozens of genetic syndromes are associated with ASD such as Angelman and Rett Syndrome.

Studies have also shown that greater than 70% of children with a genetic disorder can be treated, although it’s uncertain how effective the treatment can be.

So, when should you consider testing?

I think nowadays it’s worth undergoing the testing once for any genetic condition since our genes do not change, especially in girls and kids that were born with neurodevelopmental delays or are non-responders to therapies.

In kids with regressive autism,  there’s more likely environmental causes but genetics can play a role.

The two tests that will look for genetic mutations and either chromosomal duplications or missing pieces are a whole exome sequence (WES) and chromosomal microarray (CMA).

These can be done by blood or a cheek swab.

There is also genomic testing for single nucleotide polymorphisms (SNPs) like you can get from companies like 23 and me, but this will tell if the genes coding for certain enzymes like MTHFR may be sluggish but won’t look for genic mutations like the WES and CMA.

Many practitioners focus so much on the epigenetic/environmental influences, which are certainly important, but don’t consider genetics, since they often don’t think there are possible treatments.

I felt similarly, but with new data showing the high percentage of kids with genetically associated ASD and the treatment options that are available, it behooves us to consider the testing.

You can schedule a free session to discuss genetics and epigenetic influences on your child @ https://myhopewellness.satoriapp.com/offers/268129-discovery-session.