Autism Archives

What is Autism Spectrum Disorder?

Autism and genetic testing is very important. Before I dive in, let’s review what is Autism Spectrum Disorder? Autism is a neurodevelopmental disorder associated with a variety of developmental delays, social and communication delays, and often repetitive behaviors that may first appear during infancy. These delays may include learning delays, speech delays, vocal developmental delays, social skills delays, inability to socialize, non-verbal communication skill delays, and repetitive behavior (also known as self-stimulating behaviors). Autism Spectrum Disorder is a vast spectrum of delays which may be mild and few to severe and numerous. Two other diagnoses considered to be part of the spectrum are Asperger’s Syndrome and Pervasive Developmental Delay.

What Causes Autism?

A specific cause for each case of Autism is unknown. Autism is thought to be due to genetic and environmental effects. However, current data reveals that 70-80% of Autism is due to genetic mutations (deletions, or duplications). Of those, approximately 70-80% are known genetic mutations while 20-30% are unknown.

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Will Genetic Testing Help?

The answer is complicated. In some cases, it helps. And in some cases, it doesn’t. In some cases, it will help now. And in some cases, it will help in the future. Another possible benefit is that genetic testing may help with family planning.

Can Genetic Testing Diagnose Autism in Pregnancy?

Genetic testing in utero does not reveal a diagnosis of Autism. To date, there is no formal genetic test that can diagnose Autism in utero and otherwise. There are many genetic mutations that have been associated with Autism. And many more are being discovered all the time. And if you had a genetic test of the embryonic fluid, you may discover that your child has one of those mutations. But having one of the genetic mutations associated with Autism doesn’t mean that your child will have Autism. A genetic association is not the same as a diagnosis for Autism.

Why is Genetic Testing Helpful for Autism?

Genetic testing can be helpful if you have a child diagnosed with Autism. Typically, your child’s pediatrician will refer your child to a Geneticist. Genetic testing in the form of Chromosomal Microsomal Analysis (CMA) may reveal a genetic cause for your child’s Autism. It has the highest detection rate among all genetic tests for Autism. Additional testing may include Fragile X testing and G-banded karyotype. A Geneticist may recommend testing for your other children and mother and father. Why? Other children may not have been diagnosed yet. Not all Autism is easily diagnosed as there is a wide range of symptoms on the spectrum. In addition, either parent may be a genetic carrier for Autism.

When is Genetic Testing for Autism Helpful?

Autism and genetic testing is helpful when a specific genetic mutation is known to be associated with specific delays with Autism. A specific treatment plan can occur when this is discovered. And the younger this is discovered, the sooner the therapies can begin. And the more effective they are.

In general Speech Therapy, Physical Therapy, and Occupational Therapy, and Applied Behavioral Analysis therapy are common therapies that children with Autism may need. For example, memory problems are associated with specific genetic mutations while they are not associated with others. If you knew that a specific genetic mutation had memory delays associated with it, you’d be able to tailor that therapy for your child. Tailoring additional therapies and/or increasing the frequency of a specific therapy to help with memory delays would be extremely helpful in this example.

When is Genetic Testing for Autism Not Helpful?

In general, there are over 250 genetic mutations associated with Autism. And more genetic mutations are being discovered. If your child has a genetic mutation that is new or uncommon, unusual, or rare there may not be a known genetic association with Autism yet.

What to do next? The answer is you must wait. As more testing is done and more associations are made, it is possible to eventually have a genetic diagnosis of Autism. As more testing occurs, more data is collected and analyzed. With time, you may learn about specific delays and treatments that apply to your child’s Autism. However, if there are genetic mutations that are found in your child, then it is beneficial to test your other children for the same mutations. It may aid in the diagnosis of Autism. It also may be a benefit as your child becomes an adult with Autism. Future therapeutic options may exist.

How Will You React if Your Child Has a Genetic Mutation?

This is extremely important. Some people need to know. And some don’t want to know. And others just aren’t sure if they should know. Emotions can’t be ignored. Will it bring you peace of mind? Will you be satisfied if you know there is a genetic mutation, and you can get specific tailored therapies for your child? Would you be willing to have your other children tested? What if the genetic mutation is present, but nothing is known about it yet? Will this cause you more anxiety? All this needs to be considered. Knowing yourself and how you might react is helpful to determine your child’s path.

Table 1. Most Significant Terms Enriched Using the GOBP Database (Rodriguez-gomex, et al., 2021

Term Genes

Social Behavior Patterns	SHANK2, AVPR1A, DRD3, OXTR, PTCHD1, NRXN1, NLGN4X, SHANK3, CNTNAP2, MECP2, NRXN2, NLGN4Y, SLC6A4
Vocalization Patterns	SHANK2, CNTNAP2, NRXN1, NLGN4X, NLGN4Y, SHANK3, DLG4, NRXN2
Assembly of Synapse	SHANK2, BDNF, DRD2, NRXN1, NLGN4Y, SHANK3, DLG4, NRXN2
Memory	HTR2A, SHANK2, CHRNA7, GRIN2A, PTGS2, SLC6A4, CXT3CR1, SHANK3, DRD1, OXTR
Synaptic Transmission is regulated positively	SHANK2, DRD1, NRXN1, SHANK3, PTGS2, RELN, OXTR
Learning	SHANK2, SHANK3, CNTNAP2, DRD1, DRD3, NRXN1, NLGN4X, NLGN4Y, PTGS2
Vocal Learning	SHANK3, CNTNAP2, FOXP2, NRXN1, NRXN2

Source: https://www.sciencedirect.com/science/article/pii/S2667242123000295, “Correlation of mutated gene and signaling pathways in ASD”, IBRO Neuroscience Reports, Volume 14, June 2023, Pages 384-392

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Several of my patients have Autism. They vary exactly where they are on the spectrum.

Most of them have some form of anxiety at office visits; for some, it is severe. Of course, many children Have anxiety around doctors. In fact, surgeons have noticed that the iPad has become a great anxiety reducer.

Many children nowadays have some sort of electronic entertainment while they are in the exam room. This helps to pass the time and with some children, it indeed reduces stress. However, I have noticed that in children on the Autism Spectrum, these devices are more helpful than with other children. It tends to soothe them, in that it allows them to focus on something they enjoy, rather on my examination of them. Now, when parents of children with Autism try to pry these tablets, iPads & handheld gaming devices out of their children’s hands, I encourage their use. Parents at first look at me in a questioning manner. However, once they see that most, if not the entire exam can be done with the tablet in the child’s hands, without anxiety, they are thrilled. After all, it is stressful enough to go to the pediatrician, let alone to have to wrangle with your child while they are there.

In fact, I’ve learned that I can be physically more flexible than I knew. Of course, this requires me to be able to work around the child and the tablet, which I was neither trained to do, nor accustomed to do. However, the benefits are worth it. Happy child means happy parent. It’s nice to able to maneuver in the world of a child with Autism with an iPad and lots of happiness.

Autism and Genetic Testing: Why? When? & the Benefits!