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Autism and SCN2A

Research has shown genetic changes of the SCN2A gene are linked to a diagnosed of Autism. Studies have discoverd de novo mutations in SCN2A are linked to neurodevelopmental phenotypes which include: intellectual disability, autism, and schizophrenia.

What is Autism?

The FamilieSCN2A Foundation has partnered with Simons VIP because of their desire to study the genetic changes of SCN2A that cause both Autism and Epilepsy. Here is how Simons VIP describes Autism and what it is:

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"Autism"is more commonly called "Autism spectrum disorder (ASD),"because we find a range of differences in people. ASD is a developmental disability that is caused by differences in the way the brain functions.

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Individuals with ASD have trouble in three specific areas:

  1. social interactions,

  2. communication, and

  3. restricted, repetitive and stereotyped patterns of behavior.

 

Some children may have trouble in two of the three areas, but not all three. This results in having "features of autism, but not the full diagnosis of ASD. Please see below for additional information about these features.

It's important to remember that...

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  1. Not everyone with a genetic change that we research has a diagnosis of Autism. In fact, most people will not be diagnosed with autism, however, many people with the genetic changes we are learning more about may have had one or more of the behavioral features mentioned above and described in more detail below.

  2. Even if a person does have Autism, most will not exhibit all of these features. Every person is unique and cannot be defined by one single genetic change. We are a combination of ALL of our genes -- and that is what makes us each unique.

  3. Most of these characteristics can be identified in children and adults with ADHD, not just individuals with Autism.

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Content taken directly from: https://simonsvipconnect.org/information-resources/what-is-autism.html

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Has your child been diagnosed with Autism as a result of a genetic change in the SCN2A gene? We encourage you to register through our partners Simons VIP to help us further understand this form of Autism and how we can work towards progressive treatments. Register by clicking HERE. 

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