Research has shown genetic changes of the SCN2A gene are linked to a diagnosed of Autism. Studies have discovered de novo mutations in SCN2A are linked to neurodevelopmental phenotypes which include: intellectual disability, autism, and schizophrenia.
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:
"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.
- Social Interactions
- Restricted, Repetitive & Stereotyped Patterns of Behavior
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 ....
- 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.
- 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.
- Most of these characteristics can be identified in children and adults with ADHD, not just individuals with Autism.
*Content taken directly from: www.simonsvipconnect.org/information-resources/what-is-autism.html
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 Here
Scan of ‘missense’ mutations marks new suspects for autism risk
A large study of minute mutations in people with developmental conditions, including autism, has uncovered 200 potential risk genes.Read More
- By Bahar Gholipour
Family groups play key role in advancing autism research
As genetic testing for autism and related conditions of brain development becomes more common, parents are increasingly receiving specific genetic diagnoses for their children.Read More
- By Stephan J. Sanders; Assistant professor, University of California, San Francisco
Top Autism Gene May Alter Sensory Perception
An unusual brain response to sound may distinguish children with mutations in SCN2A, a leading candidate gene for autism.Read More
- By Jessica Wright
Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A
Variants in the SCN2A gene that disrupt the encoded neuronal sodium channel NaV1.2 are important risk factors for autism spectrum disorder (ASD) ....Read More
- By Roy Ben-Shalom, Caroline M. Keeshen, Kiara N. Berrios, Joon Y. An, Stephan J. Sanders, and Kevin J. Bender
Ways To Contribute
Whatever you decide, please let us know. We are here to support you with ideas, resources and more. Check out the FamilieSCN2A Fundraising Page on facebook to see how others have helped.