What is the difference between having autism and having SYNGAP1?
Autism, autism spectrum disorders (ASD), and related communication/social interaction issues are frequently seen in SYNGAP1 and are caused by changes or mutations in the SYNGAP1 gene. However, in addition to ASD, children with SYNGAP1 may also have mild-to-moderate intellectual disability, recurrent seizures (epilepsy), attention deficit disorders, and other mood disorders.
When a child has a diagnosis of SYNGAP1, they still have a diagnosis of autism. Autism is a behavior diagnosis and SYNGAP1 is a genetic diagnosis. Being diagnosed with SYNGAP1 does not take away the autism diagnosis or the benefit of therapies such as behavioral therapy or early intervention. A diagnosis of SYNGAP1 does explain the cause for ASD in that child and allows doctors and parents to watch for other medical issues that may need treatment too.
SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/syngap1/living-with/59998 • DATE UPDATED: 2016-10-18