A SYNGAP1 variant presents itself in many ways in an affected person. Virtually all SYNGAP1 patients have epilepsy and some form of intellectual disability (See Vlaskamp). But what about autism?
Because it is a spectrum disorder, symptoms can manifest in different severity levels, requiring different levels of support. Autism on its own may or may not be accompanied by intellectual or language impairment or other neurodevelopmental disorders.
The frustrating answer to this question is, “Maybe.” SYNGAP1 and autism are two different diagnoses. SYNGAP1 is a genetic diagnosis and ASD is a behavioral one, so one does not preclude the other.
The diagnostic criteria for autism are:
Some research has been done to help determine what percentage of people with SYNGAP1 have autism. One study of SYNGAP1 patients found 54% also had an autism diagnosis. In another study, the number was 73%. It should be noted that to date, these studies have had relatively small numbers of subjects (57 and 15 respectively). With continued research, those numbers may change in the future.
Recent autism research on over 35,000 DNA sequences strongly associated with autism stated that SYNGAP1 is significant as a leading autism gene. The picture below depicts this. Looking at the line across the top, we can see that, of all the known autism genes, SYNGAP1 is one of the most reliably associated.
Currently there is no cure for autism, but there are many types of treatments available. These include:
More about applied behavior analysis: ABA is a type of therapy based on the science of learning and behavior. ABA therapy aims to encourage positive behaviors and decrease harmful ones. In addition, ABA teaches new skills and applies those skills to new situations. ABA programs are not “one size fits all,” but rather unique to the individual. Parents should make sure that ABA therapists are engaged and committed to learning about SYNGAP1 and the SYNGAP1 patient they are serving.
For a very enlightening presentation on ABA, watch Cultivating Hope with ABA: Behavior Management Strategies for SYNGAP1 patients. It’s presented by the ABA therapist of a SYNGAP1 teen. The presentation itself is educational, and the Q&A that follows tackles some hard questions from the audience (many are SYNGAP1 parents). Above all, it comes from the position of hope!
As many parents of beloved Syngapians have voiced, getting a diagnosis, even one as difficult as SYNGAP1, can be a relief. All those months and even years not knowing what has caused your child to have problems. Once you have a diagnosis, you can zero in on therapies, specialists, and appropriate care. You find a supportive community like SRF and resources such as the Syngap Global Network.
The same is true with autism. There are many organizations, resources, studies and therapies for ASD. You’re not alone. And one more key reason for an ASD diagnosis is that, for the most part, you will need a diagnosis of autism/ASD from a licensed physician or psychologist and a prescription/recommendation to receive ABA treatment or other services. You will also need the ASD diagnosis so that insurance will cover therapy.
This article gives you a sense of what an autism assessment might entail. Given the reasons above and the evidence that at least 50% of SYNGAP1 patients have autism, it’s very much worthwhile to have this conversation as early as possible with your medical team.
The information below from Autism Speaks offers additional helpful information to help better understand what autism is and how families can get services and support: