83 - Does My SYNGAP1 Child Have Autism?

‍And If So, Where Do I Go From Here?

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? 

‍What is autism?

• ‍Simons Searchlight, an organization dedicated to advancing the genetic science related to autism, describes autism as a developmental disability caused by differences in the way the brain functions. It is commonly called autism spectrum disorder (ASD) because there’s a wide variety in the type of symptoms people experience. 
• ‍Autism Speaks, dedicated to autism research and solutions, says ASD refers to a broad range of conditions characterized by challenges with social skills, repetitive behaviors, speech, and nonverbal communication. 

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.

If my child has SYNGAP1, does it mean he/she is autistic?

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:

• Persistent deficits in social communication and social interaction across multiple contexts
• Restricted, repetitive patterns of behavior, interests, or activities
• Symptoms present in the early developmental period
• Symptoms cause clinically significant impairment in social, occupational, or other important areas of functioning

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.

‍What therapies are beneficial for someone with autism?

Currently there is no cure for autism, but there are many types of treatments available. These include:

• ‍Behavior and Communication Approaches: Applied behavior analysis (ABA--more on this below), occupational therapy, physical therapy, speech therapy, social skills training, sensory integration therapy, assistive technology.
• ‍Medication: There are no drugs that cure autism or treat its core symptoms, but some medications help some people with autism function better. 
• ‍Dietary Approaches: Some dietary treatments for ASD have been suggested, but this systematic review concludes that, at least to date, there’s little evidence to support this.

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!

Why does an ASD/autism diagnosis matter?

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. 

For now, very few insurance companies know what SYNGAP1 is, but they all know ASD.  This will change for the better as our SYNGAP1 ICD10 code (F78.A1) comes into effect this year.‍

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. ‍

Autism Resources

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:

• ‍The Signs of Autism: Learn the early signs of autism and become familiar with the typical developmental milestones that your child should be reaching
• ‍What is Applied Behavior Analysis: A clearly written overview
• ‍Parents Guide to ABA: A more comprehensive but still user-friendly guide
• ‍Autism Directory: Search resources by age, functional level, location, and more.