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.

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.

  • 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

‍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:

  • ‍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.

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.

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:

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