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Neurology
SYNGAP1 Disorder
We specialize in the big things, the small things and everything in between.
What is SYNGAP1 disorder?
SYNGAP1 is a rare genetic disorder that causes neurological and developmental delays. This condition is identified by one or more of the following features: epilepsy, eyelid myoclonia (jerking or flickering up of the eyelids associated with the eyes rolling upwards), autism, intellectual disability and behavioral issues.
What causes SYNGAP1 disorder?
SYNGAP1 disorder is caused by a DNA change in the SYNGAP1 gene. Even though this is a genetic condition, these changes mostly happen randomly and aren’t necessarily passed down from family members. The SYNGAP1 gene is needed to make SynGAP protein, which is important for regulating the synapses (where the neurons speak to each other) in the brain. When there’s a variation in the SYNGAP gene, it doesn’t produce enough SynGAP protein. This makes it hard for the neurons to communicate effectively and can lead to many neurological problems.
Who gets SYNGAP1 disorder?
A child is born with changes in their SYNGAP1 gene, with symptoms showing up in infancy. This syndrome affects both boys and girls and has been diagnosed in about 1,400 patients worldwide.
What are the signs and symptoms of SYNGAP1 disorder?
SYNGAP1 disorder symptoms and common associated conditions include:
- Epilepsy
- Severe behavioral concerns
- Difficulty eating
- Developmental delays
- Mild to severe learning disabilities
- Sleep disturbances
- Low muscle tone
- High pain tolerance
- Speech delays
What tests do we use to diagnose SYNGAP1 disorder?
Since the signs and symptoms of SYNGAP1 can be common to many disorders, we use a genetic test to diagnose this condition. A genetic test collects blood, saliva or cheek swab sample to detect changes in the SYNGAP1 gene.
Along with genetic testing, neuropsychological testing can help diagnose challenges associated with SYNGAP1 disorder. Neuropsychology testing looks at your child’s brain function to identify areas that signal SYNGAP1 disorder. This test also allows our experts to compare results to other children with the same genetic diagnosis. To further support development, this testing allows our team to connect with your child’s school, therapists and other providers to provide the best support possible.
How do we treat SYNGAP1 disorder?
Due to its genetic nature, there’s no cure for SYNGAP1 disorder. But here, in our SYNGAP1 Multidisciplinary Program, we provide individualized treatment plans that can help reduce your child's symptoms and create the best possible quality of life.
Some treatment may include medication to help possible seizures, sleep problems, muscle tone and behavior problems. Additionally, physical, occupational and speech therapy can improve motor and communication skills that help most children adapt to symptoms of SYNGAP1 disorder.
Why choose us for treatment of SYNGAP1 disorder?
While receiving a genetic disorder diagnosis can be scary, we’re here to help you understand the symptoms and treatment options for rare conditions like SYNGAP1.
Our experts in the SYNGAP1 Multidisciplinary Clinic provide the most advanced clinical trials and latest treatments from the lab directly to your child. In our clinic, you’re able to visit with many specialists all in one visit, including neurologists, genetic counselors, therapists and more to help your child navigate this condition. We serve as a consultative service too, meaning we provide resources to other providers to improve genetic outcomes and help manage care.
Helpful SYNGAP1 disorder resources
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Do you have questions about your child’s condition?
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Get to know our pediatric experts.
Megan Abbott, MD
Neurology - Pediatric, Neurology
Patient ratings and reviews are not available Why?
Margarita Saenz, MD
Clinical Biochemical Genetics, Clinical Genetics and Genomics - General
Andrea Miele, PhD
Neuropsychology
Jordan Wyrwa, DO
Physical Medicine & Rehabilitation