What is SRD?
SRD is caused by a variant or deletion of the SYNGAP1 gene leads to a loss in the overall production of SYNGAP1 protein. The symptoms of SRD can vary from person to person but it is typically characterized by global development delay/intellectual disability, impaired motor skills, delayed or limited speech, epilepsy, and autism spectrum disorder (ASD).
Who gets SRD?
There are over 1600 cases of SRD. The exact incidence is unknown.
What causes SRD?
SRD is caused by a variant or deletion on the short arm of chromosome 6 in the region that houses the SYNGAP1 gene. As a result, people with variants or deletions in the SYNGAP1 may not have a functional gene in each cell. The SYNGAP1 gene provides instructions for making the SYNGAP protein that is found in many organs. It is especially important for brain functioning and development as the protein is most abundantly found there. Thus, it is thought that a reduction in the amount of SYNGAP protein caused by a loss of or change within the SYNGAP1 gene is responsible for many features associated with SRD.
How is SRD diagnosed?
No formal diagnostic criteria have been published for SRD. SRD is diagnosed through molecular genetic testing. Most instances of SRD are a result of de novo chromosomal abnormality. This means that the deletion happened randomly at conception. If the SYNGAP1 pathogenic variant has been identified in an affected family member, prenatal testing and preimplantation genetic testing are possible options.
What is the treatment for SRD?
Effective treatments are available for a variety of the symptoms that occur with SRD. Medications for seizure management, anxiety, and hyperactivity are available, as well as behavioral interventions, such as physical therapy, occupational therapy, speech therapy, and applied behavior analysis (ABA) therapy for moderating symptoms from SRD.
Frequent follow up with care providers to monitor for changes and new abnormalities is recommended.