What is SYNGAP1
SYNGAP1 is a rare genetic condition that causes learning disabilities. It affects both boys and girls and generally occurs randomly.
SYNGAP1 often causes seizures, language delays, emotional and behavioural challenges, sleep problems, and motor delays.
SYNGAP1 and learning disability
SYNGAP1 is estimated to account for up to 1% of learning disabilities that don't have a clear cause.
Of the people who have SYNGAP1, their learning disability is almost always moderate to severe, with most people needing a great deal of day-to-day support.
How does SYNGAP1 affect someone?
Someone with SYNGAP1 might have a short attention span, be easily distracted, act impulsively or aggressively towards themselves or others. They may also have low muscle tone and an unsteady walk.
Many people with SYNGAP1 might act in a way that is similar to someone with autism, including avoiding eye contact, preferring familiar routines and situations, being sensitive to lights or sounds, and hand flapping or hand biting.
Some people with SYNGAP1 share some mild physical features, including an open mouthed appearance, full eyebrows and increased distance between the eyes. These features are difficult to see in young children, which is why diagnosis can sometimes be delayed.
Diagnosing SYNGAP1 can be tricky as many of the features can also be seen in other conditions. Contact your GP if you have any concerns about your child.
SYNGAP1 is caused by large or small changes to the gene of the same name. People with SYNGAP1 need their DNA tested to get a diagnosis. Usually this is done with a blood test.
Early diagnosis can help you get the support you need, so make sure you contact a GP if you are worried.
Spotting the signs
Some of the early signs of SYNGAP1 in young children can include:
- Delayed milestones such as sitting independently, standing or walking.
- Feeding difficulties
- Delays in developing language
Living with SYNGAP1
The majority of people with SYNGAP1 will need a great deal of support with their speech and language, and with social and emotional interaction. They will also need support to build and maintain strength and fine motor coordination. Many people with SYNGAP1 have a high tolerance for pain.
Most people with SYNGAP1 also develop epilepsy, and about half have autism. This may also have an impact on the kind of support they need, both as a child and as an adult. Eating or chewing is often difficult and can trigger seizures in a person with SYNGAP1. Some people may need to use a feeding tube.
With the right support, it is possible for someone with SYNGAP1 to lead a happy and fulfilling life, in the way they choose.
Getting the right support
For advice and support, and to find out more, contact our helpline, or visit: