SYNGAP1

SYNGAP1 can happen when your SYNGAP1 gene changes.

You say gene like jean.

Your genes are part of your cells.

Every living thing is made of lots of cells.

SYNGAP1 does not happen very often.

No-one knows what makes the gene change.

Children with SYNGAP1 often do not start to do things as quickly as other children.  For example:

• moving around
• learning to walk
• learning to talk
• holding a toy

SYNGAP1 often affects:

• your feelings
• how you behave
• the way you are with other people.

Nearly everyone with SYNGAP1 will need a lot of support because of their learning disability .

People with SYNGAP1 might:

• find it hard to listen to people for a long time
• find it hard to do things for a long time
• do things before they stop to think
• hit or kick themselves or other people.

People with SYNGAP1 might have floppy muscles.  This means it might be difficult for them to hold things, talk, or walk.

Most people with SYNGAP1 also have epilepsy.

About half of people with SYNGAP1 have autism.

Lots of people with SYNGAP1 might behave like people who have autism. For example, they might:

• not look at people's eyes
• like to do the same things again and again
• find some lights too bright
• think that some every day sounds are very loud
• like to do things like flapping their hand, or biting their hand a lot.

A lot of people with SYNGAP1 do not feel pain until it is very bad.

Some people with SYNGAP1:

• look surprised or shocked a lot of the time because their mouth is open
• have big eyebrows
• have a bigger gap between their eyes than other people.

Doctors might not be able to tell that a child has SYNGAP1 because it is difficult to see these things when children are young.

It can be difficult to find out if your child has SYNGAP1.

Talk to your doctor if you are worried about your child.

A blood test can help to find out if your child has SYNGAP1.

Your child might have SYNGAP1 if they:

• do not start to sit by themselves, stand or walk as quickly as other children
• find it difficult to feed
• have seizures
• do not start to learn to talk as quickly as other children. 

People with SYNGAP1 often find it difficult to eat or chew.

When people with SYNGAP1 try to eat or chew, they often have a seizure.

Some people with SYNGAP1 might need to have their food from a tube through their stomach.

People with SYNGAP1 can be happy and do things they enjoy if they have the right support.

Most people with SYNGAP1 will need help with talking and being with other people.

They will need help to get strong muscles to help them to move around. 

They will need help to use their muscles in their hands so they can hold things like food and toys.

SYNGAP1 UK has lots of information and support.

The SYNGAP Research Fund has lots of information and support.

Genetic Alliance UK has lots of information and support.

You can also contact the Learning Disability helpline for more information and support:

• email Helpline@mencap.org.uk 
• phone 0808 808 1111