What it is
There is no cure, but many people with Rett syndrome live into adulthood with support.
Care involves a team that may include physiotherapy, speech and language therapy, help with feeding, and treatment for epilepsy, breathing problems and scoliosis.
Common signs
- Loss of purposeful hand use
- Repeated hand movements, such as wringing
- Loss of speech
- Problems with walking and balance
- Breathing irregularities
- Seizures
How it is usually diagnosed
- Checking development and symptoms
- A genetic blood test
Records worth keeping
Keeping these together makes each appointment easier, especially when you see a new doctor:
- Genetic test results
- Development and therapy reports
- Neurology letters
- Seizure diary
- Care plans
Questions to ask your doctor
- Which therapies would help my child most now?
- How should seizures be managed?
- What support is available for our family?
When to get help right away
Call 112 or go to the nearest emergency department if you have:
- A seizure lasting more than 5 minutes, or long pauses in breathing with blue lips: call 112
This page is general information. It is not a diagnosis and does not replace a doctor who knows your history. Medfold keeps your records organised; it does not interpret them.