What it is
It is caused by a missing or non-working UBE3A gene inherited from the mother. Most cases are not inherited from the parents but happen by chance.
There is no cure; care focuses on therapies for communication, movement and development, treatment of seizures and support for sleep.
Common signs
- Delayed development, noticed from around 6 to 12 months
- Little or no speech, but better understanding
- Jerky movements and problems with balance
- Seizures and sleep problems
How it is usually diagnosed
- Genetic blood tests looking at chromosome 15
- EEG (brain wave test) if seizures are suspected
Records worth keeping
Keeping these together makes each appointment easier, especially when you see a new doctor:
- Genetic test results
- EEG reports and seizure diaries
- Therapy reports (speech, physio, occupational)
- Medicine lists and doses over time
Questions to ask your doctor
- Which genetic cause does my child have, and what does it mean for future pregnancies?
- Which therapies and communication aids would help?
- What should we do during a long seizure?
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 one after another without recovery
- Breathing difficulty during or after a seizure
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.