What is Angelman syndrome?
Angelman syndrome is a genetic condition that causes life-long physical and mental impairment.
What causes Angelman syndrome?
Angelman syndrome is caused by loss of function of the UBE3A gene. The condition occurs when the gene is either missing, or not working properly.
What are the symptoms of Angelman syndrome?
Angelman syndrome typically becomes noticeable in the first year of life. A baby with Angelman syndrome will show signs of delayed development, such as being unable to sit or make babbling sounds. Around 2 years old, the child may experience seizures. Other symptoms include:
- Frequently becoming over-excited with no obvious cause. Children will often flap their arms and laugh a lot
- Sleep issues, including difficulty falling asleep, frequent waking and a reduced need for sleep.
- Crossed eyes
- Pale skin, hair and eyes
- Facial features such as a wide mouth, widely spaced teeth, a prominent chin and a tendency to stick out the tongue
- Walking with raised arms
Often sleep difficulties and seizures will improve into adulthood, but life-long learning and mobility issues will remain.
