Understanding Angelman syndrome
Angelman syndrome is a genetic condition that causes neurological symptoms. Characteristics include intellectual disability, distinctive facial features, severe language impairment as well as movement and balance problems. This condition was first reported in 1965 by a pediatrician working in Warrington, Chesire, Dr. Harry Angelman.
Facts about Angelman syndrome
Angelman syndrome is caused by abnormal expression of a group of genes on chromosome 15.
People with Angelman syndrome may also have:
- trouble playing or interacting directly with other people
- unusual movements including fine tremors, hand flapping, jerky limb movements
- limited or absent speech
- learning disabilities and limited attention span
What are the symptoms of Angelman syndrome?
Each child diagnosed with Angelman syndrome will be different and individual. Diagnosis can be made by a pediatrician, however a referral to a neurologist or clinical geneticist is often required.
The diagnosis of Angelman syndrome is based on:
- Delayed motor and speech milestones
- Characteristic facial appearance
- Abnormal EEG tracing
- An unusually happy disposition and frequent laughter
How can CPL help?
No matter where you are on your journey, we are ready to help you achieve your goals. Our services aim to support people to reach their full potential through: