What is Angelman syndrome?

Angelman syndrome is caused by abnormal expression of a group of genes on chromosome 15.

People with Angelman syndrome may also have the following symptoms:

• difficulties playing or interacting directly with other people
• Epilepsy
• unusual movements including fine tremors, hand flapping, jerky limb movements
• limited or absent speech
• learning disabilities and/or limited attention span

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

References:
www.angelmansyndrome.org
www.cureangelman.org.au
www.raisingchildren.net.au