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 the following symptoms:
- 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
Diagnosing 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?
As Angelman syndrome is generally diagnosed in early development, our early intervention services can help support you and your family learn how to best support your child and develop strategies for skill development.
The NDIS Early Childhood Early Intervention (ECEI) approach supports children aged 0-6 years who have a developmental delay or disability and their families/carers. CPL's Support Coordinators can help you to navigate your first NDIS plan.