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:
- 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
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
References:
www.angelmansyndrome.org
www.cureangelman.org.au
www.raisingchildren.net.au
How can CPL help?
CPL – Choice, Passion, Life is the leading provider of integrated support, therapy and advice for people living with a disability in Queensland and Northern New South Wales, and their families. We work with our clients at every stage of their lives. We deliver the very best support, guidance, technology and understanding possible, so people can achieve the things that matter the most to them. We know that given the right opportunities, people can grow beyond expectations and create amazing lives. It’s why we refuse to compromise in chasing the best lives for our clients, and ourselves.
Give us a call on 1800 275 753 to discuss your support needs with our team, or send an online enquiry and we'll be in touch.
Get In Touch
Talk to one of our friendly CPL team members
Call 1800 275 753
Find out what services you can access in your area or check out your nearest CPL centre.