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.

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
  • Epilepsy
  • unusual movements including fine tremors, hand flapping, jerky limb movements
  • limited or absent speech
  • learning disabilities and 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

How can CPL help?

Early Intervention Therapy

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.

NDIS

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.

 

Get started

For more information about how we can support you with Angelman syndrome, call us on 1800 275 753, or contact us online.

Send an online enquiry