Angelman Syndrome

What is Angelman Syndrome?Angelmans

Angelman Syndrome is a rare neuro-genetic disorder. The syndrome is named after a British paediatrician who first described the syndrome in 1964. The syndrome is characterised by intellectual and developmental disability, jerky movements (especially hand flapping), unstable gait, sleep disturbances, seizures and a happy demeanour. Angelman Syndrome occurs in approximately 1 in 20,000 births.

How is it diagnosed?

Diagnostic criteria are based on both clinical features and on currently available genetic information. It is caused by a variety of genetic mechanisms, all involving chromosome 15. Clinical diagnosis is difficult in the first 2 or 3 years of life as other conditions (ie Rett Syndrome) have a similar presentation.

Clinical characteristics of Angelman Syndrome

100% of cases include:

  • severe developmental delay
  • speech impairment with minimal use of words, better receptive than expressive language
  • movement or balance disorder – often ataxic gait, tremulous movement of hands
  • behaviour – can include frequent laughter, excitability, hand flapping, mouthing, hyperactivity

Support for children and families include:
– diagnosis and access to a supporting team
– genetic counseling and testing
– recognition and management of epilepsy if present
– management of hyperactivity
– physiotherapy, occupational therapy and speech therapy
– respite and family support

What Therapies for Kids can do

At Therapies for Kids one of our experienced physiotherapists will assess your child and assist you to formulate goals using the Goal Attainment Scale. Then we can assist you with putting together a physiotherapy plan. This may include hands on intervention, a home exercise plan, involvement in group activities, and hydrotherapy. The interactivity of the programme will be dependent on you and your child. Often blocks of intensive therapy are recommended whilst your child is having a break from other activities or while consolidating a particular gross motor skill ie. crawling or walking.

In therapy, treatment will be targeted at acquisition of motor skills, motor planning, strengthening and balance. The acquisition of motor skills eg. ball skills has been shown to enhance social skill development as your child can then interact with their peers.

What you can do

Help your child with gross motor development by providing play experiences when first learning motor activities. This includes tummy time, and lots of different surfaces to kneel or stand at. Play in different play spaces allows generalisation of skills. Fun ways to be involved in fitness and strengthening include swimming and riding a balance bike or tricycle. Assisting your child to take skills learned in therapy and applying them in the community is of utmost importance in developing independence and social play.