Angelman Syndrome

What is Angelman Syndrome?

Angelman syndrome is a neurological condition caused by a genetic mutation. It leads to learning difficulties, gross motor delay, and an increased chance of epilepsy.

 

In Angelman syndrome, there is a problem with the messages travelling to the muscles from the central nervous system. There is nothing wrong with the muscles themselves, and with the correct intervention, children with Angelman syndrome can strengthen their muscles, and improve their gross motor skills, just like any other children.

Angelman Superheroes

Our superheroes with Angelman syndrome are super-strong and fearless! Research suggests that fear memories are reduced in children with Angelman syndrome. We use special handling and experienced techniques to challenge our children’s balance, saving reactions and help them to reach their full physical potential, enabling FUN with friends!

How does Physiotheraphy Help?

Gross Motor Skills

Angelman superheroes usually have delayed gross motor skills, and sometimes use a wheelchair to access their environment. Physiotherapy helps to develop gross motor skills and encourage normal development. Tailored and creative physiotherapy techniques help to strengthen specific and isolated muscles required for functional tasks. Compound movements, involving lots of different muscles and joints, enable more complex gross motor tasks to develop such as independent standing and stepping. Frequently our Angelman superheroes have normal, or better than normal, strength. In Angelman syndrome, it was recently discovered that memories of fear are reduced or diminished. A huge part of gross motor skill learning is protecting yourself from falling, or saving reactions. Therefore our Angelman superheroes practice their gross motor skills with a ‘mind learning’ approach, focussing on the cognitive aspect of learning a physical skill.

Promoting Good Range of Movement

Children with Angelman syndrome can have altered muscle tone and movements, called ataxia and/or dystonia. Sometimes children with Angelman syndrome have hypertonia or high muscle tone (muscle tone), and this can occur later on in life. These alterations in tone and movement can lead to permanent muscle shortening, or contractures, as children grow. Physiotherapy helps to reduce the chances of this occurring through active stretching, postural management and strengthening. Sometimes but rarely in Angelman syndrome, a lateral, or sideways curve can develop in the spine called scoliosis. Physiotherapy helps to reduce the curve or prevent it from deteriorating, through positioning and strengthening. Our team will also advise on referrals to more invasive management of tone, for example Botox, Baclofen or serial casting.

Hip Development

The hip joint is shallow as a baby, and develops into a ball and socket through weight bearing activities such as crawling, standing and walking. If children with Angelman syndrome miss out on these milestones, their hips are at risk of remaining shallow, and therefore can become ‘subluxed’ or come out of the socket. Specialist exercises, equipment and standing programmes help promote normal hip development, preventing or delaying the chances of hip subluxation which can require orthopaedic surgery. Postural management advice and programmes help increase muscle length, bone density and muscle strength. 

24 Hour Postural Management

Children with Angelman syndrome tend to be curious and good learners! Therefore the correct alignment is vital for them to reach their full potential. Proper posture helps to enable learning and function by placing the muscles in the most optimal position for active movement, and eliminating gravity as much as possible. It is good to have a balance between: supported positions for relaxing, socialising and playing, and challenging positions to strengthen the core, improve balance and promote saving reactions. A 24 hour postural management programme will address both of these.

Participation and Function

All of our physiotherapy goals lead to increased function in play, socialising and learning. We like to test out these skills in our Angelman superheroes by going on adventures to climbing walls and soft play centres! 

Have a look at our very own superhero Martina to see what she gets up to!

To find out how we can help your Angelman superhero, fill in a form and we’ll get right back to you.