Rett syndrome and MECP2 variations

Mr Fantastic

We are very popular with Rett syndrome superheroes, and over 15 children with Rett Syndrome and atypical Rett Syndrome come to Bumble Bee Physio!

What is Rett syndrome?
Rett syndrome is a neurological condition caused by a genetic mutation related to the MECP2 gene. Depending on the type of mutation, children’s abilities can vary across a moderate spectrum. Rett syndrome usually occurs in girls, although boys can have Rett syndrome too. It is classified as a neurodegenerative condition and characterised by regressing of gross motor and cognitive skills. However, from our extensive experience, not all children with Rett or atypical Rett syndrome follow this pattern of a typical neurodegenerative condition. Rett syndrome affects the central nervous system, and the messages being sent to the muscles. The muscles themselves are not affected. This means that over time, children with Rett syndrome are at risk of other symptoms developing in line with lots of other neurological conditions, but not neurodegenerative conditions, which usually follow a varied timeline regression. Seeing so many children with Rett syndrome opens our eyes to a new potential in these children – we will never put their gross motor skills, or physical ability ‘in a box’ and will always treat each child according to their unique goals.

Our superheroes
All of our superheroes with Rett syndrome live extremely happy and fulfilling lives and are a pleasure to work with! We wouldn’t know where to start if we told you what they got up to during physio! Have a look at our social media for regular updates on all of our superheroes!

How can physiotherapy help?
Physiotherapy for children with Rett syndrome includes many fun activities! Most of our children communicate with Eye Gaze or communication books, and some of them previously said words. One of our superheroes has learned to use some Makaton signs, as well as being a pro at her Eye Gaze! We utilise these children’s ability to understand and communicate to work out their goals, what motivates them, what their favourite activities are and to build independence!

Gross motor skills
There are lots of resources and research to classify and explain children’s gross motor skills with Rett syndrome. Having the pleasure to work with so many Rett children has made us think differently and realise huge potential in these superheroes! Every child is different, but we find that lots of children with Rett syndrome have super strong legs and like to ‘lock’ their hips and knees into extension. We encourage more efficient and independent ways of moving through flexion activities and motor planning practice. We often use the Rett Gross Motor Score to measure progress over time and help us create bespoke goals.

Because Rett syndrome does not affect the muscles themselves (only the messages to them from the brain), their muscles are more than capable of getting stronger! Strength is so important to enable standing for healthy hips (and more importantly – fun!) and trunk strength is vital for preventing or delaying the worsening of scoliosis.

Maintaining range of movement
We have found that most children with Rett syndrome have very flexible joints with low muscle tone, their joints are so bendy they have the flexibility of a gymnast! However, this flexibility and ‘floppiness’ means that the majority of other physiotherapists, including NHS and private, do not measure range of movement, or monitor differences, over time. As they get older, children with Rett Syndrome are at risk of developing tightness in their joints and scoliosis, and the first signs of this are losing flexibility. Sometimes a child’s knee goes from ‘Elastigirl-bendy’, to ‘normal-bendy’ and physiotherapists can overlook this, thinking that ‘normal-bendy’ is not a problem. However, a quick change in any joint needs to be closely monitored to prevent or delay deformities later on in life. We monitor all of our Rett superheroes’ flexibility at least every six months, and more often during times of rapid growth or interventions such as Botox. Even our Mr Fantastic level superheroes!

Hip development
Healthy hips are vital for fun, function and playing! Children who start weight bearing later than their peers can be at risk of hip subluxation, and this can be prevented through active weight bearing and standing. Most physiotherapists use ‘passive standers’ which do not promote muscle activity, the most important thing for healthy hips! We are up to date with the best and most recent worldwide evidence, from countries ahead of the UK when it comes to hip subluxation. We create our own bespoke standing programmes, with active standing, abduction standing and passive standing, for the best combination for your superhero!

24-hour postural management
We LOVE equipment! It has the potential to change a superhero’s life and enable SO much fun! We value the importance of fully supportive equipment to enable fine motor skills such as feeding and Eye Gaze, partially supportive equipment for challenging and engaging core and balance muscles, and even equipment that throws superheroes OFF balance for a super challenge! Most of our Rett superheroes have all three types of equipment, from fully supportive feeding chairs, to less supportive therapy benches, to wibbly wobbliy gym balls and air-filled cushions! We know all the best equipment suppliers and representatives and will only recommend the best!

Function and participation
All of our superheroes’ bespoke physio goals are tailored towards socialising, fun and family function! Whatever your goal, whatever your superhero’s dreams, we will work tirelessly to make it happen.

Contact us to see if we can help!