What is Kabuki syndrome?
Kabuki syndrome is a developmental disorder caused by a genetic mutation. Superheroes with Kabuki syndrome have differing characteristics across a wide spectrum. Differences include facial features, intellectual disabilities, gross motor delays, short stature and skeletal differences.
What are the physical symptoms?
Children with Kabuki syndrome may have weaknesses in core stability and some global mover muscles, for example the gluteals (hips) and quadriceps (thighs). Usually Kabuki syndrome superheroes have some gross motor skills delay, meaning they reach their physical milestones, such as sitting and walking, later than their peers. Sometimes kids with Kabuki syndrome can walk independently but find balance tasks difficult, for example, climbing and descending stairs, putting trousers on, or playing on playground equipment.
Our superheroes
Some of our long term BBP clients with Kabuki syndrome focus on skills such as transitions and head control, to increase their independence. Others work on improving their walking pattern, or gait and complex global movement tasks. One of our superheroes is seen by Team BBP in school and enjoys playing on his scooter! When he initially came to us, he could not transfer weight from one leg to the other, and ‘walked’ with his scooter. After working hard on single leg squats, while reaching for his favourite ‘Hatchimal’ toys on the floor, he is now able to scoot super-fast! He can put all of his body weight on the scooter, gliding along at speed, catching up with all of his friends!
How can physiotherapy help?
Physiotherapy helps to achieve functional skills useful for playing and having fun, through strengthening, improving gross motor skills, and devising optimum management programmes for positioning and integration of exercises into school and play.
Gross motor skills
Children with Kabuki syndrome sometimes have gross motor delay because of their condition and their muscle weakness, and other times because of their learning disability. The cause of their gross motor delay is vital in determining how to progress these skills. We are gurus in assessing the root of the gross motor delay and plan our treatment to address this specifically. This could include expert handling skills to increase your superhero’s body awareness and motor planning, or it could involve strengthening work made fun with our creative and original play skills! Whatever the cause of your superheroes delays, it is our passion to help all children reach their full physical potential!
Maintaining range of movement
Some children with Kabuki syndrome may have associated high muscle tone, or hypertonia. This muscle stiffness can lead to permanent loss of flexibility at the joints. At BBP, we closely monitor all of our superhero’s range of movement, and make sure we pick up on any signs of stiffness and come up with intervention plans to maintain flexibility.
Hip development
Hips are developed into strong ball and socket joints through weight-bearing and loading activities, such as four-point kneeling, high kneeling, standing and walking. If children with Kabuki syndrome are behind on their skills, their hips may not develop optimally. We are in tune with all of the latest evidence on hip development, and will recommend programmes and exercises, and request x-rays from GPs when required.
Function and participation
All of our physiotherapy intervention is aimed at one thing: helping your superhero have fun! Whether that’s bouncing on a trampoline, sitting up in class during circle time, or riding a trike, you name it, and we will work on the most important things in your child’s life. We are skilled in all kinds of communication, not just verbal. We will learn what your child with Kabuki syndrome likes and doesn’t like and will motivate them with everything we do!
Get in touch with our friendly administrator, Hannah, to find out how we can support your superhero with kabuki syndrome!