Koolen de Vries syndrome

What is Koolen syndrome?
Koolen syndrome is an umbrella term for deletion abnormalities affecting chromosome 17. People with Koolen syndrome have a range of differences across a broad spectrum, usually including low muscle tone or hypotonia, particularly in childhood, muscle weakness, facial differences, learning disabilities, a happy and sociable personality, and sometimes heart defects.

We visit gyms with our differently-abled superheroes! copy

Our superheroes
BBP’s superheroes with Koolen syndrome are funny and extremely friendly! We work on balance, exercise endurance and strengthening work. One of our friends has left school, and likes to keep up his fitness like his other mainstream friends who enjoy the gym! So Team BBP take this super-strong hero to the gym to work on weightlifting and the exercise bike. Someday, he hopes to complete a chin up!

How can physiotherapy Help?
Physiotherapy intervention for Koolen syndrome depends on your child’s likes and dislikes, and what motivates them! We typically work on exercises to get the heart going and the blood pumping!

Exercise endurance and tolerance
Lots of our BBP stars with Koolen syndrome have low muscle tone, and therefore exercise and daily tasks are more difficult for them, because they are working harder. This leads to reduced motivation, or a reluctance to perform physical activity, which can exasperate the problem by reducing fitness. It is also more common to gain weight, which can heighten the problems further. At BBP, we introduce exercise gradually, slowly building up tolerance over time. We look holistically at long-term goals. And in children with Koolen syndrome, as with any other children, we want exercise to be an enjoyable and sustainable part of their life in the future. We get to know your superhero, what motivates them, and how we can incorporate this into their exercise regime for maximum participation.

Gross motor skills
Children with Koolen syndrome usually have delayed gross motor skills; meaning they reach milestones later than their typically developing peers, such as rolling and crawling. We aim to progress these skills with expert handling and positioning to eliminate gravity and put the muscles in the best position for activation. We improve motor planning and body awareness, useful for independent transitions, and make sure parents are empowered to carry out these tasks during daily play. All exercises are provided in picture format with detailed instructions as a reminder.

Strengthening muscles is useful for efficient movements in children with Koolen syndrome. Often, these children have muscle imbalances – due to low tone, they often compensate with other muscles. This is not the way the body was designed to move, and can cause fatigue and reduce motivation for physical activity. We are gurus in assessing muscle imbalances and working to improve the weakness and lengthen the tight muscles, leading to more efficient movements and less fatigue.

We are specialists in the prescription of insole and footwear combinations

Supportive footwear
Lots of children with Koolen syndrome have hyper-mobility, or increased flexibility, in their joints. When this happens in the ankle joints, it can cause further inefficiency in walking, as well as frequent ankle sprains. We are very experienced in assessing foot posture, and in comprehensive gait analyses. We have access to our own supportive insoles and will recommend only the best bespoke footwear and insert combination to achieve an efficient gait. We know high-quality orthotics clinics for more supportive ankle and leg supports, if needed.

We can arrange children’s physiotherapy sessions in London Schools

Education for other professionals
A lot of physiotherapy intervention can be integrated into daily activities, and this happens best when all adults in the superhero’s life are aware of how to encourage activities. We are passionate about educating staff and giving creative ideas to incorporate physiotherapy into home, school, play and socialising. We can arrange physiotherapy training sessions for teachers, parents, carers and other professionals in environments such as schools, day services and nurseries.

Function and participation
Your superhero will be set some functional short-, medium- and long-term goals, based on their favourite activities and what they like doing. These will be reviewed regularly, and their newly found skills will be put into action on adventures! We have taken one of our stars with Koolen syndrome to a trampoline park, where she enjoyed jumping and walking over the unstable surfaces.

Contact us to find out if we would be a good fit to help your child!