What is Pfeiffer syndrome?
Pfeiffer syndrome is caused by a genetic mutation, and leads to differences in facial features, cognitive differences, gross motor delays, and abnormal muscle tone. Some superheroes with Pfeiffer syndrome have a short stature, and skeletal differences (difference in their joints and limbs).
The physical differences in Pfeiffer syndrome are caused by the wrong messages going to the muscles. There is nothing wrong with the muscles themselves, but they can become tight, stiff or weak due to communication differences from the brain.
BBP’s superheroes with Pfeiffer syndrome are very different to each other, with their own unique set of talents and strengths! Seven-year-old Rory loves to draw, and is learning to speak verbally with his speech and language therapist. He is becoming so good at speaking in sentences! Rory practises straightening his legs in his gaiters, for a hamstring stretch. He loves playing his Xbox at the same time as stretching, and is really good at his gaming!
How can physiotherapy help?
Physiotherapy intervention for Pfeiffer syndrome can vary depending on the superhero and their favourite activities, and strengths. Usually we focus on fun gross motor skills, maintaining flexibility, and participation in daily kids’ shenanigans!
Gross motor skills
Children with Pfeiffer syndrome tend to have delays in their gross motor skills, and may not reach their physical milestones at the same time as their peers. Here at BBP, we don’t let this get in the way of playing! We teach children to be independent despite their physical limitations, working around motor planning, body awareness and strengthening to improve participation in play. We build our programmes into the school day, with a recommended routine for different times of the day, and we teach parents, carers and teachers how to effectively carry out the exercises.
Sometimes there are subtle weaknesses in our superheroes with Pfeiffer syndrome, and strengthening these makes all the difference when it comes to playing! We make resistance work fun and turn hard work into fun work! Our superheroes have competitions with us regularly, and they always beat Team BBP!
Maintaining range of movement
Due to the wrong messages travelling to the muscles, superheroes with Pfeiffer syndrome can have signs of hypertonia or hypotonia. This can lead to stiffness in the joints, which can have an impact on function later in life. We are passionate about maintaining flexibility in all of our superheroes’ joints and will work with our families to get the best out of our clients. Whether that is joined-up working with paediatricians, orthopaedic clinics, and orthotists, working out a sustainable and fun stretching programme, or carrying out active stretching in physio session, we are experts at everything superhero! We have our own range of movement assessment template, and also develop our own bespoke outcome measures for all of our superheroes, so their progress is clear and measurable.
Sometimes superheroes with Pfeiffer syndrome have shallow hip sockets which are prone to subluxation, or migrating out of the socket. We are in tune with all of the latest evidence, and use this and our many years of experience to make sure your superhero has a realistic and sustainable hip management programme in place. Most physiotherapists include passive standing frames only in their standing plans. However we believe in our clients’ superpowers and split our standing programmes into active and passive standing.
Function and participation
Your superhero will be set some physio goals, tailored to their specific needs, what motivates them, and their favourite activities. All of our short- and medium-term goals are part of the ‘Big Plan’ and are components of a fun, functional task, broken down into smaller bitesize chunks!
Reach out to our team to find out how we can help your superhero!