Pitt Hopkins syndrome

Pitt Hopkins syndrome is a neurological condition caused by a genetic mutation. It can lead to low muscle tone and delayed gross motor skills, but we find that our superheroes with Pitt Hopkins syndrome present very differently amongst each other!

Pitt Hopkins syndrome affects chromosome 18 and the TCF4 gene. It can be caused by a loss or  deletion of part of the gene, hence different children having different presentations and characteristics.
We find that children with Pitt Hopkins syndrome have a lot of potential, which can often be overlooked by other professionals. It can cause some cognitive delays or intellectual disabilities, but when we work with our non-verbal clients, we know how to overcome these barriers, and they prove that they are very clever indeed! Lots of our physical work is actually training their mind, such as teaching saving reactions, and making seemingly dull tasks into functional ones!

Our superhero Tyler came to us when he was around 11 months old, a very determined 11-month old who could stand at a surface, but not sit! When we saw this, we KNEW he was playing tricks on us! And it turned out that little Tyler just didn’t like sitting! He had low muscle tone, so sitting and playing was much more effortful than lying and playing. Makes sense, right? So we used our magic hands, and transformed sitting into a fun and motivating task. Within one session, little Tyler could sit independently for up to ten minutes. He has now been working with us for a year, and is likely to take his first steps within the next six months. Go Tyler!

How can physiotherapy help?
Physiotherapy assesses gross motor skills and identify areas of delay, and suggests simple exercises to join different positions together to help to increase independence and motivation. Children with Pitt Hopkins syndrome tend to have low muscle tone and a weak core, the building block of so many gross motor skills. We work closely with our clients to improve these areas, and always make it fun and exciting!

Maintaining range of movement
Range of movement is a fancy way of saying how flexible a joint is. Sometimes, with muscle stiffness, a joint can lose flexibility, impacting on function and play. We measure this closely, and recommend assessment every six months for our Pitt Hopkins clients, as so much changes as these kids grow. If there are any concerns about joint range, we make a thorough plan to address this, before making appropriate referrals.

Hip development
Some kids with Pitt Hopkins Syndrome are delayed in weight-bearing activities such as kneeling, standing and walking. This places the hip in a different position, and one that is not optimal for hip development. So we work hard to implement an active standing programme for our clients who cannot yet stand independently. Evidence shows that this is the best way to avoid hip surgery later on in life.

Does your child have Pitt Hopkins syndrome and lots of potential? Contact us here.