Pitt Hopkins UK
Who we are
Pitt Hopkins UK raises awareness of Pitt-Hopkins syndrome (PTHS) among health professionals and supports the familes of both adults and children with PTHS delivering important up-to-date information and encouraging future research.
We have been a registered UK charity for 5 years. We have six trustees all of whom have family members with Pitt-Hopkins syndrome.
PTHS is a neurodevelopmental condition which causes delayed motor development and moderate to severe intellectual disability. Children with PTHS tend to be either non-verbal or have a limited vocabulary. In many cases, they may have severe constipation while some can have reflux. Signs of PTHS can include daytime apnoea and hyperventilation.
Our goal is to raise awareness among health professionals to be able to identify someone with Pitt- Hopkins syndrome as well as to find parents of children dealing with PTHS via our social media. Our fundraising goals are to support and advocate for parents while delivering the latest information to families and invest into the much-needed research about the breathing anomalies and the dysfunctional autonomic system which interfere with the quality of life of those with PTHS.
Management guidelines have been developed under the guidance of Professor Raoul Hennekam in the Netherlands and are in parent-friendly language on our website. We have also shared them via the Google Groups, Facebook groups, Facebook pages, RareConnect and our free app. We also have produced a booklet with the 40 recommendations from the guidelines which can be sent to families and is also available as a pdf on our website. We also have a video in English kindly shared with us by the Dutch Pitt-Hopkins charity which you can view on our website www.pitthopkins.org.uk.
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