Breathing Abnormalities in Pitt Hopkins Syndrome
Pitt Hopkins Syndrome (PTHS) is an ultra-rare condition caused by a genetic mutation on chromosome 18. PTHS is associated with characteristic physical features, developmental delay and learning difficulties. Many patients also experience frequent episodes of hyper-breathing and/or apnoea. Pitt Hopkins UK is interested in learning more about these breathing abnormalities: why do they affect only some people, what are the long-term consequences, and how can they be treated?
Pitt Hopkins UK and the PLRH have now teamed up with geneticists and respiratory researchers in Cardiff and Bristol to look into these symptoms. The project is in early stages of study design.