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Both these questions are very difficult to answer as there are so few cases in the world to be able to make an accurate estimate. At present, it is thought that there are only a few thousand cases diagnosed in the world but many undiagnosed or misdiagnosed. Based on the experience from other rare diseases…

As far as is known to date, children with PTHS appear to have a normal life expectancy. However, seizures arising from epilepsy have their own inherent complications and this could affect life expectancy as with anyone else.

Many children with Pitt-Hopkins syndrome will not learn to talk or will have a vocabulary of just a few words but they will be able to understand far more than they can express. It can be very frustrating to them to have a larger receptive than expressive vocabulary and this can lead to some behavioural…

Most children with PTHS have hypotonia. This means they have low muscle tone and leads to delayed motor development. Most will learn to roll, sit, crawl and walk much later than other children. A few children will not manage to walk. All children with PTHS will need the input of a specialist paediatric physiotherapist. Some…

The main symptoms of the condition are severe learning disability, breathing abnormalities with intermittent periods of over breathing and daytime apnoea and characteristic facial features including a wide mouth, prominent lips and deep-set eyes. Individuals with Pitt-Hopkins syndrome are often short compared to other family members and have a small head size. Seizures may be…

Pitt-Hopkins syndrome is now most frequently referred to as PTHS. It is formed by taking the first and last letters of Pitt and the first letter of Hopkins , who were the two doctors who characterised the syndrome in 1978, together with the S for syndrome. This is to distinguish it from another rare syndrome…