About these guidelines

Pitt-Hopkins syndrome (or PTHS) is a rare genetic condition that affects a child’s development and causes learning disabilities. It’s so rare that up to now there have been no clear guidelines for doctors on how to diagnose and manage the condition.

Doctors, psychologists, support groups and families from all over the world got together to put this right. They collected all the knowledge from research and their own experience and discussed the results at the first PTHS world conference in May 2018.

The result was the first internationally-agreed guidelines on how to diagnose Pitt-Hopkins and how to care for and manage a child or adult when problems arise.

I’m a parent; how can these guidelines help me?

* Read about the signs and symptoms that are used to diagnose Pitt-Hopkins.

* Find out , about problems that might arise, and how best to manage them with the help of doctors and specialists

* See the 40 recommendations that together make up best practice medical guidance on looking after someone with Pitt-Hopkins.

Because Pitt-Hopkins is a very rare condition, your doctorhas probably never come across it before. You can share the guidelines with doctors to make sure the child or adult you’re caring for gets all the tests and treatments he or she needs.

Diagnosing Pitt-Hopkins: the signs and symptoms

Genetic tests

Prenatal tests for further pregnancies

Digestive problems

Changes in breathing

Senses: vision, hearing, smell and pain

Seizures and other neurological problems

Muscles and bones

Checks and care for babies and children

Checks and care for adults

Planning lifelong care

Learning and behaviour

Summary of recommendations

Areas for future research

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