In January 2019, the Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement was published. It was the result of collaboration with a group of international experts, national support groups and families that attended the first Pitt-Hopkins syndrome World Congress in 2018.

In it are 40 recommendations for managing particular health problems such as hyper breathing and apnoea. There is an emphasis on the need for integration of care for physical and behavioural issues. The abstract of this paper, with a list of the authors can be found here. This is a paper published in Clinical Genetics and needs a subscription to be read.

Professor Hennekam of the University of Amsterdam Medical Centre believed it would be best if the above paper was used to produce another document that highlighted the basic points of each section, the most relevant facts and the corresponding recommendations in lay-terms which has been named the Parent-friendly Guidelines.

Professor Hennekam worked on this with Sue Routledge, a parent and Nathan Routledge, a sibling of someone with Pitt-Hopkins syndrome. This was then translated by a computer programme into Dutch, French, German, Italian Spanish, Portuguese and Polish.

Most of these translations were then each checked by a native speaker, each with a child with Pitt-Hopkins syndrome, against the English version.

More recently the English version of the Parent-friendly Guidelines was revised by Charlotte Rastan, an experienced copywriter with Sue Routledge, and checked for accuracy by Professor Raoul Hennekam and Professor Jill Clayton-Smith. A script for a short video/slide show was also written and checked.

This was made to signpost the Parent-friendly Guidelines here on the UK website.

In 2020, Pitt Hopkins UK was awarded a grant for “improved accessibility for information and support during the COVID crisis” by the National Lottery HM Government and was able to use some of this funding to make the booklet which began to be distributed in late January 2021. The design is by Melissa Stewart and the photos of children and adults with Pitt-Hopkins syndrome were kindly supplied by parents from the Pitt Hopkins UK support group.

This booklet contains the 40 recommendations from the Consensus Statement and a very brief summary of each of the 14 sections written by Charlotte Rastan. We hope to use the booklet and the PDF to help families with a child with Pitt-Hopkins syndrome should the diagnosis be very new or maybe over a decade old. Our hope is it will be useful when a new doctor or therapist meets someone with Pitt-Hopkins syndrome for the first time and to give a brief overview of Pitt-Hopkins syndrome to anyone who reads it.

Parent-friendly Guidelines

Clinical Guidelines

  1. Introduction
  2. Diagnostic criteria
  3. DNA studies
  4. Prenatal studies
  5. Gastroenterology
  6. Respiration
  7. Senses
  8. Neurology
  9. Orthopedics
  10. Paediatric Medical Follow-Up
  11. Adult Medical Follow-Up
  12. Care Planning
  13. Cognition and Behavior
  14. Conclusion