British Paediatric Surveillance Unit (BPSU) study of ROHHAD syndrome

Team leader: Dr Katherine Hawton, University Hospitals Bristol and Weston NHS Foundation Trust (UHBW)

Overview

ROHHAD is a rare syndrome which causes life-threatening obesity, trouble breathing at night, a range of hormone problems and an irregular heartbeat. Children often need masks and machines to breathe at night, take hormone tablets and injections for the rest of their lives, as well as having a higher risk of getting certain types of cancer in their lifetimes.

We do not know why children get this syndrome. There is no single test for diagnosis, and it can take a long time for families to get a diagnosis. We do not yet know of any treatments that can cure the syndrome. As ROHHAD is rare, many doctors will not have heard of it.

We think that more children have this condition than is currently recognized and we want to find out how many children it affects in the United Kingdom (UK). We urgently need to know more about ROHHAD and how patients are being cared for. We would also like to raise awareness about ROHHAD.

Co-leader: Prof Julian Hamilton-Shield, University of Bristol

For a year, all senior children’s doctors in the UK and Republic of Ireland will be asked each month to record any children they have seen with symptoms suggestive of ROHHAD. We will then ask the doctors for more anonymous details of the child, family and illness and any treatment they have had.

This study will help to estimate how many children have ROHHAD, more about the condition and how it is being managed. We hope that the study will improve the chances of children getting an early diagnosis and treatment. This study could also help many children who may develop ROHHAD in the future. We will share our results from the study with as many people as possible to help improve how we care for patients with ROHHAD.

This study is being funded by the British Society of Paediatric Endocrinology and Diabetes (BSPED).

How can you participate?

All Consultant Paediatricians in the UK and Republic of Ireland will be asked by the BPSU for a 13-month period to report any cases fulfilling the surveillance criteria for ROHHAD.  

Surveillance criteria: All existing and new cases (under 16 years) seen in the last month (in the UK/RoI) fulfilling this case definition of ROHHAD not previously notified:

  • 1) Rapid onset of obesity in childhood after 12 months of age in a previously healthy child

    • Evidence of crossing three major centile lines for weight within a 12-month period (e.g. 9th to 75th centile)

    • Or family photographic evidence of highly significant weight gain in 12 months, if no baseline weight measurement

    AND

  • 2) Sleep disordered breathing requiring overnight respiratory support

Meet the Team

Lead Investigator: Dr Katherine Hawton, University Hospitals Bristol and Weston NHS Foundation Trust (UHBW)

Co-investigators: Prof Julian Hamilton-Shield, University of Bristol; Dr Elizabeth Crowne, UHBW; Dr Dinesh Giri, UHBW; Dr Simon Langton-Hewer, UHBW; Prof Tim Barrett, University of Birmingham; Dr Juliette Oakley, UHBW; Ms Rosemary Greenwood, UHBW; Dr Eirin Carolan, Children’s Health Ireland, Crumlin, Dublin; Dr Guftar Shaikh, Royal Hospital for Children, Glasgow; Dr Georgina Williams, University Hospital of Wales, Cardiff

If you would like to get in contact or have any questions about the study please contact: ROHHAD@uhbw.nhs.uk