Current studies on the eReporting card

Dr Katherine Hawton
Paediatric Registrar
University Hospitals Bristol and Weston NHS Foundation Trust (UHBW) ROHHAD@uhbw.nhs.uk

Co-investigators

• Prof Julian Hamilton-Shield, UHBW
• 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

Rapid-onset obesity with hypoventilation, hypothalamic dysfunction and autonomic dysregulation (ROHHAD) is a rare condition which causes life-threatening obesity, trouble breathing at night, a wide 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 and have a greater cancer risk.

We do not know why children get this condition and as there is no single test for diagnosis, it can take a long time for families to get a diagnosis. We do not yet know of any treatments that can cure the condition.

This study will help to estimate how many children have ROHHAD and understand more about the condition and how it is being managed.

Please report any patients under the age of 15 years with:

i. Rapid onset of obesity in childhood after 12 months of age in a previously healthy child

a. with evidence of crossing three major centile lines for weight within a 12-month period (eg 9th to 75th centile)

b. or family photographic evidence of highly significant weight gain in 12 months, in cases with no baseline weight measurement
AND

ii. Sleep-disordered breathing requiring overnight respiratory support

Exclusion, any of:

1. Evidence of structural abnormality of hypothalamic-pituitary axis on MRI
2. Congenital structural brain abnormality eg, septo-optic dysplasia
3. Acquired brain injury e.g., craniopharyngioma
4. Other causes identified for obesity eg, Prader Willi syndrome, monogenic obesity
5. PHOX2B variant associated with congenital central hypoventilation syndrome

Please report all existing and new cases you have seen in the last month fulfilling this case definition of ROHHAD (in the UK and Republic of Ireland) not previously notified.

BPSU surveillance will be undertaken for 13 months, commencing with the October 2024 card.

British Society of Paediatric Endocrinology and Diabetes (https://www.bsped.org.uk/)

The study was approved by the Research Ethics Committee and the Health Research Advisory Group (England and Wales) (REC Reference 22/SW/0040; IRAS project ID 277788), the Public Benefit and Privacy Panel (Scotland), the Privacy Advisory Committee (Northern Ireland) and has been granted Section 251 HRA-CAG permission (CAG reference: 22/CAG/0040).