Information

Reflux

 For parents, caregivers, health care providers, and teachers, concerns and questions often arise regarding the care and well-being of individuals with Cornelia de Lange syndrome. 

The most common and severe gastrointestinal problem in CdLS is reflux, otherwise known as gastro-oesophageal reflux disease (GORD). 

GORD is a condition in which a weakness in the muscles above the stomach allows stomach acid to travel into the oesophagus.

Recommendation(s)

Reflux

R32
Consider always gastro-oesophageal reflux disease (GORD) in any individual with CdLS owing to its frequency and wide variability in presentation, which includes challenging behaviour.
R33
Modification of nutrition and proton pump inhibitors (PPI) are the first-line treatments of GORD. Anti-reflux medications need to be used to their maximum dosage. Surgical interventions for GORD should be limited to those individuals with CdLS in whom nutritional and medical treatments have been unsuccessful or airway safety is at risk.
R34
If GORD symptoms persist, endoscopy should be strongly considered whilst an individual with CdLS is still in paediatric care.
R35
Surveillance for Barrett’s Oesophagus needs to be discussed with and decided together with the family, balancing the potential gain in health and burden for the individual with CdLS.

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