Het meest voorkomende en ernstigste gastro-intestinale probleem bij CdLS is reflux, ook wel bekend als gastro-oesofageale reflux-ziekte (GERD, ofwel 'Gastroesophageal reflux disease'). 

Bij GERD is er sprake van zwakte van de spieren boven de maag waardoor er maagzuur in de slokdarm (oesofagus) terug kan stromen en dit veroorzaakt na enige tijd steeds ernstiger pijn (maagzuurbrand).



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.
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.
If GORD symptoms persist, endoscopy should be strongly considered whilst an individual with CdLS is still in paediatric care.
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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