Gastrointestinal dysmotility in Rett syndrome

J Pediatr Gastroenterol Nutr. 2014 Feb;58(2):237-44. doi: 10.1097/MPG.0000000000000200.


Objectives: Through evidence review and the consensus of an expert panel, we developed recommendations for the clinical management of gastroesophageal reflux disease, constipation, and abdominal bloating in Rett syndrome.

Methods: Based on review of the literature and family concerns expressed on RettNet, initial draft recommendations were created. Wherein the literature was lacking, 25 open-ended questions were included. Input from an international, multidisciplinary panel of clinicians was sought using a 2-stage modified Delphi process to reach consensus agreement. Items related to the clinical assessment and management of gastroesophageal reflux disease, constipation, and abdominal bloating.

Results: Consensus was achieved on 78 of 85 statements. A comprehensive approach to the assessment of gastroesophageal reflux and reflux disease, constipation, and abdominal bloating was recommended, taking into account impairment of communication skills in Rett syndrome. A stepwise approach to the management was identified with initial use of conservative strategies, escalating to pharmacological measures and surgery, if necessary.

Conclusions: Gastrointestinal dysmotility occurs commonly in Rett syndrome. These evidence- and consensus-based recommendations have the potential to improve care of dysmotility issues in a rare condition and stimulate research to improve the present limited evidence base.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Consensus*
  • Constipation / complications
  • Constipation / therapy*
  • Delphi Technique
  • Evidence-Based Medicine
  • Gastroesophageal Reflux / complications
  • Gastroesophageal Reflux / therapy*
  • Gastrointestinal Motility*
  • Humans
  • Practice Guidelines as Topic*
  • Rett Syndrome / complications*