title: Gastrointestinal dysmotility in Rett syndrome.
abstract: OBJECTIVE
  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.
authors.affiliation: *Department of Developmental Medicine, Royal Children's Hospital, Murdoch Children's Research Institute, Melbourne †Department of Gastroenterology, Princess Margaret Hospital for Children ‡Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia, Perth, Australia §Department of Pediatrics ||Civitan International Research Centre, University of Alabama, Birmingham, AL ¶Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Edmond and Lily Safra Children's Hospital, Tel-Hashomer, Israel #Western Sydney Genetics Program, Children's Hospital at Westmead, Discipline of Paediatrics and Genetic Medicine, University of Sydney, Sydney, Australia.
authors.forename: Gordon
authors.initials: G
authors.lastname: Baikie
authors.forename: Madhur
authors.initials: M
authors.lastname: Ravikumara
authors.forename: Jenny
authors.initials: J
authors.lastname: Downs
authors.forename: Nusrat
authors.initials: N
authors.lastname: Naseem
authors.forename: Kingsley
authors.initials: K
authors.lastname: Wong
authors.forename: Alan
authors.initials: A
authors.lastname: Percy
authors.forename: Jane
authors.initials: J
authors.lastname: Lane
authors.forename: Batia
authors.initials: B
authors.lastname: Weiss
authors.forename: Carolyn
authors.initials: C
authors.lastname: Ellaway
authors.forename: Katherine
authors.initials: K
authors.lastname: Bathgate
authors.forename: Helen
authors.initials: H
authors.lastname: Leonard
mesh_terms: D032921:Consensus; D003248:Constipation / Q000150:complications / Q000628:therapy*; D003697:Delphi Technique; D019317:Evidence-Based Medicine; D005764:Gastroesophageal Reflux / Q000150:complications / Q000628:therapy*; D005769:Gastrointestinal Motility; D006801:Humans; D017410:Practice Guidelines as Topic; D015518:Rett Syndrome / Q000150:complications*