title: Prevalence, clinical investigation, and management of gallbladder disease in Rett syndrome.
abstract: OBJECTIVE
  This study determined the prevalence of cholelithiasis and/or cholecystectomy in Rett syndrome, described gallbladder function in a clinical cohort, and identified recommendations for assessment and management of gallbladder disease.
  
  
  METHODS
  The incidence of cholelithiasis/cholecystectomy was estimated from data describing 270 and 681 individuals with a pathogenic MECP2 mutation in the Australian Rett Syndrome Database and the International Rett Syndrome Phenotype Database respectively. Gallbladder function in 25 females (mean age 16y 5mo, SD 20y 7mo, range 3y 5mo-47y 10mo) with Rett syndrome (RTT) was evaluated with clinical assessment and ultrasound of the gallbladder. The Delphi technique was used to develop assessment and treatment recommendations.
  
  
  RESULTS
  The incidence rate for cholelithiasis and/or cholecystectomy was 2.3 (95% confidence interval [CI] 1.1-4.2) and 1.8 (95% CI 1.0-3.0) per 1000 person-years in the Australian and International Databases respectively. The mean contractility index of the gallbladder for the clinical sample was 46.5% (SD 38.3%), smaller than for healthy individuals but similar to children with Down syndrome, despite no clinical symptoms. After excluding gastroesophageal reflux, gallbladder disease should be considered as a cause of abdominal pain in RTT and cholecystectomy recommended if symptomatic.
  
  
  CONCLUSIONS
  Gallbladder disease is relatively common in RTT and should be considered in the differential diagnosis of abdominal pain in RTT.
authors: Department of Paediatrics and Adolescent Medicine, Medical University Vienna, Vienna, Austria.
authors: Michael
authors: M
authors: Freilinger
authors: Michael
authors: M
authors: Böhm
authors: Ines
authors: I
authors: Lanator
authors: Klara
authors: K
authors: Vergesslich-Rothschild
authors: Wolf-Dietrich
authors: WD
authors: Huber
authors: Alison
authors: A
authors: Anderson
authors: Kingsley
authors: K
authors: Wong
authors: Gordon
authors: G
authors: Baikie
authors: Madhur
authors: M
authors: Ravikumara
authors: Jenny
authors: J
authors: Downs
authors: Helen
authors: H
authors: Leonard
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D016208:Databases, Factual; D005260:Female; D005500:Follow-Up Studies; D005705:Gallbladder Diseases / Q000453:epidemiology / Q000503:physiopathology* / Q000628:therapy; D006801:Humans; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics; D008875:Middle Aged; D015995:Prevalence; D015518:Rett Syndrome / Q000175:diagnosis / Q000453:epidemiology* / Q000628:therapy*; D055815:Young Adult
chemical_list: C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2