Journal article
Prevalence, clinical investigation, and management of gallbladder disease in Rett syndrome
M Freilinger, M Böhm, I Lanator, K Vergesslich-Rothschild, WD Huber, A Anderson, K Wong, G Baikie, M Ravikumara, J Downs, H Leonard
Developmental Medicine and Child Neurology | WILEY | Published : 2014
DOI: 10.1111/dmcn.12358
Abstract
Aim: 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. Method: 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 tech..
View full abstractGrants
Awarded by National Institute of Child Health and Human Development
Funding Acknowledgements
We are indebted to the families for their continued support throughout the study; we thank the Austrian Rett Syndrome Society for their administrative assistance and Rett UK for funding the development of guidelines. The authors also acknowledge the International Rett Syndrome Foundation (IRSF previously IRSA) for their ongoing support of the InterRett project and their continued encouragement of this international collaboration. The Australian Rett Syndrome Study was funded by the National Institutes of Health (5R01HD043100-05) and also by the National Health and Medical Research Council (NHMRC) project grant 303189 for certain clinical aspects. Helen Leonard was previously funded by a NHMRC programme grant 353514. Her current funding is from an NHMRC Senior Research Fellowship 572568. The funders have not been involved in decisions pertaining to study design, data collection, data analysis, manuscript preparation nor publication decisions. We also acknowledge the expert panel in the Delphi technique. (Names of the panel members can be found in Appendix S1, online supporting information). The authors have reported no conflicts of interest or financial associations.