Prevalence, clinical investigation, and management of gallbladder disease in Rett syndrome

Michael Freilinger, Michael Böhm, Ines Lanator, Klara Vergesslich-Rothschild, Wolf Dietrich Huber, Alison Anderson, Kingsley Wong, Gordon Baikie, Madhur Ravikumara, Jenny Downs, Helen Leonard

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8 Citations (Scopus)

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 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. Interpretation: Gallbladder disease is relatively common in RTT and should be considered in the differential diagnosis of abdominal pain in RTT.

Original languageEnglish
Pages (from-to)756-762
Number of pages7
JournalDevelopmental Medicine and Child Neurology
Volume56
Issue number8
DOIs
Publication statusPublished - 2014
Externally publishedYes

Cite this

Freilinger, M., Böhm, M., Lanator, I., Vergesslich-Rothschild, K., Huber, W. D., Anderson, A., ... Leonard, H. (2014). Prevalence, clinical investigation, and management of gallbladder disease in Rett syndrome. Developmental Medicine and Child Neurology, 56(8), 756-762. https://doi.org/10.1111/dmcn.12358
Freilinger, Michael ; Böhm, Michael ; Lanator, Ines ; Vergesslich-Rothschild, Klara ; Huber, Wolf Dietrich ; Anderson, Alison ; Wong, Kingsley ; Baikie, Gordon ; Ravikumara, Madhur ; Downs, Jenny ; Leonard, Helen. / Prevalence, clinical investigation, and management of gallbladder disease in Rett syndrome. In: Developmental Medicine and Child Neurology. 2014 ; Vol. 56, No. 8. pp. 756-762.
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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 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. Interpretation: Gallbladder disease is relatively common in RTT and should be considered in the differential diagnosis of abdominal pain in RTT.",
author = "Michael Freilinger and Michael B{\"o}hm and Ines Lanator and Klara Vergesslich-Rothschild and Huber, {Wolf Dietrich} and Alison Anderson and Kingsley Wong and Gordon Baikie and Madhur Ravikumara and Jenny Downs and Helen Leonard",
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Freilinger, M, Böhm, M, Lanator, I, Vergesslich-Rothschild, K, Huber, WD, Anderson, A, Wong, K, Baikie, G, Ravikumara, M, Downs, J & Leonard, H 2014, 'Prevalence, clinical investigation, and management of gallbladder disease in Rett syndrome', Developmental Medicine and Child Neurology, vol. 56, no. 8, pp. 756-762. https://doi.org/10.1111/dmcn.12358

Prevalence, clinical investigation, and management of gallbladder disease in Rett syndrome. / Freilinger, Michael; Böhm, Michael; Lanator, Ines; Vergesslich-Rothschild, Klara; Huber, Wolf Dietrich; Anderson, Alison; Wong, Kingsley; Baikie, Gordon; Ravikumara, Madhur; Downs, Jenny; Leonard, Helen.

In: Developmental Medicine and Child Neurology, Vol. 56, No. 8, 2014, p. 756-762.

Research output: Contribution to journalArticleResearchpeer-review

TY - JOUR

T1 - Prevalence, clinical investigation, and management of gallbladder disease in Rett syndrome

AU - Freilinger, Michael

AU - Böhm, Michael

AU - Lanator, Ines

AU - Vergesslich-Rothschild, Klara

AU - Huber, Wolf Dietrich

AU - Anderson, Alison

AU - Wong, Kingsley

AU - Baikie, Gordon

AU - Ravikumara, Madhur

AU - Downs, Jenny

AU - Leonard, Helen

PY - 2014

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N2 - 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 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. Interpretation: Gallbladder disease is relatively common in RTT and should be considered in the differential diagnosis of abdominal pain in RTT.

AB - 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 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. Interpretation: Gallbladder disease is relatively common in RTT and should be considered in the differential diagnosis of abdominal pain in RTT.

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U2 - 10.1111/dmcn.12358

DO - 10.1111/dmcn.12358

M3 - Article

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JO - Developmental Medicine and Child Neurology

JF - Developmental Medicine and Child Neurology

SN - 0012-1622

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