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Cited by 17Genetics and Neurodevelopmental DisordersGallbladder and Bile Duct DisordersPediatric Hepatobiliary Diseases and Treatments

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

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Freilinger, Michael, Böhm, Michael, Lanator, Ines, Vergesslich‐Rothschild, Klara, Huber, Wolf‐Dietrich, Anderson, Alison, Wong, Kingsley, Baikie, Gordon +3 more·2014·Developmental Medicine & Child Neurology
DOI 10.1111/dmcn.12358
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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 MECP 2 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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  • RTT patients have inflammation of the gallbladder.

    “A number of patients present with dyslipidaemia [15,16], elevated plasma leptin and adiponectin [17,18], elevated ammonia [1] and inflammation of the gallbladder, an organ which stores bile for fat digestion [19].”

    From Rett syndrome: a neurological disorder with metabolic components (2018) · cites this paper as [19]

    The Methods (Part 1; page unavailable) include cholecystitis—gallbladder inflammation—among the conditions assessed in people with RTT, and the assessment guidelines discuss its presentation and treatment. However, the reported cases in Part 1 are identified as gallstones and/or cholecystectomy; our copy does not specify how many patients, if any, had cholecystitis. The claim is therefore supported as a recognized possible gallbladder condition in RTT, but not as a documented finding in the study's patients. (LLM, conf=0.79)

    Experimental — accuracy not yet measured

  • Metabolic complications are common in RTT.

    “Metabolic complications are also common in RTT.”

    From Rett syndrome: a neurological disorder with metabolic components (2018) · cites this paper as [19]

    The Introduction reports that gastrointestinal problems are common in RTT, but does not establish that metabolic complications are common. The Discussion mentions abnormal cholesterol metabolism in Mecp2-mutant mice and describes gallbladder disease in RTT as infrequent; neither establishes the claimed prevalence of metabolic complications in people with RTT. (LLM, conf=0.76)

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Cites

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Research works printed but not linked: 34

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Authors
Freilinger, M., Böhm, M., Lanator, I., Vergesslich‐Rothschild, K., Huber, W., Anderson, A., Wong, K., Baikie, G., Ravikumara, M., Downs, J., & Leonard, H.
Affiliations
  • Medical University of Vienna (AT)
  • Department of Paediatrics and Adolescent Medicine Medical University Vienna Vienna Austria
  • The Kids Research Institute Australia (AU)
  • Royal Children's Hospital (AU)
  • Princess Margaret Hospital for Children (AU)
Corresponding author
Leonard, Helen
ORCID
Venue
Developmental Medicine & Child Neurology
Publisher
Wiley
Published
2014-02-15
Volume
56
Issue
8
Pages
756-762
ISSN
  • 0012-1622 (ISSN-L)
  • 1469-8749
DOI
10.1111/dmcn.12358
OpenAlex
W2161675025
Cited by
17
References
1
Citations by year
2026: 1 · 2024: 2 · 2023: 1 · 2021: 1 · 2020: 3 · 2019: 4 · 2018: 1 · 2017: 2 · 2016: 1 · 2014: 1
FWCI
0.88
Type
journal article
Language
en
Open access
Licence
onlinelibrary.wiley.com/termsAndConditions#vor (vor)
Locations
  • Developmental Medicine & Child Neurology (publishedVersion)
  • PubMed (publishedVersion)
  • UWA Profiles and Research Repository (UWA) (submittedVersion)
  • eSpace (Curtin University) (submittedVersion)
Funders
  • NHMRC (1004384, 303189, 353514, 572568)
  • Rett UK
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Gallbladder and Bile Duct Disorders
  • Health Sciences › Medicine › Surgery › Pediatric Hepatobiliary Diseases and Treatments
Keywords
Rett syndrome, gallbladder disease, gallstones, cholecystectomy, gallbladder contractility, MECP2 mutations, prevalence, abdominal pain, differential diagnosis, gallbladder ultrasound, clinical management guidelines
MeSH terms
Adolescent, Adult, Child, Child, Preschool, Female, Follow-Up Studies, Gallbladder Diseases, Humans, Middle Aged, Rett Syndrome, Prevalence, Databases, Factual, Methyl-CpG-Binding Protein 2, Young Adult

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