ArticleJournal of pediatric gastroenterology and nutrition2019
Biliary Tract Disease in Girls and Young Women With Rett Syndrome.
Article in Journal of pediatric gastroenterology and nutrition, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 17 citations in OpenAlex.
- Utilization of Non-pharmacological Interventions in Rett Syndrome: A Systematic Review of the Literature on Supportive Care Management.Neurology and therapy · 2026Review
- When Neurodevelopment Meets Autoimmunity: Pemphigus Foliaceus in Rett Syndrome Expands the Clinical Spectrum-A Case Report.International journal of molecular sciences · 2026Article
- Reasons for delayed medical treatment among cholelithiasis patients: a qualitative study based on the health belief model.BMC health services research · 2026Article
- Rett syndrome: The Natural History Study journey.Annals of the Child Neurology Society · 2024Review
- Nutritional and gastrointestinal manifestations in Rett syndrome: long-term follow-up.European journal of pediatrics · 2024Article
- MECP2-related disorders while gene-based therapies are on the horizon.Frontiers in genetics · 2024Review
- Exploring gastrointestinal health in MECP2 duplication syndrome.Neurogastroenterology and motility · 2023Article
- Pain research and children and adolescents with severe intellectual disability: ethical challenges and imperatives.The Lancet. Child & adolescent health · 2023Review
- Movement Disorders and the Gut: A Review.Movement disorders clinical practice · 2022Review
- Rett syndrome: think outside the (skull) box.Faculty reviews · 2021Review
- Assessment of the gut bacterial microbiome and metabolome of girls and women with Rett Syndrome.PloS one · 2021Article
- Consensus guidelines on managing Rett syndrome across the lifespan.BMJ paediatrics open · 2020Article
- Multisystem comorbidities in classic Rett syndrome: a scoping review.BMJ paediatrics open · 2020Article
Corrections and comments
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Authors and funding
10 authors at 6 institutions in 1 country.
Funding
Abstract
objectiveWe reviewed medical records and conducted a nationwide survey to characterize the clinical features and determine the prevalence of biliary tract disease in girls and women with Rett syndrome (RTT).
methodsSixty-two individuals with RTT and biliary tract disease were identified from the membership of Rett Syndrome Organization and patient files of the principal investigator. Medical records of 46 individuals were reviewed for presenting features, diagnostic tests, and treatment outcomes of biliary tract disease. We designed a questionnaire that probed the frequency of risk factors and treatment outcomes of biliary tract disease in RTT. The questionnaire was completed by 271 parents whose daughters met the clinical criteria for RTT and/or had MECP2 mutations and participated in the Natural History of Rett Syndrome Study.
resultsPresenting symptoms identified by record review included abdominal pain (94%), irritability (88%), weight loss (64%), and vomiting (52%). Biliary dyskinesia, cholecystitis, and cholelithiasis were identified in 90%, 77%, and 70%, respectively, by cholescintigraphy, surgical pathology, and abdominal ultrasound. The prevalence of biliary tract disease was 4.4% (n = 12) in the RTT cohort. Risk factors included older age (P < 0.001) and a positive family history (P < 0.01). Diagnoses included cholecystitis (n = 5), biliary dyskinesia (n = 6), and cholelithiasis (n = 7). Ten individuals underwent surgery; 7 had resolution of symptoms after surgical intervention.
conclusionsBiliary tract disease is not unique to RTT, but may be under-recognized because of the cognitive impairment of affected individuals. Early diagnostic evaluation and intervention may improve the health and quality of life of individuals affected with RTT and biliary tract disease.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.