SynthesisPloS one2016
Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence.
Synthesis in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it, 116 citations in OpenAlex.
- Endocrine disorders in Rett syndrome: a systematic review of the literature.Frontiers in endocrinology · 2024Pooled it
- Increased Osteoclast Activity Contributes to Bone Resorption and Osteopenia in a Rett Syndrome Mouse Model.Cells · 2026Article
- MECP2 Insufficiency Attenuates RUNX2-Dependent Osteoblast Differentiation via miR-126-3p/DKK1-Mediated Canonical Wnt Signaling Inhibition in Rett Syndrome.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Article
- Reduction in Seizure Generalization Associated With Long-Term Low-Dose Immunomodulatory Therapy Using Prednisolone and Methotrexate in Rett Syndrome: A Case Report.Case reports in pediatrics · 2026Article
- Bone health and bisphosphonate treatment in females with Rett syndrome in a national center.Pediatric research · 2025Article
- The Management of Bone Defects in Rett Syndrome.Calcified tissue international · 2025Review
- Review of a specialist Rett syndrome clinic from 2003 to the COVID pandemic: clinic experience and carer perspectives.Orphanet journal of rare diseases · 2024Article
- Rett syndrome.Nature reviews. Disease primers · 2024Review
- Bone Fracture in Rett Syndrome: Mechanisms and Prevention Strategies.Children (Basel, Switzerland) · 2023Review
- A Severity Comparison between Italian and Israeli Rett Syndrome Cohorts.Diagnostics (Basel, Switzerland) · 2023Article
- Impact of Genetic and Genomic Testing on the Clinical Management of Patients with Autism Spectrum Disorder.Genes · 2022Review
- Improving clinical trial readiness to accelerate development of new therapeutics for Rett syndrome.Orphanet journal of rare diseases · 2022Review
- Phenotypes in adult patients with Rett syndrome: results of a 13-year experience and insights into healthcare transition.Journal of medical genetics · 2022Article
- International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder.Frontiers in neurology · 2022Article
- Altered Bone Status in Rett Syndrome.Life (Basel, Switzerland) · 2021Review
- Bone fragility in patients affected by congenital diseases non skeletal in origin.Orphanet journal of rare diseases · 2021Review
- Bone Health in Childhood Chronic Disease.Endocrinology and metabolism clinics of North America · 2020Review
- A small-molecule screen reveals novel modulators of MeCP2 and X-chromosome inactivation maintenance.Journal of neurodevelopmental disorders · 2020Article
- Drug Studies on Rett Syndrome: From Bench to Bedside.Journal of autism and developmental disorders · 2020Review
- Evidence-Based Physical Therapy for Individuals with Rett Syndrome: A Systematic Review.Brain sciences · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
30 authors at 20 institutions in 9 countries.
Funding
Abstract
objectivesWe developed clinical guidelines for the management of bone health in Rett syndrome through evidence review and the consensus of an expert panel of clinicians.
methodsAn initial guidelines draft was created which included statements based upon literature review and 11 open-ended questions where literature was lacking. The international expert panel reviewed the draft online using a 2-stage Delphi process to reach consensus agreement. Items describe the clinical assessment of bone health, bone mineral density assessment and technique, and pharmacological and non-pharmacological interventions.
resultsAgreement was reached on 39 statements which were formulated from 41 statements and 11 questions. When assessing bone health in Rett syndrome a comprehensive assessment of fracture history, mutation type, prescribed medication, pubertal development, mobility level, dietary intake and biochemical bone markers is recommended. A baseline densitometry assessment should be performed with accommodations made for size, with the frequency of surveillance determined according to individual risk. Lateral spine x-rays are also suggested. Increasing physical activity and initiating calcium and vitamin D supplementation when low are the first approaches to optimizing bone health in Rett syndrome. If individuals with Rett syndrome meet the ISCD criterion for osteoporosis in children, the use of bisphosphonates is recommended.
conclusionA clinically significant history of fracture in combination with low bone densitometry findings is necessary for a diagnosis of osteoporosis. These evidence and consensus-based guidelines have the potential to improve bone health in those with Rett syndrome, reduce the frequency of fractures, and stimulate further research that aims to ameliorate the impacts of this serious comorbidity.
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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.