SynthesisSystematic reviews2023
Global prevalence of Rett syndrome: systematic review and meta-analysis.
Synthesis in Systematic reviews, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 64 papers, 5 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
64 citing papers in PubMed, 5 syntheses or guidelines pooled it, 103 citations in OpenAlex.
- Mecasermin for the treatment of Rett Syndrome: a systematic review.Neurogenetics · 2025Pooled it
- Clinical differences in monozygotic twins with Rett syndrome: case report and systematic review.Orphanet journal of rare diseases · 2025Pooled it
- Is trofinetide a future treatment for Rett syndrome? A comprehensive systematic review and meta-analysis of randomized controlled trials.BMC medicine · 2024Pooled it
- Safety and efficacy of trofinetide in Rett syndrome: a systematic review and meta-analysis of randomized controlled trials.BMC pediatrics · 2024Pooled it
- Evidence Synthesis of Gene Therapy and Gene Editing from Different Disorders-Implications for Individuals with Rett Syndrome: A Systematic Review.International journal of molecular sciences · 2023Pooled it
- Managing Gastrointestinal Symptoms Resulting from Treatment with Trofinetide for Rett Syndrome: Caregiver and Nurse Perspectives.Advances in therapy · 2024Trial
- Beyond Rett syndrome: a case series expanding the neurological spectrum associated with pathogenic MECP2 variants.Journal of neurology · 2026Article
- Mapping Trofinetide Polypharmacology in Rett Syndrome: A Multi-Stage Computational Analysis.Journal of computational chemistry · 2026Article
- Utilization of Non-pharmacological Interventions in Rett Syndrome: A Systematic Review of the Literature on Supportive Care Management.Neurology and therapy · 2026Review
- Increased Osteoclast Activity Contributes to Bone Resorption and Osteopenia in a Rett Syndrome Mouse Model.Cells · 2026Article
- MECP2 mutations rewire human ESC fate and bias cortical lineage commitment.Stem cell reports · 2026Article
- Gait Analysis in Rett Syndrome: Integrating Linear and Nonlinear Techniques.Journal of child neurology · 2026Article
- Driver or passenger? A new assessment of genes in the schizophrenia-associated 3q29 deletion locus for contribution to neurodevelopmental disorders.Journal of neurodevelopmental disorders · 2026Review
- Pilot study: the impact of simulation-based pediatric basic life support training on the performance of caregivers of children with Rett syndrome.BMC medical education · 2026Article
- Modulating alternative splicing ofScience translational medicine · 2026Article
- Real-world benefits and tolerability of trofinetide for the treatment of Rett syndrome: The LOTUS study.Developmental medicine and child neurology · 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
- A novel heterozygous pathogenic variation in theTranslational pediatrics · 2026Article
- Trofinetide Use and Treatment Patterns Among Children Aged 2-4 Years with Rett Syndrome in the United States: A Retrospective Specialty Pharmacy Linked Claims Database Analysis.International journal of general medicine · 2026Article
- Real-World Treatment Landscape of Individuals with Rett Syndrome Treated and Untreated with Trofinetide in the United States.Journal of health economics and outcomes research · 2026Article
4 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundRett syndrome is a rare, severe neurodevelopmental disorder. Almost all cases occur in girls, in association with spontaneous (non-inherited) mutations involving the methyl-CpG-binding protein 2 gene located on the X chromosome. Diagnostic criteria for typical Rett syndrome require a period of regression, followed by recovery or stabilization, and fulfillment of all four main criteria (loss of purposeful hand skills, loss of spoken language, gait abnormalities, and stereotypic hand movements). Our objective was to estimate the prevalence of Rett syndrome in the general population, stratified by sex.
methodsWe conducted a search of PubMed, Embase, Web of Science, Cochrane Library, LILACS, and LIVIVO to retrieve studies published in English between Jan. 1, 2000, and June 30, 2021. Pooled prevalence with a 95% confidence interval (CI) was estimated using a random-effects meta-analysis based on a generalized linear mixed model with a logit link.
resultsTen eligible studies were identified (all in females), with a combined sample size of 9.57 million women and 673 Rett syndrome cases. The pooled prevalence estimate (random effects) was 7.1 per 100,000 females (95% CI: 4.8, 10.5, heterogeneity p < 0.001). Despite greatly variable precision of estimation, all estimates were compatible with a prevalence range of approximately 5 to 10 cases per 100,000 females based on their respective 95% CIs.
conclusionThese findings may facilitate planning of therapeutic trials in this indication in terms of target sample size and accrual times.
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What OpenQuestion holds
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.