ArticleOrphanet journal of rare diseases2014
Twenty years of surveillance in Rett syndrome: what does this tell us?
Article in Orphanet journal of rare diseases, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 76 papers, 5 of them syntheses 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
76 citing papers in PubMed, 5 syntheses or guidelines pooled it, 141 citations in OpenAlex.
- A Systematic Review of Wearable Sensors in Rett Syndrome-What Physiological Markers Are Informative for Monitoring Disease States?Sensors (Basel, Switzerland) · 2025Pooled it
- Autonomic dysfunction and sudden death in patients with Rett syndrome: a systematic reviewJournal of psychiatry & neuroscience : JPN · 2020Pooled it
- Autonomic Characteristics of Sudden Unexpected Death in Epilepsy in Children-A Systematic Review of Studies and Their Relevance to the Management of Epilepsy in Rett Syndrome.Frontiers in neurology · 2020Pooled it
- Caregiver- and Clinician-Reported Adaptive Functioning in Rett Syndrome: a Systematic Review and Evaluation of Measurement Strategies.Neuropsychology review · 2019Pooled it
- Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence.PloS one · 2016Pooled it
- A global literature review of comorbidities and concomitant supportive medications among individuals with Rett syndrome.Journal of comparative effectiveness research · 2026Review
- Utilization of Non-pharmacological Interventions in Rett Syndrome: A Systematic Review of the Literature on Supportive Care Management.Neurology and therapy · 2026Review
- Optimising respiratory health in children with neurodevelopmental impairment.Breathe (Sheffield, England) · 2026Review
- Unraveling the layers of epigenetic control in respiratory antiviral defense.Journal of virology · 2026Review
- Mecp2 deficiency induces dysphagia in a preclinical model of Rett syndrome.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Article
- Longitudinal Rett syndrome behaviour questionnaire scores and their associations with genotype and trajectories of mobility, weight and seizure frequency status.Journal of neurodevelopmental disorders · 2026Article
- Toward an NGF-based therapy for Rett syndrome.Frontiers in neuroscience · 2026Review
- Post-marketing safety concerns with trofinetide: a disproportionality analysis of the first therapeutic agent for Rett syndrome based on the FDA adverse event reporting system (FAERS).Frontiers in pharmacology · 2026Article
- MeCP2 at the crossroads of hypoxia, oxidative stress, and gene regulation in Rett syndrome.Epigenomics · 2025Review
- Bone health and bisphosphonate treatment in females with Rett syndrome in a national center.Pediatric research · 2025Article
- Managing Complexity in Rett Syndrome with a Focus on Respiratory Involvement: A Tertiary Center Experience.Children (Basel, Switzerland) · 2025Article
- The Influence of CG sites on dynamic DNA sequence mutagenesis in the genomic evolution of mammalian lifespan.Nucleic acids research · 2025Article
- Orthopedic Conditions and Interplay with Functional Abilities and MECP2 Variant Subtype in Rett Syndrome Patients.Journal of autism and developmental disorders · 2025Observational
- Aspiration, respiratory complications, and associated healthcare resource utilization among individuals with Rett syndrome.Orphanet journal of rare diseases · 2025Article
16 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
5 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundThe clinical characteristics of children diagnosed with Rett syndrome are well described. Survival and how these characteristics persist or change in adulthood are less well documented. This study aimed to describe overall survival and adult health in those with Rett syndrome.
methodsUsing the Kaplan-Meier method, we estimated survival of individuals registered with the Australian Rett syndrome Database (ARSD) who had been followed for up to 20 years (n = 396). We then conducted logistic and linear regression analyses investigating epilepsy, musculoskeletal, gastrointestinal, autonomic dysfunction and behaviour of individuals aged 18 years and over using cross sectional cohorts from the ARSD (n = 150) and the international database InterRett (n = 273).
resultsThe likelihood of survival was 77.6% at 20 years, 71.5% at 25 years and 59.8% at 37 years. The median age of the combined cross-sectional cohort was 25 years (range 18 to 54 years), the majority (71%) were living in their parental home and the remainder being cared for in group homes or other institutions. Just over half walked either independently (18%) or with assistance (43%). The majority (86%) had scoliosis with 40% of those having undergone corrective surgery. Almost two-thirds (64%) of the women were taking anti-epileptic medications at the time of data collection. Constipation was highly prevalent (83%) and many experienced bloating (53%). Biliary dyskinesia, inflammation or infection of the gallbladder was reported for 20 women (5%) and of those 13 had undergone gallbladder surgery. Sleep disturbance was relatively common (63%), and adverse mood events and anxiety were slightly more prevalent in those aged 26-30 years in comparison to the younger and older age groups. Other frequently reported medical conditions included urinary tract infections, pneumonia and other respiratory conditions.
conclusionsSurvival in Rett syndrome has now been estimated with the most accurate follow up to date. During adulthood, continuation of multidisciplinary services and programs is necessary to optimise health and wellbeing.
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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.