ArticleBrain & development2018
The course of awake breathing disturbances across the lifespan in Rett syndrome.
Article in Brain & development, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers, 2 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.
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Who cites it
54 citing papers in PubMed, 2 syntheses or guidelines pooled it, 98 citations in OpenAlex.
- A meta-review of standard polysomnography parameters in Rett Syndrome.Frontiers in neurology · 2022Pooled it
- Autonomic dysfunction and sudden death in patients with Rett syndrome: a systematic reviewJournal of psychiatry & neuroscience : JPN · 2020Pooled it
- Carotid body dysfunction contributes to respiratory instability in Rett syndrome.Current biology : CB · 2026Article
- A global literature review of comorbidities and concomitant supportive medications among individuals with Rett syndrome.Journal of comparative effectiveness research · 2026Review
- Trajectory of skill acquisition, loss, and regain in females with classic Rett syndrome.Journal of neurodevelopmental disorders · 2026Article
- Sleep Problems and Clinical Severity in Rett Syndrome.Journal of child neurology · 2026Article
- Trajectory of skill acquisition, loss, and regain in females with classic Rett syndrome.Research square · 2025Article
- MeCP2 at the crossroads of hypoxia, oxidative stress, and gene regulation in Rett syndrome.Epigenomics · 2025Review
- Rett Syndrome Behaviour Questionnaire: Variability of Scores and Related Factors.Journal of child and adolescent psychopharmacology · 2025Article
- Communication Abilities, Assessment Procedures, and Intervention Approaches in Rett Syndrome: A Narrative Review.Brain sciences · 2025Review
- Potentiation of group III metabotropic glutamate receptors positively affects neurophysiological features in a mouse model of Rett syndrome.The Journal of pharmacology and experimental therapeutics · 2025Article
- Characterisation of sleep apneas and respiratory circuitry in mice lacking CDKL5.Journal of sleep research · 2025Article
- Middle-Aged Women With Rett Syndrome: Longitudinal Profile From the British Isles Rett Syndrome Survey and Suggestions for Care.Journal of applied research in intellectual disabilities : JARID · 2025Article
- Longitudinal trajectory of gross motor skills in school-aged children with Rett syndrome.Frontiers in neurology · 2025Article
- Predictors of aspiration, lower respiratory tract infection, and respiratory failure among individuals with Rett Syndrome: analysis of real-world claims data in the United States.Frontiers in pediatrics · 2025Article
- Rett Syndrome: Thinking Beyond Brain Borders.Advances in experimental medicine and biology · 2025Review
- Review
- Rett syndrome.Nature reviews. Disease primers · 2024Review
- Rett Syndrome: The Emerging Landscape of Treatment Strategies.CNS drugs · 2024Review
- Rett syndrome: The Natural History Study journey.Annals of the Child Neurology Society · 2024Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors at 6 institutions in 1 country.
Funding
Abstract
Rett syndrome (RTT), an X-linked dominant neurodevelopmental disorder caused by mutations in MECP2, is associated with a peculiar breathing disturbance exclusively during wakefulness that is distressing, and can even prompt emergency resuscitation. Through the RTT Natural History Study, we characterized cross sectional and longitudinal characteristics of awake breathing abnormalities in RTT and identified associated clinical features. Participants were recruited from 2006 to 2015, and cumulative lifetime prevalence of breathing dysfunction was determined using the Kaplan-Meier estimator. Risk factors were assessed using logistic regression. Of 1205 participants, 1185 had sufficient data for analysis, including 922 females with classic RTT, 778 of whom were followed longitudinally for up to 9.0 years, for a total of 3944 person-years. Participants with classic or atypical severe RTT were more likely to have breathing dysfunction (nearly 100% over the lifespan) compared to those with atypical mild RTT (60-70%). Remission was common, lasting 1 year on average, with 15% ending the study in terminal remission. Factors associated with higher odds of severe breathing dysfunction included poor gross and fine motor function, frequency of stereotypical hand movements, seizure frequency, prolonged corrected QT interval on EKG, and two quality of life metrics: caregiver concern about physical health and contracting illness. Factors associated with lower prevalence of severe breathing dysfunction included higher body mass index and head circumference Z-scores, advanced age, and severe scoliosis or contractures. Awake breathing dysfunction is common in RTT, more so than seizures, and is associated with function, quality of life and risk for cardiac dysrhythmia.
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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.