ArticleJournal of medical genetics2020
Diurnal variation in autonomic regulation among patients with genotyped Rett syndrome.
Article in Journal of medical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it.
- A Systematic Review of Wearable Sensors in Rett Syndrome-What Physiological Markers Are Informative for Monitoring Disease States?Sensors (Basel, Switzerland) · 2025Pooled it
- Sleep Problems and Clinical Severity in Rett Syndrome.Journal of child neurology · 2026Article
- Assessing bedside measures of autonomic nervous system dysregulation in the PICU.Pediatric research · 2025Observational
- Wearable sensors in paediatric neurology.Developmental medicine and child neurology · 2025Review
- Epigenetic Regulation and Neurodevelopmental Disorders: From MeCP2 to the TCF20/PHF14 Complex.Genes · 2024Review
- Using Precision Medicine to Disentangle Genotype-Phenotype Relationships in Twins with Rett Syndrome: A Case Report.Current issues in molecular biology · 2024Article
- 24-h continuous non-invasive multiparameter home monitoring of vitals in patients with Rett syndrome by an innovative wearable technology: evidence of an overlooked chronic fatigue status.Frontiers in neurology · 2024Article
- MECP2-related disorders while gene-based therapies are on the horizon.Frontiers in genetics · 2024Review
- Rett syndrome: a review of clinical manifestations and therapeutic approaches.Frontiers in sleep · 2024Review
- The Heart of Rett Syndrome: A Quantitative Analysis of Cardiac Repolarization.Cardiology research · 2023Article
- A narrative review of the mechanisms and consequences of intermittent hypoxia and the role of advanced analytic techniques in pediatric autonomic disorders.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2023Review
- Inhibitory Synaptic Influences on Developmental Motor Disorders.International journal of molecular sciences · 2023Review
- Cardiac autonomic control in Rett syndrome: Insights from heart rate variability analysis.Frontiers in neuroscience · 2023Review
- Rett syndrome severity estimation with the BioStamp nPoint using interactions between heart rate variability and body movement.PloS one · 2023Article
- Sleep and Breathing Disturbances in Children With Leigh Syndrome: A Comparative Study.Pediatric neurology · 2022Article
- Improving clinical trial readiness to accelerate development of new therapeutics for Rett syndrome.Orphanet journal of rare diseases · 2022Review
- Breathing Abnormalities During Sleep and Wakefulness in Rett Syndrome: Clinical Relevance and Paradoxical Relationship With Circulating Pro-oxidant Markers.Frontiers in neurology · 2022Article
- Breathing disturbances in Rett syndrome.Handbook of clinical neurology · 2022Review
- The Pathophysiology of Rett Syndrome With a Focus on Breathing Dysfunctions.Physiology (Bethesda, Md.) · 2020Review
- Risk Factors for Patient-Ventilator Asynchrony and Its Impact on Clinical Outcomes: Analytics Based on Deep Learning Algorithm.Frontiers in medicine · 2020Article
Corrections and comments
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Authors and funding
3 authors.
Funding
Abstract
backgroundRett syndrome is a severe neurological disorder with a range of disabling autonomic and respiratory symptoms and resulting predominantly from variants in the methyl-CpG binding protein 2 gene on the long arm of the X-chromosome. As basic research begins to suggest potential treatments, sensitive measures of the dynamic phenotype are needed to evaluate the results of these research efforts. Here we test the hypothesis that the physiological fingerprint of Rett syndrome in a naturalistic environment differs from that of controls, and differs among genotypes within Rett syndrome.
methodsA comprehensive array of heart rate variability, cardiorespiratory coupling and cardiac repolarisation measures were evaluated from an existing database of overnight and daytime inhome ambulatory recordings in 47 cases and matched controls.
resultsDifferences between girls with Rett syndrome and matched controls were apparent in a range of autonomic measures, and suggest a shift towards sympathetic activation and/or parasympathetic inactivation. Daily temporal trends analysed in the context of circadian rhythms reveal alterations in amplitude and phase of diurnal patterns of autonomic balance. Further analysis by genotype class confirms a graded presentation of the Rett syndrome phenotype such that patients with early truncating mutations were most different from controls, while late truncating and missense mutations were least different from controls.
conclusionsComprehensive autonomic measures from extensive inhome physiological measurements can detect subtle variations in the phenotype of girls with Rett syndrome, suggesting these techniques are suitable for guiding novel therapies.
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