ReviewFrontiers in sleep2024
Rett syndrome: a review of clinical manifestations and therapeutic approaches.
Review in Frontiers in sleep, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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.
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Who cites it
8 citing papers in PubMed.
- RNA-Based Therapeutics in Genetic Neurodevelopmental Disorders: Bridging Molecular Genetics and Precision Medicine.International journal of molecular sciences · 2026Review
- Inhibition of protein tyrosine phosphatase PTP1B function ameliorates pathophysiological deficits in Rett Syndrome.bioRxiv : the preprint server for biology · 2026Article
- Increased Osteoclast Activity Contributes to Bone Resorption and Osteopenia in a Rett Syndrome Mouse Model.Cells · 2026Article
- Review
- Optimized clonal isolation and immortalization of Rett syndrome patient fibroblasts for in vitro modeling of MECP2 mutations.Scientific reports · 2025Article
- Sleep Disorders in Children with Rett Syndrome.Children (Basel, Switzerland) · 2025Review
- Enhancing cognitive-motor recovery in Rett syndrome: effects of integrated intervention on neuropsychological and motor outcome.Frontiers in psychology · 2025Article
- Prevalence, severity, frequency and healthcare resource use of epilepsy among individuals with Rett Syndrome: analysis of data from a Rett Center of Excellence.Frontiers in neurology · 2025Article
Corrections and comments
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rett syndrome (RTT) is a severe X-linked dominant neurodevelopmental disorder predominantly affecting females and over 90% of these patients mutations linked to the methyl-CpG-binding protein 2 (MeCP2) gene. Although the syndrome is well noted for the classic repetitive hand motion with decline in speech, patients may have a wide range of cognitive and motor impairments. Typical comorbidities in RTT are characterized by poor growth, seizures, disrupted sleep, hyperventilation, breath holding spells, feeding difficulties, scoliosis, and behavioral issues. This paper aims to provide a brief overview of RTT, focusing on the clinical features of sleep and epilepsy, effects on childhood development, and available emerging treatment options. Sleep disturbances, epilepsy, and developmental regression can have profound effects on the quality of life in affected individuals. Current management strategies focus on a multidisciplinary approach to address symptoms and enhance overall wellbeing of individuals with RTT.
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Registered trials
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