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Sleep Disorders in Rett Syndrome and Rett-Related Disorders: A Narrative Review
Frontiers in Neurology, 2022 Rett Syndrome (RTT) is a rare and severe X-linked developmental brain disorder that occurs primarily in females, with a ratio of 1:10.000. De novo mutations in the Methyl-CpG Binding protein 2 (MECP2) gene on the long arm of X chromosome are responsible ...
Giorgia Tascini +6 more
doaj +2 more sources
Nature Reviews Disease PrimersRett syndrome (RTT) is a severe, progressive, neurodevelopmental disorder, which affects predominantly females. In most cases, RTT is associated with pathogenic variants in MECP2. MeCP2, the protein product of MECP2, is known to regulate gene expression and is highly expressed in the brain.
Wendy A. Gold +8 more
europepmc +7 more sources
Unexpectedly competent immune response to SARS-CoV-2 vaccination in Rett syndrome [PDF]
Human Vaccines & ImmunotherapeuticsRett syndrome (RTT) is a rare neurodevelopmental disorder of genetic origin characterized by chronic low-grade inflammation, immune imbalance, and frequently associated with compromised respiratory function. During the COVID-19 pandemic, individuals with
Ludovica Soldateschi +14 more
doaj +2 more sources
Frontiers in Integrative Neuroscience, 2020 Rett syndrome is a debilitating neurodevelopmental disorder for which no disease-modifying treatment is available. Fortunately, advances in our understanding of the genetics and pathophysiology of Rett syndrome has led to the development of promising new
Joni N. Saby +6 more
doaj +2 more sources
Longitudinal trajectory of gross motor skills in school-aged children with Rett syndrome [PDF]
Frontiers in NeurologyBackgroundIn children with Rett syndrome, this study aimed to (1) describe gross motor skill trajectories; and (2) analyse the influences of genetic variant and comorbidities.MethodsThis was a prospective longitudinal study conducted at the Danish ...
Anne-Marie Bisgaard +6 more
doaj +2 more sources
Journal of Neurodevelopmental Disorders, 2019 Background Rett syndrome is a neurodevelopmental disorder caused by a mutation in the X-linked MECP2 gene. Individuals with Rett syndrome typically develop normally until around 18 months of age before undergoing a developmental regression, and the ...
Katherine J. Roche +5 more
doaj +2 more sources
Real‐world benefits and tolerability of trofinetide for the treatment of Rett syndrome: The LOTUS study [PDF]
Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 407-417, March 2026.This original article is commented on by Kaufmann on pages 308–309 of this issue. Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70051 Abstract Aim To describe the real‐world effects of trofinetide in individuals with Rett syndrome (RTT) using the 18‐month follow‐up analysis of the LOTUS study.
Louise Cosand +3 more
wiley +2 more sources
Romanian Journal of Pediatrics, 2009 Rett syndrome is a thief! It robs little girls of their projected life. It lulls their families into a false sense of security while their little girls develop normally for 6 to 18 months.
Cox, Deborah Ann
core +4 more sources
Rehabilitation interventions in Rett syndrome: a scoping review [PDF]
Developmental Medicine & Child Neurology, 2020 To summarize existing interventions and their outcomes in Rett syndrome (RTT) rehabilitation and identify gaps in the literature.
Jan Lim +3 more
openalex +2 more sources
Sphingolipid Metabolism Perturbations in Rett Syndrome
Metabolites, 2019 Rett syndrome is a severe neurodevelopmental disorder affecting mostly females and is caused by loss-of-function mutations in the MECP2 gene that encoded the methyl-CpG-binding protein 2.
Gerarda Cappuccio +6 more
doaj +2 more sources