Results 21 to 30 of about 2,462,658 (261)
Multisite Study of Evoked Potentials in Rett Syndrome
Annals of Neurology, 2021 The aim of the current study was to evaluate the utility of evoked potentials as a biomarker of cortical function in Rett syndrome (RTT). As a number of disease‐modifying therapeutics are currently under development, there is a pressing need for ...
Joni N. Saby +13 more
semanticscholar +1 more source
Evaluation Tools Developed for Rett Syndrome
Diagnostics, 2023 Rett syndrome (RTT) is a complex neurodevelopmental X-linked disorder associated with severe functional impairments and multiple comorbidities. There is wide variation in the clinical presentation, and because of its unique characteristics, several ...
Meir Lotan +3 more
doaj +1 more source
Genes, 2021 Introduction: Progress in the clinical application of next-generation-sequencing-based techniques has resulted in a dramatic increase in the recognized genetic heterogeneity of the Rett syndrome spectrum (RSS).
C. Spagnoli, C. Fusco, F. Pisani
semanticscholar +1 more source
Trofinetide—a new chapter in rett syndrome’s treatment
Frontiers in Pharmacology, 2023 Trofinetide is the first drug approved by the FDA to treat Rett Syndrome in children aged 2 years or above. The drug significantly improved Rett syndrome behavioral scores Rett syndrome behavioral questionnaire in clinical studies.
Muhammad Furqan
doaj +1 more source
The Molecular Functions of MeCP2 in Rett Syndrome Pathology
Frontiers in Genetics, 2021 MeCP2 protein, encoded by the MECP2 gene, binds to DNA and affects transcription. Outside of this activity the true range of MeCP2 function is still not entirely clear.
O. Sharifi, D. Yasui
semanticscholar +1 more source
Oral Manifestations of Rett Syndrome—A Systematic Review
International Journal of Environmental Research and Public Health, 2021 Rett Syndrome is an x linked developmental disorder which becomes apparent in females after 6 to 18 months of age. It leads to severe impairments including loss of speech, loss of hand movements/manual dexterity, characteristic hand movements such as ...
S. Mahdi +5 more
semanticscholar +1 more source
PLoS ONE, 2023 Rett syndrome, a rare genetic neurodevelopmental disorder in humans, does not have an effective cure. However, multiple therapies and medications exist to treat symptoms and improve patients’ quality of life.
Pradyumna Byappanahalli Suresha +4 more
doaj +2 more sources
Challenges in the Dental Management of Rett Syndrome under General Anesthesia: A Rare Disease
Case Reports in Dentistry, 2022 Rett syndrome is a neurodevelopmental genetic X-linked disorder. It is predominantly found in females with a prevalence rate of 1 : 9000. Rett syndrome patients are usually healthy the first months of their lives.
Wisam Al-Hathlol +3 more
doaj +1 more source
Real-world benefits and tolerability of trofinetide for the treatment of Rett syndrome: The LOTUS study. [PDF]
Dev Med Child NeurolThis 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.
Cosand L, Mayman H, Downs J, Abler V.
europepmc +2 more sources
Comparison of evoked potentials across four related developmental encephalopathies
Journal of Neurodevelopmental Disorders, 2023 Background Developing biomarkers is a priority for drug development for all conditions, but vital in the rare neurodevelopmental disorders where sensitive outcome measures are lacking.
Joni N. Saby +12 more
doaj +1 more source