A comprehensive review of Rett syndrome, a recently identified developmental disability found only in females, was presented. The syndrome involves severe physical and mental handicaps. The rapidly accumulating research on Rett syndrome was reviewed for readers without a medical background. A brief history of Rett syndrome, the diagnostic criteria for this disorder, and the clinical stages that have been noted were presented. Information on the incidence of Rett syndrome and a discussion of issues in differential diagnosis (particularly with autism) was also included. The etiological data and genetic theories were then discussed as were treatment approaches and prognosis.
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J Clin Med
December 2024
Department and Clinic of Rheumatology, Rehabilitation and Internal Diseases, Poznan University of Medical Sciences, 28 Czerwca 1956 r. 135/147, 61-545 Poznań, Poland.
DDX3X syndrome is often misdiagnosed as autism spectrum disorder (ASD, Rett Syndrome, and Dandy-Walker Syndrome). Precise phenotyping is needed with reference to neurodevelopmental diagnosis. Observation of behavior and communication in parents with DDX3X syndrome in the USA, France, and Poland; conversations with the parents of patients; and rudimentary information in evidence-based medical articles prompted us to identify differences in communication, play, and social interaction between children with ASD only, those with both ASD and , and those with only.
View Article and Find Full Text PDFCells
December 2024
Department of Neurobiology, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Rett syndrome (RTT), which predominantly affects females, arises in most cases from mutations in the () gene. When MeCP2 is impaired, it disrupts the regulation of numerous genes, causing the production of dysfunctional proteins associated with various multi-systemic issues in RTT. In this review, we explore the current insights into molecular signaling related to monoamines, immune response, and mitochondrial function, and their implications for the pathophysiology of RTT.
View Article and Find Full Text PDFGenes (Basel)
December 2024
Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.
Background: Neurodevelopmental disorders (NDDs) affect approximately 15% of children and adolescents worldwide. This group of disorders is often polygenic with varying risk factors, with many associated genes converging on shared molecular pathways, including chromatin regulation and transcriptional control. Understanding how NDD-associated chromatin regulators and protein complexes orchestrate these regulatory pathways is crucial for elucidating NDD pathogenesis and developing targeted therapeutic strategies.
View Article and Find Full Text PDFGenes (Basel)
December 2024
Department of Child and Adolescent Psychiatry, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London SE5 8AF, UK.
Genomic sequencing has the potential to revolutionise newborn screening (NBS) programmes. In 2024, Genomics England began to recruit for the Generation Study (GS), which uses whole genome sequencing (WGS) to detect genetic changes in 500 genes in more than 200 rare conditions. Ultimately, its purpose is to facilitate the earlier identification of rare conditions and thereby improve health-related outcomes for individuals.
View Article and Find Full Text PDFBiochem Cell Biol
January 2025
University of Victoria Faculty of Science, Biochemsitry and Microbiology, Victoria, British Columbia, Canada;
Methyl CpG binding protein 2 (MeCP2) is a chromatin-associated protein that remains enigmatic despite more than 30 years of research, primarily due to the ever-growing list of its molecular functions, and, consequently, its related pathologies. Loss of function MECP2 mutations cause the neurodevelopmental disorder Rett syndrome (RTT); in addition, dysregulation of MeCP2 expression and/or function are involved in numerous other pathologies, but the mechanisms of MeCP2 regulation are unclear. Advancing technologies and burgeoning mechanistic theories assist our understanding of the complexity of MeCP2 but may inadvertently cloud it if not rigorously tested.
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