Chemical modifications in the protein KCC2 that accelerate its activity during brain development may alleviate some of the cognitive and behavioral symptoms of several neurodevelopmental disorders, including Rett syndrome, a mouse study has found. The study, “Developmental Regulation of KCC2 Phosphorylation Has Long-Term Impacts on Cognitive Function,”…
News
Monkeys with Rett syndrome pay more attention to stronger social visual stimuli than healthy animals do, an eye-tracking study has found. The findings, “Social-Valence-Related Increased Attention in Rett Syndrome Cynomolgus Monkeys: An Eye-Tracking Study,” were published in Autism Research. Rett syndrome is a rare genetic…
Imagine living your whole life with a painful disease so rare that only 25 others worldwide have what you have. And that you’re one of just six such people who’ve made it to adulthood. Neena Nizar doesn’t have to imagine. The 41-year-old English professor at Metro Community College in Elkhorn,…
Implementation of meta-analysis — a statistical approach that combines information from different studies — using data from studies on the protein and genetic landscape of Rett syndrome is essential to discover new therapeutic targets for this disease, according to a recent review. The study, “Genome-wide transcriptomic and proteomic…
An algorithm that measures spontaneous variations in pupil dilation or heart rate could allow much earlier detection of Rett syndrome (RTT) and possibly other autism-related disorders, researchers have found. Scientists have developed a machine-learning program that spots changes in pupil dilation and heart rate linked with arousal that accurately…
The European Medicines Agency’s Committee for Orphan Medicinal Products (COMP) has endorsed Anavex 2-73 to receive orphan designation for the treatment of Rett syndrome, according to Anavex Life Sciences, the therapy’s developer. The proposal will now be evaluated by the European Commission, which will take into consideration…
Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, especially for rare disorders, has a ways to go in the United States. No state today tests for all 35 disorders recommended under a federal screening panel, and even in those that come close, rare…
Imbalance of thyroid hormones may contribute for the underlying biological mechanisms involved in Rett syndrome, results from a preclinical study suggest. The findings, “Altered Gene Expression of Thyroid Hormone Transporters and Deiodinases in iPS MeCP2-Knockout Cells-Derived Neurons,” were published in the journal Molecular Neurobiology. Rett syndrome…
Oklahoma suffers more tornadoes than any other state, has the highest per-capita rate of women in U.S. prisons, ranks second in the number of teen births per 100,000 teenage girls, and has the nation’s third-highest rate of uninsured residents — with 13.9% of all Oklahomans lacking health coverage. As if…
Microswitches can be used as assistive technology to help improve choice-making and activity engagement in children with Rett syndrome, according to a recent study. Led by researchers in Italy, the study “Experimental Examination and Social Validation of a Microswitch Intervention to…
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