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A rare case of premature puberty was reported in an 8-year-old girl diagnosed with Rett syndrome years earlier. “A case report of precocious puberty related to Rett syndrome and a literature review” was published in the International Journal of Pharmaceutical Sciences. Reports of precocious puberty —…
The Rett Syndrome Clinic at Children’s Hospital Los Angeles has been relaunched in an expanded space and expects to enhance individualized care for children with the disorder. The new Neurological Institute Outpatient Center opened this year at the hospital’s Sunset Boulevard campus. It aims to provide comprehensive care for children…
A mosaic mutation — one that is present in only some body cells — causing Rett syndrome was found in a 2-year-old boy in India, a report says. According to researchers, this is the first time this specific mutation has been reported in a male patient. The report, “…
Alterations in brain waves, measured using an electroencephalogram (EEG), revealed benefits of cognitive stimulation in Rett syndrome patients, a small study found. The benefits of cognitive stimulation were greater in younger girls, “highlighting that the younger the therapy is started, the better is the outcome,” the scientists wrote. The…
Trofinetide, Acadia Pharmaceuticals’ experimental therapy, significantly reduced neurobehavioral symptoms and improved communication in girls and young women with Rett syndrome, according to top-line data from the Phase 3 LAVENDER clinical trial. These results — meeting the trial’s main and key secondary goals — were consistent across age ranges…
Insulin-like growth factor-1 (IGF-1) and oxytocin may normalize the levels of the KCC2 protein — which is abnormal in the brain of Rett syndrome patients — in a region-specific and complementary manner, a study in mice suggests. This finding supports their potential use as a combo therapy for Rett,…
A specific mutation of MECP2 — the main disease-causing gene of Rett syndrome — prevents a type of chemical modification on the resulting MeCP2 protein that is key for nerve cell growth, maturation, and function, a study in lab-grown cells and mice shows. In addition, these defects were associated with…
A newly found mutation in the MECP2 gene that causes Rett syndrome was described in a recent report. The report highlights some of the considerations that need to be taken into account when testing for an unknown Rett-causing mutation. Here, a testing glitch showed an artificial result from…
Neurons activated at the same time — a state called neuronal synchrony — and with lesser complexity in the relationships between nerve cells of the brain and the body may contribute to the aimless and repetitive movements of Rett syndrome, a recent animal study suggests. The study, “Collapse of…
The Rett Syndrome Research Trust (RSRT) has received a $1 million donation to help develop a cure for Rett syndrome. The gift, provided by Alba Tull, philanthropist and co-founder of Tull Family Foundation (TFF), will support the RSRT’s CURE 360 initiative, a project that aims to be…
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