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A number of events are in the works to mark Rett Syndrome Awareness Month, observed each October to heighten awareness about the rare neurodevelopmental disorder. Patients, caregivers, and advocates may, among other activities, share stories on social media, attend virtual events, hold Facebook fundraisers, and sport temporary tattoos —…
Walking overground or on a treadmill is suitable as a tool to observe and detect gait changes in people with Rett syndrome, a small study has found. The study, “Characteristic behaviors associated with gait of individuals with Rett syndrome,” was published in the journal Disability…
It took one year for Dona Krystosek to get a diagnosis for her son, Levi, after he was born. The family received three misdiagnoses of fatal diseases until they found out Levi has Jansen’s metaphyseal chondrodysplasia — an extremely rare form of dwarfism. “The hardest…
Addressing changes in the adenosine system, essential for nerve cell function in the brain, may be a therapeutic strategy in Rett syndrome, a study in mice reported. The study, “Impairment of adenosinergic system in Rett…
Patients with Rett syndrome have similar spinal surgery outcomes to those of people with cerebral palsy (CP), according to new research. The findings also revealed comparable degrees of spine abnormalities before surgery, as well as similar duration of hospital stays. The study, “Surgical outcomes…
Rettsyndrome.org has launched the International Rett Syndrome Foundation Medical Advisory Board, aiming to enhance care and research to help people with the neurodevelopmental disorder, according to the non-profit. The Advisory Board, composed of 11 Rett syndrome experts across leading hospitals and academic centers in the U.S., is chaired…
Girls and women with Rett syndrome caused by a mutation usually associated with milder disease have the poorest quality of life, according to a large study. Data from this and previous studies suggest that such patients experience behavioral problems, including sleep disturbances, that profoundly affect quality of life. The…
A Phase 2 clinical trial evaluating the safety and efficacy of Anavex Life Sciences‘ investigational therapy Anavex 2-73 (blarcamesine) in Rett syndrome has been completed, according to the company. Top-line results from the trial are expected before the end of the year. “We would like to…
Stimulation of the vagus nerve, when paired with sound, could help people with Rett syndrome better process what they hear, a study in rats suggests. The study, “Vagus nerve stimulation paired with tones restores auditory processing in a rat model of Rett syndrome,” was…
Same But Different, a U.K. nonprofit that uses the arts to bring communities together, is holding a calendar photography competition to raise awareness for rare diseases. Under the theme “A Glimmer of Hope,” the competition is a means to “visually express the hope that exists for people affected by…
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