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The loss of certain genetic material called non-coding RNA might lead to the disruption of genes important for brain development and function in Prader-Willi syndrome (PWS) , a study found. These alterations could underlie the cognitive and behavioral symptoms of the disease, according to researchers. The study, “…
A randomized withdrawal period in the ongoing open-label extension trial of DCCR (diazoxide choline extended-release tablets) for people with Prader-Willi syndrome (PWS) has been initiated to generate more data about the investigational treatment’s effectiveness. The study, called C602 (NCT03714373), is evaluating the safety and effectiveness of daily…
Reduced activity of the Magel2 gene, which is defective in Prader-Willi syndrome (PWS), specifically in nerve cells that supply the brain’s amygdala, lowered the susceptibility to diet-induced weight gain by increasing physical activity. The researchers noted that these unexpected findings from a mouse study may provide a novel therapeutic strategy…
Half of people with Prader-Willi syndrome (PWS) treated with the antipsychotic aripiprazole in a small German study experienced fewer temper outbursts, but daytime sleepiness was a common side effect. The medication did not cause an increase in weight, however, which is a plus considering that people with PWS typically…
An overview of patients with atypical deletions causing Prader-Willi syndrome (PWS) suggests deletions in the SNURF-SNPRN and SNORD-116 genes are crucial for developing major PWS symptoms, a new study reports. The study “Atypical 15q11.2-q13 Deletions and the Prader-Willi Phenotype,” was published in the Journal of Clinical Medicine. PWS…
Cells of adipose tissue, or body fat, may go awry long before weight gain takes off in children with Prader–Willi syndrome (PWS), according to a new study — and a missing cluster of genes called SNORD116 may be the reason why. The findings add information about what’s behind the…
The frequency of certain cognitive and behavioral symptoms in children with Prader-Willi syndrome (PWS) depends on their specific type of genetic defects, according to a study in China looking at more than 100 patients. Notably, a deletion of paternal genes on chromosome 15 — the most common cause of…
Aripiprazole, a treatment used for schizophrenia and other brain disorders, may potentially worsen behavioral problems in young people with Prader-Willi syndrome (PWS), according to a small study. Symptoms such as aggressiveness, irritability, and impulsiveness intensified in six people with PWS who received aripiprazole, but eased once they stopped taking…
There may be changes to how the “feel-good” hormone oxytocin works in patients with Prader-Willi syndrome (PWS) in general, and in those with psychosis, according to findings from a small study in Germany. Researchers found that OXTR, the gene that codes for the oxytocin receptor, is not as methylated in…
Sleep disturbances in people with Prader-Willi syndrome (PWS) are linked with psychosis-risk symptoms, a study reports. Psychosis refers to disturbed thoughts and perceptions that may make it difficult to understand what is real and what’s not. The findings also indicate neurobehavioral symptoms and cognition can be analyzed remotely in…
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