Author Archives: Marta Figueiredo PhD

Advocacy Groups Oppose Additional Trial for DCCR

The Foundation for Prader-Willi Research (FPWR) and the Prader-Willi Syndrome Association (PWSA) in the U.S. have asked the U.S. Food and Drug Administration (FDA) to reconsider its request for an additional clinical trial of diazoxide choline controlled release (DCCR) tablets in patients with Prader-Willi syndrome (PWS). Last month, the…

Mental Rigidity in PWS Goes Beyond Intellectual Disability

Adults with Prader-Willi syndrome (PWS) have greater mental rigidity than those with matching intellectual disability, but without the disease, and those with normal intellectual level, according to a study from France. These findings support the presence of PWS-specific mental flexibility deficits, over and above intellectual problems, the researchers said.

Remote Play Program May Improve Cognition, Behavior in PWS Children

A remote play-based intervention program improved pretend play skills, cognition, and behavior in children with Prader-Willi syndrome (PWS), a small study shows. The preliminary findings support the validation of this remote approach in larger studies of a patient population with a high unmet need for effective behavioral interventions, researchers said. The…

Gene Silencing Mechanism Linked to PWS Focus of Early Study

The maternal SMCHD1 protein ensures genomic imprinting and the effective silencing of particular genes by protecting them from “gene-activating” proteins in the fertilized egg cell (or oocyte), according to a study in mice. Since SMCHD1’s gene silencing effects are known to contribute to Prader-Willi syndrome (PWS), these findings may help…