Author Archives: Margarida Maia PhD

People with Prader-Willi syndrome (PWS) who had COVID-19 experienced either no symptoms or only mild illness due to the infection, an international survey study found. These findings were unexpected, as researchers had put forward the hypothesis that the presence of other conditions typically coexisting with PWS would make symptoms…

Two boys with Prader-Willi syndrome (PWS) developed respiratory failure — a condition in which the oxygen level in the blood becomes too low — after surgery to correct scoliosis (a sideways curvature of the spine), a report says. “Even after scoliosis surgery, ‘periodic’ monitoring of respiratory failure with an…

Subtle heart changes in people with Prader–Willi syndrome (PWS) may begin relatively early in adulthood, and being overweight may be related to these cardiovascular abnormalities, a small study reported. “We need to manage obesity and obesity-related disorders in order to prevent heart failure and ischemic heart disease [reduced blood…

Prader–Willi syndrome (PWS) is associated with a specific molecular signature — a set of genes that can be used as markers for a certain trait — in the brain that is linked to episodes of psychosis, or a loss of contact with reality, a mouse study found. According to…

Specific epigenetic modifications — chemical marks added to DNA that affect the way genes work — are found in people with Prader–Willi syndrome (PWS), and may affect how the disease manifests, a small study reported. These findings may help in understanding how genes contribute to the disease and open…

Twice daily supplementation with a probiotic may help reduce body mass index (BMI), a measure of body fat, in patients with Prader-Willi syndrome (PWS), a clinical trial in China has found. The probiotic — Limosilactobacillus reuteri LR-99 — also improved social communication and interaction, fine motor skills, and overall development…

A protein that interacts with insulin growth factor 1 (IGF1) may be important in managing children with Prader–Willi syndrome (PWS) on growth hormone therapy, a study has found. The levels of that protein, called IGFBP7, were found to be higher than normal in PWS children who carry deletions in…

People with Prader-Willi syndrome (PWS) are aware of the disease, but not of its social consequences, a small single-site study has found. These findings may have important clinical implications for care as “patients believe they are capable of independent living when they are actually not,” the researchers wrote. The…