Marisa Wexler, MS, senior science writer —

People with Prader-Willi syndrome (PWS) caused by a genetic deletion are significantly more likely to have pale skin, seizures, and language development delays than PWS from other types of mutations. A PWS-causing genetic deletion was also associated with a higher frequency of excessive and…

The Prader-Willi Syndrome Association USA (PWSA) has again been named a winner of the Patients at the Heart awards, an effort by Harmony Biosciences to help fund nonprofits that work for people with sleep disorders and rare neurological diseases. The award will fund PWS Sleep Within Reach…

CSTI-500, an experimental oral therapy that ConSynance Therapeutics is developing to ease symptoms of Prader-Willi syndrome (PWS), showed a favorable safety and pharmacological profile in people with the disease, according to data from a Phase 1 clinical trial. “CSTI-500 has the potential to significantly improve the lives of…

The case of a young man with Prader-Willi syndrome who developed Hoffman’s syndrome, a condition marked by muscle weakness due to reduced thyroid gland function, was described in a recent report. The patient’s muscle weakness was effectively treated with thyroid hormone replacement. The study, “Hoffman’s syndrome as the…

Children with Prader-Willi syndrome (PWS) who start on treatment with growth hormone in the first year of life tend to have more normal growth parameters like height and weight, a new study reports. “This longitudinal study showed that younger children with PWS may benefit greatly from [growth hormone] treatment…

Early treatment with Jintropin, a form of human growth hormone, was associated with improvements in cognition and appeared to slow the decline in motor function among children with Prader-Willi syndrome (PWS), a new study reports. “The present findings of this study add to the growing evidence that [human growth…

The Foundation for Prader-Willi Research has awarded a two-year, $141,444 grant to help fund the development of a patient-reported questionnaire to assess the impact of hunger for people with Prader-Willi syndrome (PWS). The project is being led by Elisabeth Dykens, PhD, a professor of psychology…

Compared to their typically developing peers, children with Prader-Willi syndrome show marked differences in the shapes and sizes of many structures in the brain, including some important for regulating hunger, a new study reports. Changes seen in patients were not seen in obese children who didn’t have Prader-Willi, indicating…

Bone health problems such as osteoporosis and scoliosis are common among people with Prader-Willi syndrome, a new study indicates. Its researchers offered several recommendations for caring for bone health in people with Prader-Willi, such as optimizing calcium intake, getting enough physical exercise, and regular screenings for hormone imbalances. The…

Certain regions of the brain are unusually small in people with Prader-Willi syndrome (PWS), a study reveals. “The present study provides objective evidence of volumetric alterations in the subcortical, limbic, and brainstem structures in individuals with PWS,” its researchers wrote. The study, “Differential volume reductions in…