News

Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities aim to raise awareness about rare diseases and the millions of people — estimates run as high as 350 million — they are thought to impact. Across countries, patients, caregivers and advocates will paint faces, wear…

Involuntary reflexes such as being startled are abnormal in Prader-Willi Syndrome (PWS) patients, and lower startle response to food images may explain their eating habits, researchers from the University of Kansas Medical Center report. The study, “Startle Response Analysis of Food-image Processing in Prader-Willi Syndrome” was published in…

Disgusting food scenes failed to activate primitive limbic structures in the brains of people with Prader-Willi syndrome (PWS), but cortical responses ­­­­— where conscious sensations are processed ­­­­— were almost normal, a study reports. The study, “Lack of Response to Disgusting Food in the Hypothalamus and Related Structures in Prader…

Adults with Prader-Willi syndrome (PWS) show prematurely aged brains, being on average 8.74 years older than their chronological age, according to a neuroimaging study. This was not associated with body mass index (BMI), use of hormonal or psychotropic medications, severity of repetitive or disruptive behaviors, or intelligence quotient (IQ). The study,…

G71.01 is, literally, the code for Duchenne muscular dystrophy.  Q93.51 stands for Angelman syndrome, and G40.419 covers generalized and treatment-resistant epilepsies, which groups like Orphanet and the American Epilepsy Society define as including Dravet syndrome. All three designations are among some 70,000 diseases listed in the latest…

Feeding Tube Awareness Week (FTAW) — taking place Feb. 3-9 — is held worldwide to provide information about tube feeding and access to support groups and resources to patients and their families. In Australia, the national charity organization ausEE will be promoting the FTAW awareness campaign. “This week…

Wearable sensors to detect movement showed differences in motor abilities in children with Prader-Willi syndrome (PWS) and Down syndrome, compared with healthy children. Researchers say these sensors could be used to personalize patient therapy based on specific motor limitations. “Dynamic balance assessment during gait in children with Down and…

A six-week remote parent-training intervention for children with Prader-Willi syndrome (PWS) got good acceptability and satisfaction scores from parents, supporting the use of telehealth to manage the social and emotional impairments of children with this rare condition, a study reports. The study, “The PRETEND Program: Evaluating the Feasibility of…

Impairments in behavioral and working memory tasks are seen in people with Prader-Willi syndrome (PWS) compared with healthy controls, a new study shows. The study, “Investigation of the relationship between electrodermal and behavioural responses to executive tasks in Prader-Willi syndrome: An event-related experiment,” was published in the journal…

Liza Zickefoose has six children. As if that’s not challenging enough, one of them, Bridgette Nicole Johnston, has Prader-Willi syndrome (PWS). But from Zickefoose’s perspective, her daughter has a special purpose — to teach people of God’s love. That epiphany led to her writing a picture book titled “More…