Prader-Willi syndrome (PWS) is a complex genetic neurodevelopmental disorder with multisystem impact and a unique behavior profile that evolves over the life span. Beyond the primary care needs of all children and adults, the unique medical concerns and management needs of those with PWS are best served in a multidisciplinary academic center. Our PWS center has provided care for individuals with PWS and their families since 1981. Our growth hormone studies contributed to growth hormone supplementation becoming standard of care in this country. Here, in collaboration with the primary care provider, early childhood intervention programs, schools and local parent organizations, solid, patient-centered care for affected individuals and their families can be provided across the life-span. The purpose of this article is to provide a brief overview of PWS and the attendant medical and behavior management challenges attendant to the disorder.
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J Psychiatr Res
January 2025
Endocrinology and Nutrition Department, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Medicine Department, Universitat Autònoma de Barcelona, 08208, Sabadell, Spain.
Individuals with Prader Willi syndrome (PWS) often exhibit behavioral difficulties characterized by deficient impulse regulation and obsessive-compulsive features resembling those observed in obsessive-compulsive disorder. The genetic configuration of PWS aligns with molecular and neurophysiological findings suggesting dysfunction in the inhibitory gamma-aminobutyric acid (GABA) interneuron system may contribute to its clinical manifestation. In the cerebral cortex, this dysfunction is expressed as desynchronization of local neural activity.
View Article and Find Full Text PDFEndocrinology
January 2025
Department of Cancer Biology & Genetics, College of Medicine, The Ohio State University, Columbus, OH 43210, USA.
Prader-Willi syndrome (PWS) is a rare genetic disease that causes developmental delays, intellectual impairment, constant hunger, obesity, endocrine dysfunction, and various behavioral and neuropsychiatric abnormalities. Standard care of PWS is limited to strict supervision of food intake and growth hormone therapy, highlighting the unmet need for new therapeutic strategies. Environmental enrichment (EE), a housing environment providing physical, social, and cognitive stimulations, exerts broad benefits on mental and physical health.
View Article and Find Full Text PDFAm J Med Genet A
January 2025
Massachusetts General Hospital, Boston, Massachusetts, USA.
Prader-Willi syndrome (PWS) is a genetic disorder associated with baseline respiratory impairment caused by multiple contributing etiologies. While this may be expected to increase the risk of severe COVID-19 infections in PWS patients, survey studies have suggested paradoxically low disease severity. To better characterize the course of COVID-19 infection in patients with PWS, this study analyses the outcomes of hospitalizations for COVID-19 among patients with and without PWS.
View Article and Find Full Text PDFEvid Based Nurs
January 2025
Nursing, Athabasca University, Athabasca, Alberta, Canada.
Children (Basel)
December 2024
Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology, University Clinical Hospital No. 1, Pomeranian Medical University in Szczecin, 71-215 Szczecin, Poland.
Background/objectives: Obesity is a chronic disease characterized by pathological accumulation of adipose tissue. The exponentially increasing number of children with severe obesity draws attention to the tragic consequences of the lack of, or inadequate treatment of, obesity in this age group. This article aims to present ways of preventing obesity and ways of treating its complications in order to reduce the risk of the life-threatening problems caused by it.
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