- PWS —
- Prader-Willi syndrome
Prader-Willi syndrome (PWS) is a common neurogenetic obesity syndrome that is complicated by hypotonia, poor feeding, and failure to thrive in early infancy, followed by hyperphagia, obesity, and profound social defects later in life.1 Autopsy studies have shown a significant reduction in the number and volume of oxytocin-producing neurons in the paraventricular nucleus of the hypothalamus in individuals with PWS.2 Given the importance of oxytocin in regulating social interactions and mother-infant bonding, it has been postulated that treatment of PWS with oxytocin may improve poor feeding and social behaviors in infants. This was tested in the study presented by Tauber et al3 in this issue of Pediatrics.
PWS results from lack of expression of paternally inherited genes on chromosome 15q11-q13, due to deletion of the paternally inherited region, to maternal uniparental disomy (ie, both copies inherited from the mother), or to an imprinting defect. Magel2 is one of the affected genes located on 15q11-q13, and Magel2 mutations have been found in individuals with autism spectrum disorder, intellectual disability, and some features of PWS.4 Magel2-deficient mice …
Address correspondence to Nancie J. MacIver, MD, PhD, Department of Pediatrics, Duke University School of Medicine, 3000 Erwin Rd, Ste 200, DUMC Box 102820, Durham, NC 27710. E-mail: