Prader-Willi Syndrome

Excerpt

Prader-Willi syndrome (PWS) is a rare, complex genetic condition that affects the metabolic, endocrine, and neurological systems; this disorder stands out as the predominant syndromic manifestation of obesity. Affected individuals exhibit behavioral, developmental, and intellectual difficulties characterized by severe hypotonia and feeding difficulties in the first years of life. Global developmental delay, hyperphagia, and the onset of obesity manifest around the age of 3. Children with PWS display distinctive facial features, strabismus, and musculoskeletal abnormalities. Hypothalamic dysfunction in PWS contributes to multiple endocrinopathies, including hypogonadism, hypothyroidism, central adrenal insufficiency, and growth hormone deficiency with resulting short stature and reduced bone mineral density.

PWS results from the loss of expression of paternally inherited genes on chromosome 15q11.2–q13, most commonly due to paternal deletion, maternal uniparental disomy, or imprinting defects. In infancy, typical features include severe hypotonia and feeding difficulties. Older children exhibit hyperphagia, developmental delay, and excessive weight gain and benefit from multidisciplinary management to prevent severe obesity and related complications. This activity reviews the etiology, epidemiology, clinical manifestations, and current treatment recommendations, highlighting the role of the interprofessional team in improving long-term outcomes for individuals with PWS.