Prader-Willi Syndrome Assignment

DISABILITY ETHNOGRAPHY ASSIGNMENT Prader-Willi syndrome (PWS) is a distinct condition characterized by neurological impairments causing an altered pattern of growth and development with associated hyperphagia i.e. Over-eating. It is a genetic disorder in which seven genes on chromosome 15 are either deleted or unexpressed on the paternal chromosome. There are three known causes for Prader-Willi syndrome; a) Imprinting mutation b) UDP (Uniparental Disomy) c) Deletion. The main characteristics of this syndrome is low muscle tone, short stature, incomplete sexual development, cognitive disabilities, behavioral problems and excessive hunger that can lead to life threatening obesity. In-utero, PWS results in reduced fetal movement, frequent abnormal fetal position and occasional excessive amniotic fluid. At birth, PWS often results in lethargy, hypotonia, feeding difficulties, difficulty in establishing respiration and hypogonadism. Young children demonstrate late acquisition of major motor milestones for example, sitting at 12 months, walking at 24 months. Children aged 1-6 years present with symptoms of hyperphagia with progressive development of obesity. Short stature is generally present followed by lack of pubertal growth spurt and

Surgical intervention may be required on grounds of gastrointestinal issues. Family counseling as constant food restriction and behavioral issues can be stressful for family especially parents, pediatrician for developmental tracking, psychiatrist and psychologist for management of behavioral issues are often needed. Speech therapy to work and enhance vocalization and verbal skills. Occupational therapy to improve fine motor strength, endurance, balance and coordination, gross motor and fine motor skills, motor planning, self-care and sensory integration