Prader-Willi Syndrome Case Study

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Introduction Prader-Willi syndrome (PWS) is a condition triggered by a deletion or disturbance of genes in the proximal arm of chromosome 15 or by maternal disomy in the proximal arm of chromosome 15. Generally related charactnnneristics of this syndrome include weakened fetal activity, obesity, hypotonia, mental obstruction, short build, hypogonadotropicl hypogonadism, strabismus, and slight hands and feet. In 1887, Langdon Down defined the first patient with Prader-Willi syndrome as a teenage girl with mental deficiency, short buikl.ld, hypogonadism, and obesity and ascribed these symptoms to polysarcia. In 1956, reported a chain of patients with similar phenotypes. In 1981, recognized deletions located between…show more content…
Effects of binge eating. Eating large quantities of food quickly, called binge eating, can cause the stomach to become unusually bloated. People with Prader-Willi syndrome may not report pain and they rarely vomit. Binge eating can also cause choking. Seldom, a person may eat so much that it causes stomach rupture. 2. Reduced quality of life. Behavioral problems can hinder with family functioning, prosperous education and social participation. They can also reduce the quality of life for children, teenagers and adults with Prader-Willi syndrome. Diagnosis Naturally, doctors suspect Prader-Willi syndrome based on signs and symptoms. A conclusive diagnosis can almost each time be made through a blood test. This genetic testing can identify abnormalities in child's chromosomes that point out Prader-Willi syndrome. Treatment Prader–Willi syndrome has no cure, though, several treatments are in place to reduce the conditions symptoms. Throughout infancy, subjects should undergo therapies to develop muscle strength. Speech and occupational therapy are also specified. During the school years, children profit from a highly organized learning environment as well as extra help. The biggest problem related with the syndrome is severe obesity. Access to food must be sternly supervised and limited, typically by installing locks on all food-storage places as well as

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