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This information is from The Prader-Willi Syndrome Association. Prader-Willi syndrome is a deletion of the long arm of chromosome 15 that is received from your father which affects 1:12,000 - 15, 000 and knows no sexual, racial, ethnic, or social boundaries.. A deletion of this area from the chromosome you received from your mother results in Angelman's Syndrome. Some of the clinical findings of Prader-Willi Syndrome include: neonatal and infantile central "floppiness" which improves with age, infantile lethargy, feeding problems and poor weight gain in infancy, excessive or rapid weight gain between 1 and 6 years of age, distinctive facial features - narrow face, almond-shaped eyes, small-appearing mouth with thin upper lip and down-turned corners of mouth, delayed pubertal signs after age 16, short stature, small hands and feet, global developmental delay before age 6 with mild to moderate mental retardation or learning problems in older children, and obsession with food. Characteristic behavior problems of PWS include temper tantrums, violent outbursts, obsessive/compulsive behavior; tendency to be argumentative, oppositional, rigid, manipulative, possessive, and stubborn; perseverating, stealing, lying, and skin picking.

Prader-Willi Syndrome diagnosis can best be determined by a clinical geneticist and individuals who have a number of the clinical findings should be referred for genetic testing. DNA methylation analysis confirms diagnosis of PWS. FISH and DNA techniques can identify the specific genetic cause and associated recurrence risk. Patients who had negative or inconclusive tests with older techniques should be retested.

For more information, contact The Prader-Willi Syndrome Association. Organized in the United States in 1975 the Prader-Willi Syndrome Association serves as an international vehicle of communication about Prader-Willi syndrome (PWS), a genetically based developmental disability. Now operating as PWSA (USA), this national membership association dedicated to Prader-Willi syndrome has as its stated mission: "to provide to parents and professionals a national and international network of information, support services, and research endeavors to expressly meet the needs of affected children and adults and their families."

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