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PWS: Prader-Willi Syndrome
Pages 3 (753 words)
PWS is a complex neuro-developmental genetic disease. It is caused by uniparental disomy as a result of failure of expression of paternally inherited genes of chromosome 15. Physical signs and symptoms include distinctive facial features with narrow bifrontal diameter, up slanting eyes, narrow nasal bridge, thin upper lip and acromicria (Yearwood et al., 2011).
Neonatal and infants show lethargy, poor reflexes, feeding, sucking problems and poor weight gain. PWS has an incidence of 1 in 10,000-29,000 people worldwide (Yearwood et al., 2011) while in U.S. its occurrence is reported to be1 per 16,000-25,000 population (Butler, 1996). It is prevalent in all races and both genders. Cassidy and Driscoll (2009) have reported an estimated death rate of 3% per year in a population study. Research suggests frequent causes of death in PWS patients (approx 60%) are cardiovascular disorders and stroke along with complications related to obesity, respiratory disorders, shock pneumonia and hypoventilation (Yearwood et al., 2011). PWS is a consequence of abnormalities of imprinted region of proximal 15q. Research suggests an uncertain relationship between genetics and clinical signs of PWS. It can arise from either paternal or maternal factors however; around 70% of the cases are attributed to paternal inheritance involving a missing gene from chromosome 15 in areas of 15q11-q13. 20% of the cases occur due to maternal uniparental disomy i.e. ...
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