Abstract
Prader-Willi syndrome (PWS) is a genetic disorder that occurs when there is a deletion in paternal chromosome 15. This rare disorder occurs in 1 in 15,000 births and affects all sex, races, or ethnicities. The clinical presentation includes hypotonia in infant with poor suck which can lead to failure to thrive, feeding difficulties, weak cry, hypogonadism with resulting hormonal imbalance, short stature, childhood obesity, hyperphagia, behavioral problems, and skin picking. Research shows that the chromosomal abnormality in PWS leads to dysfunction of the hypothalamic system. The hypothalamus modulates our endocrine and hormonal system via its connection with the pituitary gland. This dysfunction leads to inability to modulate one's hormones, appetite, weight, and emotions. The team responsible for the care of infants with PWS help guide families from the very beginning of establishing a diagnosis and the implications of the long-term complications from PWS.
Published Version
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