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June 20, 1986

Progress in research, therapy of Prader-Willi syndrome, but numerous challenges remain to be overcome

Author Affiliations

1985-1986 Morris Fishbein Fellow

JAMA. 1986;255(23):3211. doi:10.1001/jama.1986.03370230017004

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Infantile hypotonia and feeding difficulty, adolescent hyperphagia and hypogonadism, unremitting behavioral problems, and premature death from complications of obesity: such is the lot of the patient with Prader-Willi syndrome.

Infants with this condition eat poorly because of a weak suck reflex. However, by age 5 or 6 years, severe hyperphagia intervenes leading to obesity and such attendant problems as diabetes mellitus and respiratory insufficiency. The eating disorder is thought to be hypothalamic in origin. This is also true of associated endocrine abnormalities, which are discussed in a case report appearing in this issue of The Journal (pp 3280-3282).

The syndrome, first described by Swiss investigators 30 years ago (Schweiz Med Wochenschr 1956; 86:1260-1261), affects one in 10,000 to 25,000 children, with a large preponderance of boys. At least this figure is the best current estimate, according to Suzanne B. Cassidy, MD, assistant professor of pediatrics and director of the division