History

Prader-Willi Syndrome first appeared in the medical literature when endocrinologists Prader, Labhart, and Willi published a report describing an unusual pattern of abnormalities. These abnormalities included diminished fetal activity, profound poor muscle tone, feeding problems in infancy, underdeveloped sex organs, short stature and retarded bone age, small hands and feet, delayed developmental milestones, characteristic faces, cognitive impairment, onset of gross obesity in early childhood due to insatiable hunger, and a tendency to develop diabetes in adolescence and adulthood when weight was not controlled. Further studies in the late 1960’s followed up on these cases, and added more. Orthopedic, dental and developmental characteristics that could assist in differential diagnosis of PWS were identified, and two clearly identifiable phases of the disorder were described (Phase I, the prenatal, neonatal, and early infancy period, in which the child shows diminished fetal activity, poor muscle tone, and failure to thrive after birth, and Phase II, in which the uncontrollable hunger drive emerges between ages 2 and 3).. Behavioral, personality and medical problems associated with PWS were described in literature in the 1970’s and 80’s. A study published by Greenswag in 1987of 232 individuals with PWS, age 16 and over, indicated that with appropriate nutritional control, the life expectancy of this population could be extended. The study also showed that emotional lability increases with age and is independent of the presence of adult obesity, that psychosocial adaptation to adulthood requires special management, and that the presence of PWS has a profound impact on family life.

For more information like this, order the Management of Prader-Willi Syndrome

Last edited 02/09/2012