Case Study of Prader Willi Syndrome

By | September 1, 2023

(1) This case study has been provided by Jack Sherman and adapted from Greenswag & Alexander, 1995.


In 1957, just after the publication of the article by Prader, Labhart and Willi (1956) Miss M. was born. Due to lack of information and awareness it took a long time to be diagnosed. M. was evaluated by different endocrinologist, neurologist and psychiatrists, internists and all these reported a symptomatology, which is now acknowledged as emotional or physical manifestation of PWS.


M. was the fourth daughter of 38 years old father and 40 years old mother, who had three normal offspring? Her mother never noticed any differences of fetal activity comparing to the previous pregnancies. M. born vaginally with no complications and weighed at 3.3kgs and 19 inches in length. She was noticed with poor suck and hypotonia. By 6 months of her age she improved with her feedings, she started sitting by the 8 months of her age and speech began at 2. Nocturnal problems and daytime accidents continued till age 8.


M.’s parents were disturbed due to her weight gain they started to limit her food but they finally realized that she was stealing food. Her memory was not good to identify people to whom she met 2 or 3 years before. Schooling was more difficult for her parents because they were always complained regarding her behavior of stealing lunch boxes and eating leftover foods from garbage. However her IQ level was noticed to be high considerably other known PWS patients. After she entered in to high school she started stealing money. At the age of 17 she was recommended to a psychiatric hospital because her behavior deteriorated further. After four months she was transferred to a private school of this kind of student and interestingly, at the same school another student had been diagnosed as having PWS. Despite these she was still not confirmed as PWS because according to the doctors and psychologist she had a normal IQ and was a good student as well as she had no speech problems. 3-1/2 years later she returned home to live with her parents.


The insatiability became intolerable to her according to her age and her parents begged a psychiatric hospital to admit her. In March 1980 she required admission hospital due to her breathing difficulties. Two years later she was admitted to a home for emotionally disturbed, at this stage she was 94.4kgs and 52.5 inches in height. During this period a psychologist noticed her as PWS when he identified her skin picking behavior and recommended genetics evolution at a center experienced with PWS. After all confirmed basis of diagnosis and cytogenetic analysis, she was diagnosed as a PWS. It tool nearly 26 years of her age.


In 1986, at age of 29 she transferred to a group home established exclusively for PWS adults. Soon after her admission to PWS group home she gained her former freedom, but still had in appropriate cognitive function and ingenuity. M. started keeping a busy schedule by doing tasks of soldering and assembling electronic equipment. Gradually she got skilled with computer, mathematics and grammar. She was able to apply these skills as an editor of her day care center’s monthly newspaper and at the center’s office.