Research

Several new reports on growth hormone (GH) therapy support the benefits of GH use in PWS, while continuing the trend of a reassuring safety profile.

Although it's rarely mentioned in clinical descriptions of PWS, anyone who hangs around families with PWS knows that seizures seem to occur much more frequently in those with PWS than typical individuals. Even in cases where a seizure disorder is never formally diagnosed, many parents have, at one time or another, had their child with PWS evaluated because they appear to be having seizures or unusual movements.

Growth hormone (GH) replacement therapy is one of the few effective treatments available today to help children with PWS overcome some of the problems associated with the disorder. Kids with PWS are generally troopers when it comes to receiving their daily GH shot, but, wouldn't it be nice if they could get the same result without the needle?

This project was funded by the Foundation for Prader Willi Research in 2006 and conducted by Drs. Gregory Olley and Anne Wheeler and their team at the University of North Carolina, Chapel Hill (UNC), Center for Development and Learning. Dr. Wheeler is currently finishing the analysis and preparing publications from the study. Following publication, a more detailed analysis will be available, but Dr. Wheeler is pleased to share the following general summary and preliminary results with the PWS community.

The incidence of scoliosis in Prader-Willi syndrome is quite high (~30% in children under the age 10; up to ~80% in kids over the age of 10, compared to <3% in the general population). Because moderate to severe scoliosis can be associated with significant complications, and may require surgical intervention, it’s important to understand and minimize contributing factors.

Several recent studies have begun to look more carefully at the causes of death in PWS, particularly in cases where death was sudden and/or unexpected. A review of 64 cases of death in children with PWS noted a high occurrence of respiratory infections in cases with fatal outcomes [Tauber 2008 , and references therein]. In addition, there have previously been suggestions in the medical literature that people with PWS may have unrecognized deficiencies in the adrenal system [Stevenson 2003 , and references therein]. Since a properly functioning adrenal system is critical during times of acute illness, some authors have speculated that deficiencies in the adrenal system may contribute to unexpected deaths in PWS. A new study begins to address the function of the adrenal system in individuals with PWS, and suggests that this is an area deserving of more attention.

[Contributed by Mayim Bialik, Ph.D.] The Sentence Completion and Three Wishes Tasks: One of the great challenges in studies of individuals with PWS and others with cognitive or linguis

Individuals with PWS are, in many ways, perfect subjects for studying the effectiveness of candidate obesity drugs.

A new article sheds a little bit of light on the latest player in obesity – the FTO gene (the fat-mass and obesity-associated gene).