Research Blog
A new drug to build muscle?
Individuals with PWS have motor difficulties throughout life, with low muscle tone and decreased muscle mass. Growth hormone therapy is helpful in increasing muscle mass, but it does not completely normalize body composition. It would be helpful to achieve normal muscle mass in those PWS since muscle is important not only for maintaining strength and endurance, but also because it is a metabolically active tissue. Appropriate muscle mass is important to properly regulate glucose and lipid levels in the body. Thus, efforts to develop pharmacological interventions that help build muscle mass may have relevance to PWS. Most of these interventions are currently being developed for serious disorders that affect muscle structure (the muscular dystrophies, for example) or for muscle wasting diseases. However, if proven safe and effective, it might be reasonable to evaluate whether these drugs have clinical application in PWS...
New Resource for Understanding Autism
Individuals with PWS struggle with a variety of behavioral issues and have an increased incidence of autism compared to the general population and to most other developmental disabilities. Even in those with PWS who don't have a diagnosis of autism, many behavioral similarities can be found...
Times article on Fragile X clinical trial
There’s a very nice article in the New York Times today [Promise Seen in Drug for Retardation Syndrome] about a human clinical trial testing a drug to improve behavior in those with Fragile X syndrome (FXS), a genetic disorder associated with intellectual disability and behavior problems, among other issues. The article traces the long path that led to the development of drugs for FXS. The results of the clinical trial are not yet published and larger studies will surely be needed, but there is new hope that pharmaceutical interventions may be able to correct some of the alterations that occur in the brain of those with FRAX. The article also mentions the FRAXA Research Foundation, which has been key in advancing research for Fragile X. Founded in the ‘90s by thre...
A Preliminary Analysis of the Phenomenology of Skin-Picking in Youth with PWS
Below is a special guest blog from Jessica Morgan, a graduate student working with Dr. Eric Storch at the University of South Florida. Their group has an interest in understanding skin picking (and other obsessive/compulsive behaviors) in PWS so that they can help develop more effective ways to decrease the behavior. Many thanks to Jessica for summarizing their study:
Many research studies in the past have shown that skin-picking can be a common habit in youth with PWS, but few studies have looked at the nature of this habit and the impact it can have, as well as the other problems that correlate with severity of skin-picking. A survey of skin-picking and associated factors in youth with PWS was conducted by a research team at the University of South Florida, headed up by Jessica Morgan and Dr...
What's for dinner? Mandometer anyone?
So, here's a different approach. A new study looks at the use of a computerized device in helping to modify eating behavior in typically developing obese adolescents. Treatment of childhood obesity by retraining eating behaviour: randomized controlled trial examines the use of a Mandometer, which provides real time feedback during meals. Originally developed for people eating disorders such as anorexia, this is the first report of the device being used to assist in weight loss. The mandometer is a portable weighing scale connected to a small computer, which continually measures the food removed from the plate...
Long term safety and benefits of growth hormone therapy
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.
A study from Carrel et al [Long-Term Growth Hormone Therapy changes the Natural History of Body Composition and Motor Function in Children with PWS] is a follow up to a study of GH in young children [Carrel et al, 2004], which first reported improved mobility and body composition in young children who had started GH as infants or toddlers. Now these kids are ~ 6 years old, and the investigators have compared them to another group of children, matched for age, who had not received GH. Out of necessity, the data for the non-...
Seizure Disorder in Prader-Willi Syndrome
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.
There have been a smattering of papers in the medical literature about seizures in PWS, and a new one [Characteristics and Frequency of Seizures Disorder in 56 Patients with Prader-Willi Syndrome] adds to the growing evidence that seizures are common in this population. Dr...
Inhaled Growth Hormone -- Don't hold your breath...
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? To try to address this issue, drug companies have been exploring the possibility of delivering GH via inhalation - similar to the way asthma drugs can be delivered. Prior to the study described below, the Eli Lilly pharmaceutical company had begun testing an inhaled formulation of growth hormone (termed somatropin inhalation powder, SIP). They had previously shown that the SIP method safely and effectively delivered GH in a 6-month study of healthy adults, and also was safe in a one-month study of adults with mild to moderate asthma...
Linking Learning with Neurodevelopmental Functioning - Final Report
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 first goal of this study was to design teacher and parent rating forms specific to children with PWS, based on the links between academic skills and the eight neurodevelopmental constructs outlined by Dr. Mel Levine (author of All Kinds of Minds). Questionnaires were developed and given to parents and teachers for completion. Dr...
Growth Hormone Therapy Does Not Worsen Scoliosis
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.When growth hormone (GH) replacement therapy in PWS was first introduced, one concern was the possibility of increasing the incidence and/or severity of scoliosis, since scoliosis progression is most evident during periods of rapid growth. In fact, scoliosis is the most frequently reported adverse event in Pfizer's large database analysis of kids with PWS receiving GH (Craig, 2006)...