Research Blog
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-GH PW...
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)...
Adrenal Insufficiency and PWS
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]...
If I had three wishes......
[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 linguistic delays is how to accurately depict self-perceptions, hopes, thoughts, and dreams. Tests used for the general population are often not appropriate for those with intellectual disabilities (ID), as labeling, expressing, and rating complex feelings and thoughts can be challenging for those with ID, and projective tasks such as the Rorschach Inkblot test are often too abstract. Objective tests and the use of parents, teachers, and caregivers to provide responses can be informative, but self-perceptions, by definition, must come from the person experiencing them...
What's new with ghrelin??
Since its first description in 1999 by Kojima and co-workers , ghrelin has been the subject of intense interest in the scientific community, as evidenced by the more than 2,500 published papers to date. This is good news for those with PWS, who have abnormally high levels of circulating ghrelin (in contrast, normal obese individuals have lower ghrelin levels than their lean counterparts). The more we know about ghrelin, the closer we are to understanding how elevated levels influence the PWS phenotype, and the closer we are to interrupting its appetite promoting properties. Given the rapid pace of the field, it’s hard to keep up, but here is a smattering of recent ghrelin studies that may be important for PWS. Evidence is mounting that ghrelin plays an important role in reproduction and fertility...
Sibutramine evaluated in PWS
Individuals with PWS are, in many ways, perfect subjects for studying the effectiveness of candidate obesity drugs. Excessive weight gain is a common and critical issue, frequently leading to a multitude of medical complications. Even in the best of environments and with the best efforts of those with the disorder, maintaining good weight control is a constant struggle. Behavior therapy has been ineffective, given the strong biological drive to eat. Finally, the ability to control hunger has the potential to be life altering, as it may well afford those with PWS new opportunities and independence.So, why is this not the first population to be studied when new obesity drugs come out? The reasons are many. Most practically, the PWS population is small, and running a clinical trial in a small population poses significant logistical hurdles...
FTO - a new gene influencing obesity
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). FTO was implicated as a gene important in determining who is more likely to be obese and at risk for diabetes in two genome-wide association studies published in May [Frayling 2007 ] and June [Scott 2007 , see also Dina 2007 ] of this year.As you closet geneticists may recall, genome wide association studies are all the rage these days due to technological advances that have finally made them practical...