Projects

Evaluating factors that may affect the efficacy of intranasal oxytocin treatment in PWS

Recent studies with oxytocin treatment in PWS have yielded inconsistent results. Intranasal administration of oxytocin by the Toulouse group decreased disruptive behaviors in patients with PWS, but a recent randomized trial in Australia of adolescents and adults of intranasal oxytocin (IN-OT) found no effect on syndrome-specific behavior in false

Gene Expression Analysis in PWS Subject Derived Dental Pulp Stem Cell Neurons (year 2)

There are two goals to this study: 1) To identify differences between individuals with PWS with autism from those who have PWS without autism using technology that analyzes how genes are expressed and 2) To identify a new role for SNORD115 and SNORD116 which may help explain the PWS condition or how other very small molecules that do not make false

A post-mortem study of von Economo neurons in the frontal cortex of brains of persons with PWS (year 2)

Although PWS is best known for hypothalamic obesity and hyperphagia, the cognitive and behavioral issues are the most challenging for families. Previous neuroanatomical studies in PWS have examined cells in the hypothalamus. To date, no data are available on the cellular structure of the brain in PWS in the frontal lobe where executive function false

Developing objective biomarkers of hyperphagia in children with PWS

Hyperphagia is one of the distinctive features of Prader-Willi syndrome (PWS), and when not carefully monitored or controlled, can be life threatening. It emerges in early childhood and remains a life-long challenge for individuals with PWS and their caregivers. To effectively manage and, in the future, treat hyperphagia, it is important to be false

Prevalence and aetiology of PWS low level mosaicism in UPD undetected by standard testing

Prader-Willi syndrome (PWS) is a severe neurodevelopmental disorder found in ~1 in 15,000 to 20,000 births. PWS phenotype caused by the loss of function of several genes located on chromosome 15. These genes are usually ‘switched on’ on the chromosome 15 that is inherited from the father and ‘switched off’ on the chromosome 15 inherited from the false

Role of the endocannabinoid system in PWS-induced osteoporosis and skeletal growth

Osteoporosis is characterized by weakened and fragile bones and considered one of the major health abnormalities associated with Prader-Willi syndrome (PWS). This problem affects almost 90% of patients with PWS and has a negative impact on their quality of lives by causing physical and functional limitations that could also affect longevity. In false

Transcranial direct current stimulation, startle modulation and event-related potentials of the brain

Hyperphagia (extreme overeating) is the most significant factor contributing to obesity in Prader-Willi syndrome (PWS) and considered a cardinal feature. PWS is recognized as the most common syndromic cause of life-threating obesity, but no medications are currently available to decrease appetite or lessen obesity in PWS.

Proof of concept study of vagus nerve stimulation from an external device in PWS (year 2)

The hypothesis set out in our original application is that t-VNS given over time and following a protocol established for its use in epilepsy, will prevent the prolonged and debilitating temper outbursts and associated emotional dysregulation that characteristically affect people with PWS. We further propose that any improvements in behavior are false

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