Prader-Willi Syndrome – January 2020 Newsletter Prader-Willi syndrome research group
Prader-Willi syndrome is a genetically determined neurodevelopmental condition. At CIDDRG we have a team of researchers who have specialised in this area for over twenty years. Our early research in PWS led by Tony Holland and Joyce Whittington initially focussed on developing a better understanding of the characteristics of the cognitive strengths and weaknesses observed in people with PWS, the over-eating and other behaviours, and the mental health problems associated with having PWS, and how they might differ according to the genetic sub-type of PWS.
We used brain scanning to show that the response of the brain after food intake was atypical in people with PWS and this supported the idea that people with PWS did not sense ‘fullness’ or ‘loss of hunger’ after eating, in the same way as people without PWS.
We also made the striking observation that the risk of developing serious mental illness differed between the genetic sub-types of PWS with those individuals with maternal Uniparental disomy (UPD) being at greater risk.
The various observations made in the first phase of research have led directly to the second. This new phase is about answering questions about the cause and underlying mechanisms in the brain that result in these problems. The hope is that by understanding these mechanisms some of these problems might be prevented and better treated.
Please find below an outline of our current projects, if you would like further information, please contact us on firstname.lastname@example.org
We are trying to understand if a device called a vagus nerve stimulator can help people with PWS who sometimes find it difficult to control their behaviour.
This device sends small electrical impulses which activate the vagus nerve. This nerve connects the brain and the organs in the upper body. We think that this device can help people with PWS to control their temper.
To see whether it works, we have asked seven people with PWS to try this device and their carers are reporting episodes of difficult behaviour. We are currently collecting data. The result of this study could have a great impact on the lives of people with PWS who have behaviour problems, as well as their families and carers.
Mental health project:
Lucie Aman started her PhD last October, investigating mental health and psychosis in PWS. Ethics approval has been given for a pilot study of 6 adults. Recruitment of participants will start at the end of spring 2018. In the meantime Lucie has published a paper on possible mechanisms of psychosis in PWS.
Digital Health Tracking Project:
We are developing an integrated system that combines smartphone app-based clinical assessments with automatic sensing technology from wearable devices. Our aim is to collect and analyse multivariate physiological, behavioural, and psychosocial data more effectively through this innovative system.
After initial development and feasibility testing, we will adopt this system in various PWS studies to facilitate easier and more accurate data collection over time.
Professor Holland has written a CLAHRC Bite about this project.
Understanding early development and mother infant attachment:
In collaboration with the ‘baby lab’ led by Dr Vicky Leong in the Department of Psychology here at the University of Cambridge, we are developing a project that will explore in much greater detail the early development of infants with PWS.
This research has taken on a much greater significance since the findings from the studies of the French group led by Professor Tauber, on the use of oxytocin in infancy to improve the feeding behaviour and optimise early social development. Dr Leong and her group have developed methodologies for, not only observing infant/mother interactions in detail, but also how to study how different parts of the brain respond depending on what is happening at the time. This is done using special caps worn by the infant and mother that continuously record the electrical activity across different brain regions in a non invasive and acceptable manner.
Vicky Leong and Suzannah Lester completed a pilot study in December 2017. The long-term aim of this research will be to understand the underlying brain mechanisms that may be faulty in infants with PWS and how that relates to their early development and to the switch from under to over-eating.
Cambridge Research Group:
In 2017 we held the first meeting of a network of researchers, mainly based around Cambridge to share information about research. We are now holding regular meetings which we hope will accelerate progress in the field.
We collate research publications in this field which we share with IPWSO.