Research Archives - Prader-Willi Syndrome Association of Victoria, Australia https://pwsavic.org.au Information for families with newly diagnosed children on where to start and who to contact Thu, 09 Jun 2022 06:49:33 +0000 en-AU hourly 1 https://wordpress.org/?v=5.9.9 Preparing for a challenging Flu season https://pwsavic.org.au/news/preparing-for-a-challenging-flu-season/ https://pwsavic.org.au/news/preparing-for-a-challenging-flu-season/#respond Wed, 08 Jun 2022 07:47:24 +0000 https://pwsavic.org.au/?p=3831 Australia is expecting a challenging flu season combined with an increase in COVID-19 infections. You can put things in place to help ensure you are ready to best support those who have Prader-Willi Syndrome (PWS) throughout the coming months. It is very important to be fully prepared and armed with the best knowledge possible of […]

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]]> Australia is expecting a challenging flu season combined with an increase in COVID-19 infections.

You can put things in place to help ensure you are ready to best support those who have Prader-Willi Syndrome (PWS) throughout the coming months.

It is very important to be fully prepared and armed with the best knowledge possible of how to manage COVID for someone who has PWS. This is especially significant in the home environment (whether the family home or supported living) as those are the supporters who can make the most comprehensive observations.

We have prepared a Prader-Willi Syndrome Covid Information brochure in collaboration with Professor Irving and Professor Buising from the Royal Melbourne Hospital Respiratory specialists department.

This document has been designed mainly for families of our adults, disability support providers and General Practitioners.

Download now


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]]> https://pwsavic.org.au/news/preparing-for-a-challenging-flu-season/feed/ 0 Prader-Willi Syndrome Research Update (January 2021) https://pwsavic.org.au/news/prader-willi-syndrome-research-update-january-2021/ https://pwsavic.org.au/news/prader-willi-syndrome-research-update-january-2021/#respond Tue, 09 Feb 2021 06:50:52 +0000 https://pwsavic.org.au/?p=2938 Below is a summary of some recently published PWS-related research.   Source: Foundation for Prader-Willi Research Genetic research  PWS is caused by the absence of paternally expressed gene products from a small section of chromosome 15 (hence 15 for 15).  A recently published article describes efforts to activate the normally silent maternal section of chromosome 15 without negatively affecting other […]

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]]> Below is a summary of some recently published PWS-related research.  

Source: Foundation for Prader-Willi Research

Genetic research 

PWS is caused by the absence of paternally expressed gene products from a small section of chromosome 15 (hence 15 for 15).  A recently published article describes efforts to activate the normally silent maternal section of chromosome 15 without negatively affecting other functions.  The approach was successful suggesting that activation of the maternal section of chromosome 15 might have potential as a therapeutic strategy for those with PWS.  There is still a long way to go with this work but it is an encouraging step forward. 

Another recent work gives a good general overview of PWS, the role of genetics in clinical presentation and potential treatments for those with the condition. 

Biology of PWS 

Those with PWS are understood to have impaired hypothalamic endocrine (hormone) function but the reason for this is not clear.  A recent study by Victor Chen et al. has shown that deficits in secretory granules, which store chemicals known as neuropeptides for release into the blood.  The paper postulates that the lower numbers of secretory granules could be one of the reasons for the clinical characteristics of those with PWS.  The authors suggest that these findings suggest unanticipated approaches for therapeutic intervention (treatment), thus alleviating several pathogenic processes in those with PWS.  Again, there is still much work to be done but the results are promising. 

A study from the laboratories of Dr Golder and colleagues recently published an article in Translational Psychiatry on the relationship between 2 PWS-related genes and autism. Increased UBE3A mRNA levels were correlated with developmental functioning scores in the deletion group, and increased autism features in the non-deletion PWS group. 

Zhang-Molina, Schmit and Cai have modelled a biochemical mechanism that is consistent with feeding behaviours seen in those with PWS.  They found that activating a chemical called PKC-d and inhibiting another called Htr2a suppresses feeding whereas the opposite is true for increasing feeding.  If both chemicals are activated feeding is also suppressed.  This could be significant in treatment and therapy options for those with PWS. 

Pace et al. relate decreased expression of the SNORD116 gene (one that is made in the region where PWS defects are seen) to abnormal sleep patterns, food intake and temperature regulation. 

Clinical research  

A study of weight Body Mass Index (BMI) change over by Theresa Strong et al. of 165 adolescents and adults with PWS has shown a relatively small increase in weight and BMI over a 6-month period.  Significantly, those individuals on growth hormone started with lower BMIs and were more likely not to show weight increases according to the study. 

Drs. Pascal Barone and Maithe Tauber and their teams at the University of Toulouse in France have been working to understand how those with PWS process facial cues and sounds, including voices.  They found that  

“deficits in voice and non-voice recognition (sounds that aren’t voices), difficulty distinguishing voices from environmental sounds, slower processing times and poor emotional recognition means that individuals with PWS may be at a disadvantage compared to their typical peers in staying attuned to social cues. All individuals with PWS are impacted, but those with PWS by Uniparental Disomy (UPD) are more likely to have a harder time. The development of tailored PWS interventions, based on an understanding of the specific weaknesses exhibited by those with PWS, may lead to more fulfilling social interactions for individuals with PWS and their social group.”  

Source: https://www.fpwr.org/blog/facial-and-voice-processing-issues-affect-social-interactions-in-pws 

Although hip dysplasia is far more prevalent in those with PWS than the general population (8 to 30 times higher) Dr Harold van Bosse and collaborators have released new guidance on treatment of the condition in babies and infants with PWS.  Based on a decade-long study of outpatients from hospitals in the United States that reviewed 9.4 million patients who received hip or knee replacements, only 65 were diagnosed with PWS, indicating that the increased prevalence of hip dysplasia in those with PWS does not lead to increased likelihood of hip and knee replacements. The new guidance suggests observation rather than surgical intervention for those with stable or improving hips. 

Measuring hyperphagia in those with PWS is usually assessed through a survey response.  To try to find a more accurate and definitive measure of hyperphagia researchers have been evaluating eye tracking.  The study compared how children between the ages of 3 and 11 years looked pictures of food, animals and household items.  They found there wasn’t a significant difference between those with PWS and those without PWS but found those with more advanced food-seeking behaviours looked at pictures of food for longer periods.  The researchers concluded that, based on this finding research into eye tracking should continue. 

Please note that the Prader-Willi Syndrome Association of Victoria provides this information to report to its members – not to impose any particular treatment options.  Any decisions about treatment options should be made in consultation with your own medical team

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]]> https://pwsavic.org.au/news/prader-willi-syndrome-research-update-january-2021/feed/ 0 Could a Natural Supplement be the answer to ‘correcting’ the hunger in PWS Patients? https://pwsavic.org.au/news/could-a-natural-supplement-be-the-answer-to-correcting-the-hunger-in-pws-patients/ https://pwsavic.org.au/news/could-a-natural-supplement-be-the-answer-to-correcting-the-hunger-in-pws-patients/#respond Fri, 26 Jun 2020 00:57:13 +0000 http://pwsavic.org.au/?p=2725 My name is Joanne Griggs, and for those, I don’t know, especially those with younger children, I’m taking this opportunity to introduce myself, my research and my family. My husband, Adam, is an allied health qualified artisan at Montsalvat. There he has created the “Jester’s workshop”, which is a truly magical clowning and puppetry destination. […]

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]]> My name is Joanne Griggs, and for those, I don’t know, especially those with younger children, I’m taking this opportunity to introduce myself, my research and my family.

My husband, Adam, is an allied health qualified artisan at Montsalvat. There he has created the “Jester’s workshop”, which is a truly magical clowning and puppetry destination. We encourage you to come visit. For information please visit the ‘Jester Workshop’ Facebook page. We sell puppets and present all sorts of fun workshops. Then there’s Ruben and Mia, our 15-year-old twins.

Ruben is a year ten student with his own Lego business at Camberwell Market. He is well on the way to becoming an entrepreneur and/or a professional basketballer.

Mia has Prader-Willi Syndrome (UPD) and is in year eight at a mainstream school. Her main love is puppeteering, and we have encouraged this endeavour strongly. Mia works at Montsalvat with her Dad and is a pen pal to Cheryl Henson, Jim Henson’s daughter (Muppets).

I am currently a scientific researcher Postdoctoral Fellow at Victoria University (VU) and a lecturer at Trinity College Uni-Melb. My work in Prader-Willi Syndrome continues. Over the past 13 years (9 at VU), my objective has been to alter the appetite behaviour in Prader-Willi Syndrome. Before Mia’s diagnosis, I was a professional artist and teacher of 30 years. When the twins were born, I focused on creating targeted intervention techniques for Mia’s developmental delay, and I authored a book, “Miracle in Potential”, which explored the use of arts as early-intervention. This was foreworded by Prof. Dinah Reddihough, of the RCH.

When we received a diagnosis of Prader-Willi Syndrome, due to Mia’s weight and hyperphagia, we knew we would have a lifelong battle with appetite. It was at this time that we prayed for a cure.

The answer came in a health food-brochure talking about ancient cactus plants utilized to sustain tribal hunters when food was unavailable. With hope in our hearts we researched cactus for appetite and found Caralluma Fimbriata extract (CFE) – an Indian famine-food. 

Currently no natural supplements are recommended (by medical practitioners) to block the hunger associated with the Prader-Willi Syndrome characteristics. For years I was thinking the our scientific research would demonstrate that Caralluma was, “blocking” hunger.

We now know Caralluma fimbriata extract (CFE) – an Indian cacti-form succulent – is actually, “correcting” the hunger.

Dr Joanne Griggs

The research we have been doing at Victoria University and through the Florey Neuroscience Institute with generous gifts from Gencor Pacific and the Garvan Institute has shown that it’s possible to reinvigorate a natural state of homeostasis in someone with Prader-Willi Syndrome. This means, the individual ingesting the supplement CFE will be hungry and then satisfied after food. Then hungry again and then satisfied after a meal, just like you or me. This is an important distinction as we all need to feel the experience of ‘feeling hungry and feeling full”.

‘from our research we have determined CFE to significantly improve appetite behaviours in children and adolescents after 4-weeks treatment, compared to placebo, recorded by parent/carers. ‘ The highest response was at the recommended adult dose (1000mg/d CFE) in average weight participants.’

Dr Joanne Griggs

Further, our animal study has isolated the mechanistic action of CFE. Currently our PhD student “Balu”, is working on researching this mechanism in cells. Due to Balu’s work being unpublished we are unable to release full details yet, but we do know through my work and collaborations with Prof. Stefan Stamm in Kentucky  USA, that CFE has demonstrated epigenetic modifications which increase full-length 5-HT2c receptor mRNA expression.  This means that the cactus creates a change in the genetics within a cell, which improves serotonin reception along a neuronal pathway in the brain.

This pathway is identified in appetite balance and is important in feeling “full”. It is well known that this specific receptor is involved in hypothalamic recognition of satiety however, in PWS due to paternal deletions of SNORD115 pre-RNA scientists have found that this receptor is truncated (shortened). This means it doesn’t function. I found out about CFE’s action with this receptor during my PhD and now Balu is researching CFE’s ability to transcribe and translate the full-length 5-HT2c receptor mRNA.

Though toxicology of the powdered extract CFE has been investigated at extremely high doses in animals (5000mg/kg bw/d), we have still been trying to fund a large clinical collaborative study to look at a higher dose of CFE for adults with PWS. The difficulties faced have mainly been due to CFE being a natural product and Australia being a smaller population. Mia’s medical practitioners have been inspired by her capacity to resist food however, they are not allowed to recommend something before it has been through all the necessary clinical processes. We need phase 2 & 3 trials to be completed. These include a dose response trial and a larger clinical trial. We believe orphan drug status may be available, making CFE an available early intervention.

What’s Next?

Though toxicology of the powdered extract CFE has been investigated at extremely high doses animals (5000mg/kg bw/d), we have still been trying to fund a large clinical collaborative study to look at a higher dose of CFE for adults with PWS.

Further, the team at VU is interested in hearing from families of younger children as I believe CFE could be utilized as an early intervention. If we can create a longitudinal study in children with PWS we may be able to research if CFE can create a balanced lifestyle against preoccupation with food in individuals with PWS. 

How has Caralluma Fimbriata extract helped Mia and the Griggs Family?

Importantly, we as a family have free access to food. This means a free open kitchen and Mia is allowed time at home alone. We have no interventions at school, though we communicate regarding excursions. Mia knows what to do, i.e. if someone shares cake, Mia brings it home. Overall Mia has a very clear routine with some wriggle-room. We don’t stop her eating any type of food, though she knows what’s healthy and what’s not.

All nutritious elements are met including eating a good amount of protein balancing fats and dropping carbs. Everything is balanced and all proportions are smaller. Some elements alter day to day i.e. for breakfast one day she eats toast with fruit and one-day cereal and milk. Mia needs salt and due to CFE she drinks water easily. People always ask us, “was she ever hungry?”. Yes!!! Her hyperphagia was extreme. At 2 years of age, Mia was very over-weight and her hunger led the endocrinologist to a diagnosis (before this it was suggested she had cerebral palsy). Fatefully her diagnosis led me to research appetite suppression and from early on the administration of a simple daily supplement altered Mia’s appetite and our lives.  

In the meantime, I wish you all the best in your own endeavours. Mia no-longer has a problem with free access to food. We know that appetite is not the be-all and end-all in PWS as many other aspects of PWS also keep us extremely busy. Even so, it is lovely to not worry when we hear Mia get up in the middle of the night by herself. It’s water she is getting!! My wish is that more families can experience this freedom.

Mia’s intervention

To understand more about Mia’s intervention, you can read the following case study: Single-Case Study of Appetite Control in Prader-Willi Syndrome, Over 12-Years by the Indian Extract Caralluma Fimbriata, Genes 2019, 10(6), 447;

Read more

If you are interested in research into CFE and would like to help, you can contact either Dr Joanne Griggs and Professor Michael Mathai College of Health and Biomedicine, Victoria University, Melbourne  Email:  joanne.griggs@live.vu.edu.au or Michael.mathai@vu.edu.au

Further Information

Prader-Willi Syndrome (PWS) is a rare, complex, unique, life-threatening multistage genetic disorder which affects 1 in 15,000 births and results in an abnormality of chromosome 15. PWS can have a significant impact on behaviour, learning, mental and physical health, community inclusion and social relationships. People with PWS exhibit high anxiety, complex and challenging behaviours and cognitive dysfunction throughout their lives. PWS is a spectrum disability, and the degrees of visual abnormality varies immensely. Many people with PWS also have psychiatric problems and autistic characteristics. A defining characteristic of PWS is hyperphagia, or a compulsion to eat.  For more information visit www.pwsavic.org.au

Prader-Willi Syndrome Association of Victoria (PWSA Victoria) is a volunteer lead ACNC registered Australian Charity, with many volunteers having lived experience. Their role is to work closely with organisations around the world, whose vision and purpose align with their own, to ensure their local PWS community is well supported, while researchers around the world work hard to find a cure and viable treatments. The PWSA Victoria’s aim is to continue to break down barriers and create a world where everyone with PWS has access to the right tools, to enable them to live a full and inclusive life. For more information, please visit www.pwsavic.org.au

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