The Foundation for Prader-Willi Research and Prader-Willi Research Foundation of Australia collaboration

The Foundation for Prader-Willi Research and the Prader-Willi Research Foundation of Australia announce their collaboration to support a new study evaluating the effects of exercise training for individuals with PWS.

The Foundation for Prader-Willi Research and the Prader-Willi Research Foundation Australia announce today their joint support of a new research project, led by Dr. Nora Shields of La Trobe University, evaluating the effects of exercise training in individuals with PWS.

Funding provided by the two organizations will provide top-up funding for a PhD scholarship from La Trobe University in Melbourne. The PhD scholar will join a team of researchers who have received funding from the Australian government, through the Medical Research Future Fund: Rare Cancers, Rare Diseases and Unmet Need program.

“People with PWS have smaller and weaker muscles which makes it difficult for them to do daily activities, to exercise and to control their weight.” Professor Shields said. “Exercise could help people with PWS build up their muscles, burn off extra calories and encourage them to become more active.”

In this study, Dr. Shields, a Professor of Physiotherapy, will oversee a 6-month exercise program and evaluate whether the program makes it easier for people with PWS to complete daily tasks and is cost-effective. 

“We’re excited to partner with the Prader-Willi Research Foundation of Australia to accelerate this important study.  Optimizing exercise in PWS is critical to helping individuals with PWS lead active, healthy and fulfilling lives”, said Theresa Strong, Director of Research Programs for the Foundation for Prader-Willi Research.

“PWRFA is sharply focused on improving life outcomes for people with PWS and their families and we are proud to be partnering with our international colleagues on this important study,” said Kathleen Jones, CEO of the Prader-Willi Research Foundation Australia.

Outcomes of this study will improve clinical care for people with PWS by making available online resources and best practice to help families, exercise professionals, and health agencies implement appropriate exercise training regimens for people with PWS. 

Professor Shields will collaborate with La Trobe colleagues Professor Nicholas Taylor, Professor Christine Bigby, and Associate Professor Luke Prendergast, as well as researchers from the University of Melbourne, the University of Sydney, and Deakin University.

Several hospitals around Australia will also take part in the trial.


The Prader-Willi Research Foundation of Australia (PWRFA) is delighted to be joined by the US Foundation for Prader-Willi Research (FPWR) to support cutting edge Prader-Willi syndrome (PWS) research by Ass/Prof Marnie Blewitt at Australia’s Walter and Eliza Hall Institute (WEHI).

PWRFA’s donors have funded earlier stages of Ass/Prof Blewitt’s research, which allowed her to identify and test compounds that inhibit SMCHD1, a protein which silences PWS-region genes on the maternal chromosome 15. These genes are known to cause PWS and it is hoped that by inhibiting SMCHD1, we can allow these vital genes to reactivate. 

Based on the success of Ass/Prof Blewitt’s early stage work the US FPWR is investing in the next research stage, which will allow testing on patient cells displaying PWS and Shaafs Yang Syndrome. 

If Ass/Prof Blewitt can show that eliminating SMCHD1 does activate the target genes in these cells, this will serve as proof-of-concept for a potential genetic therapy for both PWS and Schaafs Yang Syndrome. While proof-of-concept remains a long way from a viable and available treatment, it is a vital step toward addressing these underlying genetic conditions.

“Ass/Prof Blewitt’s work gives people with PWS and their families incredible hope for a life-changing treatment,” PWRFA CEO Kath Jones said today.

“PWS is such a complex, multisystemic condition that treatment of each symptom would involve an enormous research and development effort – while requiring a person receiving treatments to take many medicines and undergo a significant number of interventions.”

“Targeting the genetic cause of PWS on the other hand could mean a more focused treatment development, and produce a treatment which is more comprehensive, more effective and easier to administer.”

You can learn more about Ass/Prof Blewitt’s amazing work in this short video.

Sibling Cord Blood

I had a conversation with a parent today.  She has a little boy with PWS and is currently pregnant. She wanted to know if collecting and storing a cord blood sample from her soon to be born child would be helpful for researchers working on PWS.  We asked a panel of 7 experts this question…

Is the cord blood of an unaffected sibling just the same as the general population, or is there a value add for PWS (research) in having the siblings cord blood?

The experts all agreed that, at this time, there are no particular research or health advantage for PWS from collecting and storing cord blood samples from unaffected siblings.  As one expert put it:

“It’s very hard to predict which direction all this research will take – anything is possible, there is so much we still don’t know. But right now I don’t think there is a value add in collecting cord blood from an unaffected sibling.”

There are a range of arguments for and against storing an individual’s cord blood, including the potential to help understand any future health issues the sibling has.  However, it can be costly and the benefits for the general population are largely undefined (future potential).    Most research using cord blood cells as an intervention is aimed at brain injury rather than disorders where the brain cells don’t have the right genetic instructions available.

Although there are no PWS-specific advantages to storing cord blood, a number of the researchers we consulted did point out that regular (as opposed to cord) blood samples from siblings are very valuable in scientific studies.  The siblings will share 50% of their genetics, making any future genetic or epigenetic comparisons easier.  Blood samples from siblings are excellent controls – but they don’t need to be cord blood.

Associate Professor Marnie Blewitt explains how SMCHD1 is regulating gene expression

In world-first research published in August this year in Nature Structural & Molecular Biology, Associate Professor Marnie Blewitt explains how SMCHD1 is regulating gene expression. SMCHD1 plays a key role in silencing the MAGEL2 cluster of genes which are involved in PWS. 

What’s really exciting about understanding how SMCHD1 operates is how this information can be used to boost efforts to develop drugs for diseases like PWS. When we understand the basic science behind a system then we can target it in a precise and controlled fashion. 

Pilot experiments last year identified three non-toxic compounds which interact with SMCHD1 and inhibit its action in biochemical assays. This year PWRFA have funded Marnie to generate mouse brain cells so that she can find out if these compounds can activate Magel2. Marnie and her colleagues at the WEHI will bring together the data from these experiments with their new knowledge about how SMCHD1 is regulating gene expression to craft and refine potential treatment options for PWS.

You can read more about the recent SMCHD1 research here:

Oxytocin may improve feeding and social skills in infants with Prader-Willi

New research from France shows oxytocin can improve feeding and social skills in infants with Prader-Willi syndrome. These results are based on 18 infants (under 6 months old) and use well-established tests of sucking and swallowing, and behavioural measures including parent-infant interactions. A useful summary written by Dr Theresa Strong is available from The Foundation for Prader-Willi Research (USA) here.

First proof of principle for an epigenetics-based therapy for Prader-Willi syndrome published

Exciting news - research has now been published which provides the first proof of principle for an epigenetics-based therapy for Prader-Willi syndrome. The study showed two selective inhibitors were able to activate the imprinted genes on the maternal chromosome of cells (which are usually repressed in people with PWS). These results raise the possibility that inhibitors or drugs derived from them may be able to activate imprinted genes in people with PWS.

Our usual words of caution - these are early stage results and rely on mouse models, but they have been published in a very high quality scientific journal and undergone peer review. The authors have outlined plans moving forward including comprehensive evaluation of the inhibitors in pre-clinical studies to fully explore their therapeutic potential for treating PWS.

Help us develop the map for a life-changing genetic treatment for Prader-Willi syndrome

Today's science offers us unprecedented opportunities to develop life-transforming treatments and the Prader-Willi Research Foundation Australia was established to make these treatments a reality. Scientists advise us that we can now target the underlying genetics of Prader-Willi and that it is likely that the brain will catch up on development.

But there's a problem

Right now developing the right biotech is like driving from Sydney to Perth without a map. Which road is best, safest, fastest? There a number of different biotechnologies in which we could invest but we don't know which are the best to target the PWS genes. We also don't know how easy or fast it will be to make them safely available to patients.

Here's what we're doing about it

We will draw a map. We will thoroughly evaluate the available biotechnologies to determine which ones offer the best chance of a treatment, safely and quickly. This way we can raise precious funds for the development phase and give donors confidence that their money will be spent in the best possible way.

You can join us

Our report will cost $30,000. It will enable us to raise funds to develop the treatment and give us the best chance of changing lives as quickly as possible. You can join us in changing lives by visiting or the donate page on this website.

Key recommendations from Australian Prader-Willi syndrome healthcare workshop

Thank you to everyone who contributed to our healthcare workshop last week - the parents, clinicians, researchers, government representatives and care providers. We'll be sharing our plan moving forward very soon.

Key recommendations from the Prader-Willi syndrome healthcare workshop:

  • Good healthcare for Australians with Prader-Willi syndrome relies on fostering deep expertise locally.
  • Healthcare providers (GPs, hospitals and allied health) need professional support and resources to incorporate the specifics of Prader-Willi syndrome into their management.
  • In Australia, technology can play a critical role to improving access to Prader-Willi syndrome expertise. This can have a real impact on improving diagnosis, treatment and management.
  • Research is a critically important component of improving healthcare for those living with Prader-Willi syndrome.

Focus on: Obesity and Prader-Willi

Why is maintaining diet for children with Prader-Willi syndrome important?

One of the main symptoms of Prader-Willi syndrome is excessive hunger, known as hyperphagia. Children with Prader-Willi tend to have a rapid increase in their interest with food, especially at around 3 - 8 years old. If excessive eating is not strictly monitored, it can cause significant weight gain and obesity. Obesity has numerous long term health implications including cardiovascular disease, type 2 diabetes mellitus and sleep apnea.

Maintaining a well-balanced calorie controlled diet for children with Prader-Willi is critical. The important thing to know about hyperphagia is that people with Prader-Willi have no control over their feeling of hunger. Support and help from friends and family can be vital in helping the person with Prader-Willi maintain their health and enjoy a full and rewarding social life.

Why do people with Prader-Willi have hyperphagia?

Hyperphagia in Prader-Willi is still not fully understood, but one cause implicated is an abnormal imbalance of the hormones oxytocin and ghrelin.

Ghrelin is known as the 'hunger hormone'. When your stomach is empty, it triggers the secretion of ghrelin which sends signals to the brain to feel hunger. This hormone tends to increase appetite rapidly right before eating, and then gradually decreases during and after consumption. People with Prader-Willi have been shown to have high ghrelin levels, which may be a contributor to hyperphagia. In addition to this, studies have shown that people with Prader-Willi can have low levels of oxytocin in the body. Oxytocin is widely known as the 'happy hormone' and is linked with appetite suppression. The combination of these factors may contribute to hyperphagia.

But it's just one snack - how can that hurt?

People with Prader-Willi generally have a lower caloric need, sometimes by 20 - 40% less calories than someone without Prader-Willi. There are a number of reasons for this including lower lean muscle mass and differences in physical activity of people with Prader-Willi.

Healthcare professionals are generally involved in understanding an individuals' caloric need and recommending daily nutritional intake. This means that even occasional small snacks or treats can have a significant impact.

Still wanting to give a treat? There's lots of alternatives to food - think about books, small toys, or a chance to spend time doing something the person enjoys.

How can I prepare if someone with Prader-Willi is visiting my house?

  • Understand that the parent, family or carer live with Prader-Willi every day. Their requests, suggestions and advice around food is based on sound medical advice.
  • Research and understand Prader-Willi syndrome and the symptoms. We recommend starting at , and
  • Make sure food or snacks are put away out of view (e.g. in cupboards). This can make it easier for the person with Prader-Willi to avoid temptation or being distracted.
  • Understand that Prader-Willi syndrome evolves as the child grows older, and this can also be affected due to medications administered. Their needs may change over time, so asking for an update if you haven't seen the child for awhile is the best way to make sure you've got everything covered.


Ask the researcher: What is Pitolisant?

What is Pitolisant (Wakix™)?

Pitolisant (Wakix™) is a new medication which has been approved in Europe for the treatment of narcolepsy in adults based on its ability to improve wakefulness. It has recently attracted attention as having potential application in PWS to alleviate excessive daytime sleepiness.

How does Pitolisant (Wakix™) work?

The active substance in Wakix, pitolisant, works by attaching to receptors in the brain called 'histamine H3 receptors'. This increases the activity of certain brain cells called 'histamine neurons', which are important for keeping the body awake (from EU Med Agency). Scientific Journal Neuropharmacology recently published a special issue on histamine receptors, where researchers suggested there may be potential applications (and overlap) in obesity, energy homeostasis and sleep disorders. Prof Dr Holgar Stark spoke at IPWSO16 on the topic and notes in his abstract that at this stage "the therapeutic potential is highly speculative" but worth investigating. PWRFA agrees with this view noting that "at this point it is theoretical and speculative but worth considering for future studies".

The reported side effects of Pitolisant can include anxiety, depression, nausea and insomnia.

Are there other alternative medications available?

It's worth noting that there is a drug already available which has been shown to successfully treat excessive daytime sleepiness in PWS, Modafinal. Modafinal has also been shown in several studies (in typically developing individuals) to enhance certain aspects of cognitive function and has the reported side effect of decreasing appetite. In the US and France, Modafinil is being prescribed to people with PWS. In Australia, it can only be obtained by prescription from an appropriate healthcare professional.

Note that Modafinil can also cause increase anxiety, particularly in those in who have a high baseline.

What is the difference between Pitolisant and Modafinil?

The two treatments work on different pathways, which may indicate that they could have different effects in PWS. To our knowledge, no head-to-head comparisons of the two drugs that have been conducted in PWS. In a head-to-head comparison in typical patients with narcolepsy, the efficacy of Pitolisant is very similar to that of Modafinil despite the fact each is thought to work on different pathways. Each has similar reported safety profiles, although we note that data has not yet been published for Pitolisant in children.

What else should I know?

In the short-term, people with PWS who display narcolepsy or similar symptoms should discuss the condition with an appropriately qualified health professional and investigate appropriate medications.

You can read more about Pitolisant at:

You can read more about the effects of Modafinil:

Our thanks to PWRFA Research Director Dr Diane Webster for answering this question from a member of our Facebook community. You can join the community at

Focus on: Sleep apnea and Prader-Willi

What is sleep apnea?

Sleep apnea is a condition where breathing stops for a short period during sleep. The condition can be repeated hundreds of times every night, causing reduced quality of sleep and having an impact on cognitive function and behaviour. Sleep apnea is common in PWS, with around 80% of children who have PWS thought to be affected with varying severity.

As the people most familiar with sleep patterns and behaviours, parents are the most likely people to be able to detect possible sleep apnea in children with PWS. There are simple ways to detect the possibility of sleep apnea. By being aware of this sleep disorder, parents may be able to seek early treatment for sleep apnea, initiate lifestyle interventions and have a positive impact on other aspects of their child's wellbeing.

Why is sleep apnea more prevalent in people with PWS?

Several aspects of PWS may impact on the prevalence of sleep apnea:

  • Poor muscle tone in PWS can reduce breathing control.
  • If obesity is present, fat deposits may restrict breathing circulation by reducing lung volume and narrowing the upper airway.
  • Sleep apnea is more common in children with PWS than adults. This may be due to enlargement of soft tissues around upper airways which occurs at a young age, particularly from the ages of 2 to 8 years old.
  • Growth hormone therapy is a common treatment in PWS to improve mobility and behaviour. It has been reported that a small number of people taking growth hormone for PWS symptoms may develop sleep apnea after starting treatment.

Paying attention to sleep apnea symptoms or routinely scheduling sleep studies can help to avoid or minimise sleep apnea.

How does sleep apnea affect people?

When people have sleep apnea, they will have fragmented sleep. This happens because when something blocks our breathing, the brain wakes the body up. In sleep apnea, the phenomenon is generally caused by the muscles in the back of the throat relaxing and narrowing the airway, causing the brain to sense this difficulty in breathing and briefly wake the person. It happens randomly and in short intervals throughout the night, so most people do not realise it is occurring although they may be briefly awakened between 5 - 30 times each hour.

Sleep apnea is associated as a risk factor for many health problems, including high blood pressure, cardiovascular problems and diabetes. Moreover, in children who have PWS it can impact on cognitive function, behaviour and management of depression or anxiety.

How can we detect sleep apnea?

The easiest way to detect sleep apnea is by listening to the person sleep. When people are tired or in a deep sleep phase, it is common to snore. However, a person who has sleep apnea will snore louder and have little to no rhythm due to the blocking of the airway. Other signs of sleep apnea can be sounds of choking or gasping during sleep.

If the signs above are heard in someone with PWS, parents or carers should consult with an appropriate healthcare professional such as their general practitioner. The common way to medically diagnose sleep apnea is by doing an overnight sleep study (polysomnography). This test records brain waves, blood oxygen level, heart rate, breathing and eye or leg movements during sleep. It is usually done in a hospital or sleep centre, but some clinics may also provide wireless devices so the test can be performed at home.

There are two types of sleep apnea which will be considered by the healthcare professional - obstructive sleep apnea (OSA) which occurs if there is a blockage in the upper respiratory tract during sleep, and central sleep apnea (CSA) which is less common and caused by lack of respiratory control.

What can we do to avoid or reduce the impact of sleep apnea?

If you're concerned that your child may have sleep apnea, we recommend that you discuss with an appropriate healthcare professional. However, there are some sleep tips that can be followed which may help to avoid or reduce the impact of sleep apnea:

Stick to a sleep schedule
At least 7 hours of sleep per night is recommended, with a regular bedtime.

Try to establish a comfortable sleep environment
This may include quiet, warm temperature, comfortable bed and/or limited lighting in the bedroom. It may be better to remove the television, computer, radio and telephone which can all cause distractions. 

Establish relaxing bedtime rituals
Bedtime rituals could be listening to slow music, reading, warm baths or small warm drinks. Trial different rituals to determine what works best for the person involved.

Activities during the daytime
As well as being beneficial for managing other symptoms of PWS, exercise and outdoor activities can also help to improve the quality of sleep

Sleeping on one side of the body and losing weight can avoid or reduce sleep apnea

Things to avoid
Avoid screen-based activities like computer games or watching television which may reduce a sleep-promoting hormone called melatonin. Avoiding consuming caffeine at least 4 hours before sleep is also recommended. Although excessive sleepiness during the day can occur with PWS, daytime naps can increase the difficulty of sleeping at night. Parents and caregivers should consider the balance between daytime naps and night-time sleep.

While sleep apnea is common in children who have PWS, early detection by parents combined with simple lifestyle changes can assist in managing this condition and positively impact on quality of sleep and wellbeing.

This post was written by four University of Melbourne science communication students, Jessica, Jinia, Elena and Frances. Each is a Masters-level research active science student and undertook this work under the guidance of their course coordinator Dr Jenny Martin and our volunteer director of science communication Melanie Carew. You can read more about the University of Melbourne Science Communication subject here.

Volunteers wanted: NSW study on oxytocin and the autonomic nervous system in Prader-Willi syndrome

Professor Stewart Einfeld and Lauren Rice are conducting a new study that aims to learn more about oxytocin and the autonomic nervous system in Prader-Willi syndrome, and how abnormalities in these systems may be contributing PWS behaviours and symptoms.

The study is looking for individuals with and without PWS aged 13 to 30 years.

Eligible participants will be invited to attend a 2-hour visit at the University of Sydney in Camperdown. At this visit, participants will be invited to take part in 4 activities. These include:

  • Two cognitive tasks
  • Provide a sample of blood
  • Provide a sample of saliva
  • Participate in three 5 minute activities while wearing a heart rate monitor.

Participants will receive a $50 gift voucher as a reimbursement for their time.

To learn more, please contact Lauren Rice,


Focus on: Exercise and Prader-Willi, information for gyms and trainers

Why is exercise important for people with Prader-Willi syndrome (PWS)?

Physical activity can provide a number of benefits to people living with PWS, including management of common symptoms such as obesity, reduced muscle tone and anxiety. A particularly important aspect of PWS that an individualised exercise plan can assist with is balancing the amount of energy in (eating) with the amount of energy out (exercise).

Reduced muscle tone is often a symptom of PWS. This can occur across a wide range of severity, so not all individuals with PWS will experience this to the same extent. Lower muscle tone can affect coordination and balance and result in generalised weakness. Exercise is an effective way of improving muscle tone, which is associated with general improvements in strength and energy levels.

Daily exercise in people with PWS can help maintain a healthy weight and improve physical strength and overall health. 30 minutes of physical activity each day is the recommended average. This can improve health and well-being, and is especially important for people with PWS for the management of their weight and improving muscle tone.

What are common difficulties people with PWS may face with exercise programs?

People living with PWS can face some additional challenges which should be considered when designing an exercise program. For example, they may have low muscle tone which can contribute to poor coordination, balance and strength. This can often be couple with the physical strain of obesity and the common symptom of scoliosis, which is an abnormal curvature of the spine. Scoliosis occurs in approximately 45% of people who have PWS, and can have negative effects on flexibility, strength and posture.

Children with PWS may also have behavioural difficulties. These can include anxiety, a tendency to lose interest quickly, difficulties in adapting to change, emotional outbursts and mood swings. A preoccupation with food and acquiring the next meal may distract the person from engaging with the activity. These difficulties can further deter people with PWS from participating in physical exercises. However a well-tailored exercise regime which meets the needs of people living with PWS can be an important aspect in encouraging a healthy lifestyle.

What should be considered when tailoring an exercise program fro someone with PWS?

As the syndrome is characterised by a broad spectrum of symptoms, the abilities of different people with PWS may differ. Generally, people living with PWS have reduced muscle strength, power and mass. This may also impact reaction-time, speed and coordination.

Participation in a wide-range of exercises that engage all muscle groups is an effective way to manage weight gain. For people with PWS, resistance and weight bearing activities can be effective at improving muscle tone. Lifting light weights, using stationary machines such as a bicycle or rowing machine, and activities involving jumping or throwing can all be suitable. However, those with scoliosis may be at increased risk of injury or find weight bearing exercises particularly difficult. The person's physician should be consulted for advice if there are any concerns.

Moderate aerobic exercises are helpful in losing, as well as maintaining weight. Walking, jogging, cycling and any other activities that produce a mild increase in heart rate and breathing can be useful activities for most people with PWS. People living with PWS may be at particularly high risk of sprains and joint pain from high impact activities such as running and jumping at a high intensity. In addition, aerobic capacity may be lower in people with PWS, reducing the time for which aerobic exercises can be comfortably maintained. Care should therefore be taken to begin training programs at a light intensity, and built up according to personal progress.

Suggested conversations for a trainer, parent and person with PWS when developing an exercise plan

Personal trainers and gyms can be a great asset in planning and implementing any fitness plan. Communication is the most important aspect of creating an individualised training program for a person who has PWS. Everyone has different abilities and enjoys different things, so having a mutual understanding of this can improve the experience. For any items of medical concern, the person's doctor may also need to be consulted.

We recommend the trainer or gym, the person who has PWS and their parent or carer discuss the questions below to ensure the program is designed in a way that best suits the individual and that there is transparency in the complex needs of the person with PWS:

  • What PWS symptoms should I be aware of?
  • Is task-switching an issue? If so, are there any techniques you have found useful for this?
  • What kind of activities does the person enjoy most?
  • Are there any kinds of activities that the person finds particularly difficult
  • Are there certain times of the day when the person tends to be happiest or more readily engaged?
  • Is there anything in particular that calms the person down if they become distressed?
  • What techniques do you find most useful in giving instructions?
  • Is routine favoured over variety? As the person progresses and improves with training, what is the best way to introduce changes to the training program?
  • What are the benefits of exercise you'd most like to see? (e.g. weight loss, weight maintenance, strength building, improved muscle tone, social benefits etc).

How can exercise programs be designed to be accessible and enjoyable for people with PWS?

It is important to gain an understanding of common difficulties faced by people with PWS. Starting slowly and gently can be an effective way to engage a person with PWS in physical exercise. Intensity of exercise can then slowly be increased as muscle tone, confidence and enjoyment builds. Everyone has different interests, so communicating with the person on which activities they enjoy most can encourage enthusiasm.

People with PWS may have difficulty adapting to change or following complex instructions. Exercise training programs should aim to be well-defined, easy to accomplish (as per individual abilities) and broken down into small steps. For some people who have PWS, it may be beneficial to follow a planned routine they can become familiar and comfortable with, which further minimises the stress related to anticipation. However, it is also important to be flexible and willing to adapt.

Incorporating strength training and aerobic exercises with games can be helpful in engaging children with PWS. Throwing, catching, skipping and dancing within or between exercises can be a simple way of keeping things entertaining.

Devising a training program that suits the individual abilities and interests of the person is the best way to build confidence and therefore decrease any aversion to exercise. Showing patience and enthusiasm while explaining exercises in a clear and simple step-by-step manner can make activities less stressful. Active communication and mutual respect between the person who has PWS, the parent and trainer is an important aspect of achieving this.

This post was written by four University of Melbourne science communication students, Jessica, Jinia, Elena and Frances. Each is a Masters-level research active science student and undertook this work under the guidance of their course coordinator Dr Jenny Martin and our volunteer director of science communication Melanie Carew. You can read more about the University of Melbourne Science Communication subject here.

Global Prader-Willi syndrome registry update

The Global Prader-Willi syndrome registry now has ~800 participants who complete (or have a parent/guardian complete) a series of 37 web-based surveys covering medical history, developmental history, behaviour, mental health, medications and quality of life. Registries are an incredibly important resource for researchers and clinicians to better understand Prader-Willi. Researchers provided an update on the progress of the Global Registry at the 2016 IPWSO conference which you can read below. Our thanks to IPWSO for allowing us to share these abstracts.

PWRFA is working to establish an Australian registry in collaboration with the Foundation for Prader-Willi Research and PWSAA, to enable better understanding of the challenges facing Australians living with Prader-Willi.

Videogame in development to assist with task switching in kids with Prader-Willi

Task switching can be difficult for some children with Prader-Willi and can sometimes be a trigger for temper outbursts. Irish researchers have been collaborating with children who have Prader-Willi syndrome to develop a videogame TASTER which trains the ability to task switch. At the recent 2016 IPWSO conference, the researchers reported positive results in a small group of 4 children with PWS who used the game.

You can sign up to take part in the research (involves playing the game and completing a questionnaire), or download the game to try at

This research is funded by the Foundation for Prader-Willi Research and was recently presented at the 2016 IPWSO conference. Our thanks go to IPWSO for their permission to share this abstract.





Energy expenditure, physical activity and maximal oxygen uptake in adults with Prader-Willi syndrome

Research from Israel suggest aerobic capacity may be reduced in people who have Prader-Willi syndrome. The research tested 17 people with PWS and 32 age matched controls (who do not have PWS) for their maximum oxygen uptake during an exercise test on a treadmill. They found that people with PWS had significantly lower aerobic capacity, even if they reported exercising daily. This is important information as aerobic capacity refers to the ability to sustain aerobic activity like running over a period of time. The authors recommend taking this into account when tailoring personal training plans or designing clinical studies.

This research by authors Itai Gross and co, was presented at the July 2016 IPWSO conference. Our thanks to IPWSO for their permission to reproduce this abstract.


Scientific abstracts from 2016 IPWSO conference

This month international scientists and multidisciplinary professionals working on Prader-Willi syndrome gathered at the 2016 International Prader-Willi Syndrome Organisation (IPWSO) conference in Toronto. 

All scientific abstracts from the conference are available for download here. 

Our thanks go to the IPWSO and conference hosts the Foundation for Prader-Willi Research Canada for allowing us to share these. We wish too to acknowledge all the hard work and commitment of the many people involved in making this international forum a success. Well done to all!

"I want to share my experiences so people can understand"

"A lot of people who have Prader-Willi syndrome do not feel comfortable talking about it, but I want to share my experiences so people can understand. People should never judge a book by its cover, but instead get to know the person on the inside." - That's Kate Tower, author of the article Growing up with a syndrome that causes insatiable hunger" available at The Mighty.

You can read the full article at

Focus on: Cognition and Prader-Willi syndrome

Guest post by Karra Harrington, BAppSc(Psych) (Hons), MPsych(Clinical), currently PhD student at Florey Institute of Neuroscience and Mental Health and the Cooperative Research Centre for Mental Health.

Why is cognitive testing for children with Prader-Willi syndrome important?

The majority of children with PWS have learning disabilities and difficulties with specific thinking skills, like language or memory. Many may also score in the mild to borderline ranges on IQ testing, showing low results on tests of intellectual functioning (e.g. solving puzzles or knowing about words).

Importantly, even when performing at expected levels on intellectual testing, specific difficulties with learning and thinking skills often still develop for these children. Limitations with social skills and managing emotions are also part of the syndrome and may make it more difficult for the child to learn and develop their thinking skills, particularly as much of school learning is socially based.

What's the difference between a cognitive assessment and an IQ test?

IQ tests involve a series of tasks that are used to determine an individual's intelligence quotient, which is a number representing that individual's general reasoning ability relative to others their same age. These tasks usually involve tests of verbal and visual reasoning, working memory, and processing speed. An individual's IQ tends to remain relatively stable across their life despite new learning and experiences, and for children can be a useful indicator of their general reasoning abilities relative to peers their same age.

In contrast, a cognitive assessment measures specific areas of brain function or thinking skills. This may include, but is not limited to, tests of motor skills, perception, attention and concentration, planning and problem solving, as well as considering aspects of behaviour. A cognitive assessment may not result in a numeric score but will often identify specific strengths and weaknesses for the individual in terms of their thinking and behaviour. Importantly, cognitive function does change over time, particularly for children as they grow and develop.

What is involved in a cognitive assessment?

Cognitive assessments are typically conducted by a psychologist with specialist training, such as a neuropsychologist or an educational and developmental psychologist. An assessment often takes several hours and may be conducted over multiple sessions to ensure the comfort of the child and accuracy of the testing. Tasks may be in verbal, visual, or written formats depending on the child's age and abilities. Often tasks involve activities such as puzzles, playing with blocks, drawing pictures, reading or writing. Following the assessment, usually the psychologist will meet with parents or guardians to discuss results of the assessment and answer any questions, as well as to provide specific strategies to assist the child at home and school based on the results. A written report detailing this information will also typically be provided.

Why should children with Prader-Willi syndrome undergo cognitive assessments?

Cognitive assessments provide a means to determine the specific difficulties each child has, as well as their specific strengths. Prader-Willi is a syndrome, meaning that each person is affected differently, so knowing this information is vital and will enable the development of an individualised plan to assist the child to help reach their maximum potential.

Although specific difficulties will vary between children, the most common skills affected are:Short-term memory (the ability to keep new information in mind over a short time)

  • Sequential processing (the ability to process pieces of visual or auditory information in a specific order)
  • Receptive and expressive language (the ability to understand and use language to communicate both written and verbally)
  • Self-monitoring (the ability to keep track of what you're doing and recognise mistakes).

Children with difficulties in these areas may have trouble following the meaning of a sentence or story when reading or being read to, following a series of instructions, or understanding the concept of later. Additionally, children may be quick to answer 'I don't know' to questions or use very generic language, and may not notice when they make mistakes or miss a step in a task. However, children with PWS will also have relative strengths that can be used to assist them to overcome these difficulties. For example, children with PWS often do better when information is provided visually rather than verbally, and understand concrete concepts (e.g. the meaning of a word) better than more abstract ones (e.g. synonyms of a word).

Is there anything I can do to help build my child's cognitive ability?

Due to the range of difficulties experienced by children with PWS, strategic to build or support their cognitive ability need to be tailored to the individual in order to be most effective. The strengths of the child should be emphasised and can be used to assist with overcoming some of the difficulties. The following strategies may be generally helpful to assist with the more commonly expressed difficulties:

  • Break information or instructions down in to small chunks and only give them to the child one or two at a time, instead of a whole list.
  • Provide visual aids for information presented e.g. write down a checklist, provide pictures as well as words.
  • Repeat instructions or information as often as necessary, and encourage the child to ask for repetition or help rather than saying 'I don't know' or giving up on a task.
  • Check that they understand and explain further if required.
  • Avoid using idioms or figurative language (e.g. say 'keep quiet' rather than 'put a lid on it').

Children with PWS also often experience a range of social and emotional difficulties which may limit their ability to reach their cognitive and academic potential if not addressed. It is therefore important that children are supported and given opportunities to develop social and emotional skills, as well as academic skill. Support should be provided in a consistent and routine manner across the different settings the child is in (e.g home, school etc). Routine and consistency will help minimise anxiety and stress for the child by allowing them to build an understanding of what is expected both of themselves and those around them.