Behaviour in PWS - where? What? Why?

by Linda Thornton

In .52 of a second, Google furnished me with a choice of 158,000 articles on behaviour in Prader-Willi syndrome.  It is overwhelming and if I were a new parent, I would not know where to start.  In fact, I probably would yell at Google, close the page and burst into tears.  There are scholarly articles, there are profiles of behaviours, advice on managing behaviours of pre-schoolers, toddlers, pre-teens, teens, adult and so on.  After 20 pages of Google and in amongst all the PWS articles,  suddenly I find a page on growing marijuana and by this stage, I’m thinking “what a good idea!”

Personally, I think that finding a PWS Association either online or in reality, is the best possible thing to do.  To be able to talk to someone face to face, or on the phone, or even just an email, will result in a calmer, easier-to-understand answer than trying to assimilate information from 158,000 different articles.  That’s just frightening.

The best possible thing you can learn about behaviour and PWS is that children and adults are all different.  They are people first, and just happen to have Prader-Willi syndrome.  Knowing your child, what motivates them, what they love and who they love, what scares them, what makes them anxious, and so on, is the first step towards understanding behaviour.  When you stop and think about it, everything we do, from getting up in the morning to going to bed at night, invokes behaviour of some kind or another.  Our behaviour sends messages to others in many different ways – no matter whether we have a disability or not.  It’s how we interact.  

I’ve watched the behaviour of my 32-year-old over the years and can read her like a book.  But I can also do this with my other children as well, the only difference is that my 32-year-old has more pages in her book.  That’s life.  Whether her behaviour is challenging, whether she’s testing whatever system that’s been put in place, or whether it's her every-day behaviour, for me the most interesting thing is how she interacts with other people.  I used to worry that she would ‘snap’ if someone said or did the wrong thing – and by this I mean a stranger, not someone she is familiar with because the more familiar she is with someone, the more likely she is to let loose! 

The other day, for example, I listened to her on the phone to her bank.  She was polite, very clear in her request to transfer funds and knew exactly what she was talking about.  She quickly and efficiently changed one automatic payment into another.  No problem at all.

I’ve heard her ring and make a doctor’s appointment; phone the library and request a particular book; she manages a visit to the Vet with her cat perfectly well and asks all the right questions and makes sure she knows the answers.  In an emergency (her concept of one) she will get herself down to the Emergency Department at the local hospital (with a staff person) and wait until she can be seen.  She knows when she is ill (see previous blog on gastroenteritis).  By being able to do these things she avoids becoming anxious, frustrated, and angry.  It has become so clear to me over the years that by first teaching her about making good choices, she is able to do so much more for herself.

Sometimes, in the middle of a catastrophic outburst I tend to forget everything I’ve just said above and feel as though I’m clinging to the life-raft for all I’m worth.  Just getting through to the other side of the meltdown is all I’m hoping for at this stage!  I hate it when these happen because I know how terrible it is both for her, and for the person she is focussed on.

I began to wonder what sort of chemical imbalance might be in place when these meltdowns got under way.  So I asked Tony Holland about this and about his research with vagus nerve stimulation.  He responded,

"Our work on vagus nerve stimulation suggested that people with PWS essentially have a a low threshold for such outbursts and also impaired emotional control - in other words people with PWS are easily triggered and once it starts such an outburst more easily builds up and leads to loss of control when compared to people without PWS. This appears to be improved by vagus nerve stimulation. The vagus nerve is part of the autonomic nervous system of the body that manages our response to threat - what we think vagus nerve stimulation is doing is normalising that response. The other rather different issue we are beginning to look at are two chemical (neurotransmitter) systems in the brain - GABA and glutamate - the former is inhibitory and the latter, excitatory. It may be that an imbalance of these two systems is important - a new study we are starting uses brain imaging to explore this hypothesis"

So, although I know that there is much behavioural research going on with Oxytocin* (Google: 1.10 seconds, 115,000 articles) and the Vagus nerve stimulation** (Google:  .72 of a second, 60,600 articles), I can’t help but think that deep down it pays to really understand your child and what makes them tick.  You may be surprised.

 (If you would like help with behaviour issues and would like to talk to our specialists about this, please email us)

*Maithé Tauber Oxytocin research

**Tony Holland Vagus Nerve Stimulation

Living and Working with Prader-Willi Syndrome

Submitted by Jackie Waters (UK)

It is one of life’s little ironies that before Prader-Willi syndrome (PWS) came into my life I was a very picky eater, and with such a small appetite that I was very underweight until after both my children had been born.

My first child was a daughter, Esther, born in 1978 by Caesarean section. It was immediately clear that something was amiss. She was very floppy and could not suck. I stayed with her in hospital for a month while they carried out tests. Down syndrome, cerebral palsy and some sort of muscle problem were all ruled out, so we were discharged from hospital with a catch-all diagnosis of “failure to thrive”.

And it was another of life’s little ironies that, for the first few months of her life, Esther was very difficult to feed. She didn’t cry and slept a good deal. We had to set the alarm to feed her, using a spoon or squeezing a bottle, to try and get even a small amount of milk into her mouth. Once she went onto more solid food, she began to pick up, and I had every hope that her initial set-backs were in the past. Her muscle tone gradually improved, but remained weak, so that she did not walk until 19 months old – quite early, I now know, for children with PWS.

What was a little strange about my adorable little daughter was that she would eat anything I put in front of her. Strange because of my own fastidiousness around food and because most little children will not eat something like cold cabbage – which a macrobiotic friend we were staying with when Esther was about three years old had presented us with for breakfast. Esther ate it with relish.

Then, around the age of four years old, she began to put on weight. Strange again. I tended to give her small portions of food which reflected my own small appetite, so why was she putting on weight?

We had been seeing paediatricians every six months or so, who were mostly happy with her progress, apart from her speech and language which was almost non-existent, though she did communicate through signs and noises and it was clear her comprehension was relatively good. When she was nearly five, and the weight gain was becoming increasingly obvious, my world was turned upside down when what was to be a routine visit to the paediatrician turned out to be the day Esther was finally diagnosed.

“I think I know what is the problem”, he announced. “I think she has Prader-Willi syndrome.” He showed me some pictures of children in a medical book and yes, Esther looked uncannily like them. He said he would send off a blood sample for a genetic test for confirmation, but even when it came back negative, I knew in my heart of hearts that this was what she had. At that time, genetic tests for PWS were in their infancy; a further test when she was 16 subsequently found the tiny genetic abnormality. The paediatrician said Esther was only the second child he had ever diagnosed with the syndrome and he could not tell me a lot about it, apart from cutting down on sweets, biscuits, cakes etc.

This of course was in the days before the internet and any type of information was very hard to come by. The nurse at the paediatric clinic gave me the address of the fledgling PWS Association, which had been set up just a couple of years previously, and was run in their spare time by a couple whose child had also received the diagnosis. The only information they were able to send me was a booklet from the USA, where the world’s first PWS Association had been set up in 1978 – the year of Esther’s birth. From that I learned that the syndrome got its name from Swiss doctors, Prof Prader and Dr Willi (along with a Dr Labhart whose name got dropped somewhere along the way) who had first described the syndrome in 1956.

Dr Andrea Prader with Jean Phillips-Martinsson (UK)

Much of the booklet was quite horrifying, and I found there were parts of it I could not look at for long. According to this, my angelic little girl was going to change into a ravening monster, who ate everything in her path, and alongside of that would have severe outbursts of temper and rage. What was more, she would never develop to maturity sexually, would not have children and would be shorter than average. How could this possibly happen?

It happens, I now know, because the genetic abnormality in PWS affects the hypothalamus area of the brain. This in turn controls a number of hormones which affect appetite, growth, sleep and emotions.

I vowed that I would do everything I could to help my daughter overcome this nightmare. I joined the PWSA UK, went to its meetings and conferences, and in 1987, three years after my son was born with no problems, joined the Trustee Board.

At that time, little was known about the life path of adults with PWS – the received wisdom was that the weight would continue to pile on and few people lived past 30. I suggested that I could carry out a survey of those parents we were in contact who had adult sons and daughters with PWS. A psychiatrist from Birmingham, Dr David Clarke, became interested in what I was doing, and the results were ultimately published[i] in 1989.

And so I became by default the Information Officer for PWSA UK, working in a voluntary capacity until 1991 and then as a paid employee, sometimes part time and sometimes full time. My current role is Support Team Manager. Our support team helps families and people with PWS get the support and care they need, answers their queries about every aspect of life with PWS, and training professional care staff. I am still responsible for writing much of the Association’s literature, most of which is on the Association’s website.

So what have I learned in my 39 years living and working with PWS?

I have learned that PWS is an incredibly complex condition which affects only around 2000 people in the UK. It can unfortunately happen in any family, as 95% of cases are “de novo” – ie newly occurring. Fortunately it is rarely hereditary. The genetics are a continuing source of interest to experts in the field, as is a finding a “cure” for the excessive appetite (hyperphagia). We now know, through MRI scans of the brain, that messages from the stomach to the brain, telling it that enough has been eaten, are not fully reaching the brain, resulting in a state of almost perpetual hunger. The low muscle tone (hypotonia) which continues throughout life imposes a “double whammy” on people with PWS: they actually need fewer calories than people of the same age and height to maintain a healthy weight –the reason my daughter began to put on weight when she was a child. Not because I was giving her too much, but because she her calorific requirements were far less than for other children.

The struggle to keep calories down, together with the individual with PWS’s search for food to assuage their hunger, makes it a very difficult syndrome to live with. Not only this, but immature social and emotional development means that even those who would otherwise intellectually be able to cope (although most have learning disabilities, a significant minority do not) are not able to manage the stresses and complexities of everyday life, often resulting in outbursts of temper which sometimes result in physical aggression. There are a range of other behavioural challenges, so distinct to PWS that psychiatrists describe them as a “behavioural phenotype”.

For most families with young children who can manage their child’s diet, PWS does not impact all of the time – the outbursts may not be that often, or relatively easy to deal with. This was certainly the case for me, and Esther was, certainly as a younger woman, very good at keeping to her dietary

regime – with support from me. However, as people with PWS grow older, independence becomes a big issue. Left to themselves, in almost all cases, the person would continue to eat until all the health problems which go alongside obesity overcome them. Sadly we still hear of people dying in their 20s and 30s, although the oldest person known to have the syndrome was 74 when she died. Only a handful, though, currently make it past 60 years old.

In order to manage the difficulties of the syndrome, a few specialist residential homes have sprung up where access to food is very restricted and where staff are trained to deal with the challenging behaviours that some people have. Esther’s story is a complex one, and not all of it is to do with PWS, but she currently is doing well in a residential home where she has lived for over two years now, having lost around 4 stones in weight.

PWS has changed my life. It was never on my career agenda (who indeed would want it to be?), but it has taught me so much. I have learned not to be judgemental of people who are obese and I have met people from all walks of life and from all over the world. In my work as a past board member of the International PWS Organisation (IPWSO) www.ipwso.org I travelled to countries as far apart in culture and space as Norway and Taiwan, but in every country, the children and adults with PWS face the same challenges. I am honoured to have been asked to be the representative for families and people with PWS in the EASO Patient Council and look forward very much to meeting other members of the Council at the upcoming Congress in Portugal in May.[i]

 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1291957/ – Adults with Prader-Willi Syndrome: abnormalities of sleep and behaviour.

Posted Jun 12 2017 by EASO Secretariat in News 

Tags: Prader-Willi Syndrome Categories: News

My name is Barbara Paruk...

My name is Barbara Paruk. I was born in Vienna in 1982, where my parents had emigrated to from Poland. Moments after being born in a clinic in Vienna I was placed into physiotherapy, as I had a complete muscular dystrophy. After 5 months of my life my family and I made a journey to start our new lives in Australia. Here I got lucky! Instantly I was placed in the care of a team of great doctors in the Westmead Children’s Hospital, Sydney. I needed to be placed into occupational therapy, physiotherapy and once I started to talk a little, speech therapy. Once I reached 3 years of age I had surgery to fix my crossed eye, resulting in more physiotherapy. I had to exercise every day both at the hospital therapies and at home, because my parents wouldn’t give up on me.  Although the exercises were a big part of my life it wasn’t the only thing I did. I always liked water so I learnt to swim before I was able to walk. My love of swimming is still with me till this day. In swim schools I’ve learnt all swimming styles and even today in water I feel like a fish. I’ve also liked drawing, colouring and puzzles and that also hasn’t changed much today. I’ve even have a few achievements in these fields as some of my works were awarded prizes. My latest work was creating graphics for a theatre play brochure, in which I also starred. 

I have finished Catholic primary school and high school, where the programs were tailored to my abilities. During the duration of my education I have finished multiple courses including: a computer course; cooking course; art course; a 6 month TAFE course. 

In year 2000 I left Australia with my family to live in Poland for 12 years. Luckily my luck didn’t leave me! There I found an active therapy workshop for disabled people. I had to quickly improve my Polish, learn how to move around a new city and adapt to a new lifestyle. Here I started my career as an actor. I signed up to a theatre where all actors, directors and all the other staff are all people mentally disabled like me. With this theatre troop I have performed all around the country as well as internationally. I have also travelled around Poland as a self-advocate helping people with mental disabilities adjust to their lives.

In 2012 I moved back from Poland and once again I had to fully re-adapt to my lifestyle. From multiple possible opportunities I chose to work in Civic Industries (supported employment), where I work till this day. My main jobs are sticking labels on products and packaging merchandise into boxes. Lately I’ve even tried my strengths in the reception and administration areas. Even though work is fulfilling I couldn’t stop acting. I have joined the theatre created by the Disability Trust and I really enjoy my choices. I’m a very social person and I love meeting new people, travelling and dancing. My favourite is combining it all when I go on cruises with mum for holidays.

Note from Barbara’s parents:

Barbara has been both a challenge and a driving factor from the start. With her you can’t be bored. She constantly has new ideas on how to spend free time. She uses her free time better than us, l constantly trying something new or trying to pick up a new hobby. Be it painting, drawing, embroidery or crafts, she has learnt all those skills by herself. They are not the only things she has learnt herself. She has taught herself to read in Polish, skate, ice-skate and ride a bike. We are proud of her achievement and are confident that ere are many more yet to come. 

Thank you so much for sharing your story, Barbara!

Greetings from Denmark

Mit navn er Jytte Helgogaard, og jeg bor i Danmark.

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My name is Jytte Helgogaard and I live in Denmark.

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My daughter Cecilie is 28 years old and was diagnosed with Prader-Willi Syndrome at the age of 8 months. She attended special schools during her childhood and youth, and she moved away from home when she was 20 years old. She moved to Solvang, a residential home for persons with PWS situated on a small island called Fejoe – 3 hours by car away from us and 1 hour by ferry away from the North of Germany. Here she lives together with 8 adults with PWS and she has her own apartment consisting of a living room, a bedroom, a bathroom and a tea kitchen with a total of about 60 square meters.  

                                   

(Picture: Solvang, Fejoe – the apartments)

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Besides the apartments, Solvang consists of a house with a big dining room where all the meals are served. Solvang also has its own stables with horses and a farm shop where some of the residents restore old items of furniture to be sold in the shop. Cecilie has her own horse in the stable and her daily life includes horse riding, caring for the horses and other work in the stable along with field work. Each year they all go to a special music festival, abroad, activity holidays as well as the PWS summer camp arranged by the Danish Association of PWS.

Once a month Cecilie visits us for a weekend. She goes by taxa thus she doesn’t have to travel by herself. That goes for holidays as well.

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Without doubt, the biggest challenges we have experienced during Cecilie’s life have been her school offers which haven’t been specifically aimed towards PWS. We have always had positive experiences with the health care system as well as with the social welfare system which have had a very good understanding of the specific problems and needs related to PWS.

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At Solvang Cecilie has a wonderful life doing things that interest her (horses). She is always happy, her weight is fine and she has an active social life with the persons she lives with.

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My piece of advice and recommendations for families with children and young persons with PWS will be that – when adult or about to move away from home – they should live in a residential home just for PWS. It is so important that people with PWS get the opportunity to live in a home with staff that has a thorough understanding of PWS including a daily structure, good and healthy day programs and last, but not least control of the food.