DESCRIPTION OF PRADER-WILLI SYNDROME

by The Prader-Willi Syndrome Association

Pregnancy and after

Every pregnancy is individual, but the foetal movements of a baby with PWS are often much weaker than those of a "normal" baby (not, of course, easy to recognise in the case of a first pregnancy). About a quarter are carried and delivered in the breech position and, while likely to be full term, are frequently of low birth weight.

The new born baby with PWS is usually small, weak and floppy, with a feeble cry and poor or no suck. Reflexes usually present at birth may not appear until later. Physical features may include narrow face, almond shaped eyes, small mouth, feet and hands, fair skin and hair and small genitalia (more apparent in male babies). A new born with PWS in an incubator.

It is not unusual for these babies to begin life in an Special Baby Care Unit and because of the poor muscle tone (floppiness), and accompanying poor suck, there are usually feeding problems for the first few weeks or months of life. Tube feeding is common and successful breast feeding unlikely. These problems eventually resolve themselves to the extent that the infants can feed, although their suck will remain relatively weak and feeding times may be prolongued. To begin with, the baby may be so weak that it will need to be woken for feeds.

Gradually, during the first year of life, the degree of floppiness reduces and motor functions begin to improve, although they are likely to remain delayed or weak. Most, if not all, infants with PWS will sit, stand and walk late. The weak muscle tone, which caused problems with feeding, is likely to cause later problems with speech and early consultation with a speech therapist is recommended.

People with PWS have specific learning difficulties, with a wide range of IQs between individuals. Whilst 70 is the average for people with PWS, some have severe learning difficulties and others have IQs approaching 100. Most are better with concrete, rather than abstract, concepts and have strengths in areas such as jigsaw puzzles and wordsearch type puzzles.

The early years of life are crucial periods for the development of intellectual function in all children and this is equally true for those children with PWS. They are already handicapped by their poor physical skills, and their ability to explore their environment is reduced by their delay in learning to sit, crawl and walk. They benefit greatly from early intervention from such professionals as Portage visitors and from as much stimulation as possible in their environment.

The first year or so of life may be a period when the infant with PWS is slow to put on weight and, if PWS has not been diagnosed, there may be considerable anxiety associated with this "failure to thrive". Then, usually between the ages of two to four years, their appetite increases dramatically and they consume everything that is put in front of them. The temptation for the now happy parents is to be so pleased with this change that they put a great deal in front of them. This is the beginning of the second phase of PWS and the beginning of a life long problem.

The early years

Some time between the ages of one and four years, the child with PWS begins to show a much increased interest in food and, in severe cases, develops what appears to be an insatiable appetite, so that he or she will try to obtain food by any means possible. If you're not expecting it, weight can suddenly seem to appear from no-where This preoccupation with food is a lifelong problem, but in many cases can be considerably lessened by good management and strict dietary control. If diet is not carefully monitored, weight gain is rapid. This weight gain is not due to just excessive food intake, but also to the need for fewer calories than the norm merely to maintain an acceptable weight. This is one of the cruel conundrums of PWS - the combination of a seemingly insatiable appetite and a reduced biological need for food.

In many ways, food becomes central to their lives: they enjoy thinking about it, talking about it, looking at it, preparing it, and, most of all, eating it. Those families for whom diagnosis occurs at an early age are relatively fortunate, for it is easier to impose a sensible diet on a toddler and young child with PWS. This really is a situation where saying "No" is in the very best interests of the child.

It is important that parents and other carers realise that the child with PWS requires fewer calories than the calorie intake of a normal child in order to maintain weight and growth; this is because the child's poor muscle tone does not enable them to "burn up" calories as fast as other children, so that exercise to improve muscle tone is very important. It also appears that people with PWS lack the physical and chemical messages which tell the "normal" person they have had enough to eat. Other means of deciding on a sensible portion size need to be taught, for example the visual size of a meal on the plate. However, it is essential that the child is weighed and measured every six months at least, so that adjustments can be made, if necessary, to the daily food requirements.

This is often a period dominated by the professionals involved with your child: paediatricians, health visitors, portage workers, physiotherapists, psychologists, speech therapists, dentists, opticians, and, of course, dieticians are only some of the people likely to be involved in the care of your child. This is also a period when educational intervention should be seriously considered: cognitive, physical and other developmental delays need to be addressed and remedial action taken.

Many children with PWS will start to display a degree of stubbornness frequently associated with food issues during this time. It is helpful if parents find out as much as they can about the possible problems which will arise during the following years and discuss with themselves and others how they are going to try to deal with them. But, fortunately, young children with PWS are generally placid, cheerful and affectionate individuals, easy to love and enjoy.

Primary school

Many children with PWS start their formal education in mainstream primary, with varying degrees of support. Others will begin their education in special needs schools - most often schools for those with moderate learning difficulties (MLD); less frequently for those with severe learning difficulties (SLD); and occasionally in schools for children with speech and language disorders or for those with physical disabilities.

As a general recommendation, no matter what the ability of the child appears to be, a Statement of Educational Needs (Record of Needs, in Scotland), should be carried out for the child. This will ensure that the child is being monitored throughout his or her school life, and that any changes in educational needs, particularly later at secondary level, can be carried out more smoothly.

During the primary years, the problems associated with PWS which are not related to food begin to assume greater importance. Problems which may begin to appear include perseveration, temper tantrums, obsessive and compulsive behaviour, stubbornness, rigidity, skin picking, and a tendency to be shorter in height when compared to other family members. Growth hormone deficiency can often be demonstrated and referral to an endocrinologist should be considered if growth rate falls or height is below the third percentile. Growth hormone replacement helps to normalise the height with worthwhile social benefits; it also increases lean body mass and both of these help with weight management.

Many children have poor auditory processing and such a child may have difficulty in carrying out verbal instruction, or may be unable to cope with too many sequenced instructions at once. Visual aids and cues to learning should therefore be used as much as possible. Many children with PWS will repeat a question over and over again (perseveration), or request reassurance about when something is going to happen (often, this will be, "When is lunch time?"). Generally speaking, children should be reassured about times etc, but given a limit as to how long they can go on repeating the question. Teachers may in fact find that if they ask the question back, the answer is known.

Children with PWS tend to think in a very rigid and orderly way. They find it extremely difficult to cope with ambiguity and change to routine and as they get older may react to these situations with tantrums. Strategies for coping with changes in routine, as well as being helped to make simple choices should be taught from an early age.

Poor short term memory means that the child may appear to have learned a topic one day, only to have forgotten it the next. Repeated revision and consolidation is necessary to ensure that topics are fully grasped.

All of these difficulties can be very demanding of the classroom teacher, who may be hard-pressed to spend so much time and attention on a single child. Lack of attention may lead children with PWS to struggle and fall behind and to become frustrated, leading to further demands for attention and to more tantrums. It is very easy for the classroom situation to become untenable.

However, most children with PWS are more receptive and able to make progress if they can have one to one attention. Many find it difficult to work in groups, and may need extra support and guidance in group situations. The existence of a Statement of Educational Needs increases the probability that such help may be made available.

But, of course, food is still the primary concern. Many families have to face up to the fact that their otherwise delightful child will steal both from the family and local shops in order to acquire food and will lie blatantly about having done so. This can be very upsetting, but it is important to remember that you are not alone.

And many practices and customs in primary schools can prove extremely difficult or distressing for the child with PWS: school parties, at which copious quantities of cakes and similar food are consumed; the practice of a birthday child presenting others in the class with a sweet or bar of chocolate; birthday parties, with their emphasis on food and the farewell "goodie bag" to go home with; and the near certainty that every other child in the class will bring a bag of crisps and possibly a bar of chocolate for break, not just a tiny apple. All of these are issues that need to be faced up to and dealt with.

The primary years are also a period when children move from playing alongside one another, largely independently, to playing with one another. Social skills and social interaction are increasingly acquired during these years. But social skills are learned, and the learning disabled child learns inadequately or not at all. Many children with PWS seem to socialise with adults very confidently and easily - they are often cheerful and loveable - but are increasingly isolated from their peers. Their inability to make or react to friendship overtures, their stubbornness, their often strange behaviour, their sometimes frightening tantrums, and just their sheer different-ness may lead to this isolation from other children. For some children this can be a period of increasing loneliness if the help and support of both parents and professionals is not adequate.

The teenage years

Puberty is usually delayed or diminished in people with PWS of both sexes. Treatment with replacement sex hormones can produce adequate secondary sexual characteristics including the onset of periods in females, but such treatment is a little controversial because of the possible correlation between testosterone treatment and behaviour problems in males and the role of oestrogen replacement and the risk of strokes in females.

Scoliosis can occur at any age, but the risk is increased with the onset of puberty, or with growth hormone treatment, and it is even more important to check for it during these years.

Some children with PWS have successfully transferred to mainstream secondary school, but others have found this a difficult step to take, and careful planning needs to be carried out to ensure success. But perhaps even more important than the type of school (private, mainstream secondary, special, or residential) is the quality of the school itself. A school which has a supportive staff, a calm and peaceful atmosphere, with little or no bullying always dealt with promptly, and an ethos that values every individual not just the high flyers and the successful, will be a good choice whatever its type.

So many new issues have to be discussed with the school:

• will the child who may have poor self-control around food have easy access to "self-service" style catering, tuckshop, and other pupils school bags and lunch boxes?
• does the journey to and from school offer tempting opportunities for obtaining food from shops and cafes?
• how will the child cope with Food Technology - old fashioned Cookery?
• will workshops or laboratories prove a danger or a distraction?
• will there be adequate support as subjects become more abstract and difficult?
• is sex education handled in a sympathetic way?
• is there a degree of privacy in the changing rooms, particularly for boys whose physical development is more noticeably different from their peers?
• how will the inevitable name calling etc be dealt with (few if any young people with PWS manage to escape at least some very hurtful name calling)?
• How is the young person with PWS helped to make friends and integrate into their tutor group - does the school make any effort to teach social skills?

And, of course, all the old problems are still there and may be getting worse as the developmental gap between the person with PWS and his or her peers increases.

The early teenage years are a period for boys when it is important to be able to participate with some degree of competence in team games. To be a liability in a team, means not merely being ignored but being positively unwanted. Being overweight, having poor muscle tone, and lacking of co-ordination all point towards the young male with PWS being unwanted. The situation for girls is less serious, but they too will be expected to take part in team games at school and this is too easily another opportunity for them to fail. Consideration should be given to practising and practising ball skills so that at least a minimal level of competence is achieved.

Young teenage girls can be very spiteful and are frequently changing allegiances but the importance for them of having a "best friend" cannot be exaggerated. The social skills deficiencies mentioned earlier become even more important, and pressure should be put upon the school to introduce some social skills training.

The adult with PWS

When the person with PWS leaves school, a host of new challenges confront the family:

• Is there suitable employment which can be found?
• If not, how will the young person occupy their day?
• As their "normal" peers leave home to live independently, what can the young person with PWS realistically consider?
• Is there that special girlfriend or boyfriend out there for them and how do they meet that person?
• How can the family begin to treat the, now young adult, in an age appropriate way and yet still provide the care and protection (and the limits) that he or she needs?
• Will the person with PWS be able to make friends with people outside the family?

And as always, all the other problems, especially those relating to food, are still present.

For many families, the answer is for the young person with PWS to continue in full-time education of some description. As a person with special needs, they are legally entitled to free education to the age of 25 and so long as suitable courses can be found many take advantage of them.

For others, some form of residential accommodation provides both the semi-independence which the young person wants, the constraints which they need, and some relief for the family. Particular attention needs to be paid to the choice of residential accommodation, however, for if the constraints are inadequate the placement could be a severe health hazard. The PWSA(UK) has produced a document, Beyond the Veneer, which provides guidelines for making such a choice (This is also available as a hard copy from the PWSA(UK) office for a small fee).

Of course, many young people with PWS continue to live in their family home.

PWS is a relatively recent condition (1956), not that the condition itself is new but the naming of it and the recognising of the characteristic symptoms and behaviours which accompany it are, being first identified by Prader, Willi and Labhart. It has only been with the identification of the syndrome that research into it has been possible, and, following that research, approaches to moderating the problems successfully tried. With those successes, the life expectancy of people with PWS has increased but there are still few known over the age of 40 and it is difficult therefore to talk authoritatively about Adults with PWS.

However, the PWSA(UK) has produced a 20 000+ word booklet, A Handbook for Parents and Carers of Adults with PWS, containing a mixture of formal information for and about adults with PWS, and photographs and anecdotes about real people (This is also available in hardcopy for a small charge).

Living with someone with PWS

Bringing up a child is a demanding task; doing so when that child is physically handicapped or learning disabled is so much more demanding and can cause a great deal of stress within the family.

The attention lavished on the disabled child can leave other family members feeling ignored, left out, unloved even, and resentful of the disabled child. The amount of time spent with the various medical, educational, and other service industries trying to achieve the best for the disabled child, may leave very little time for other family members.

There may be many problems with the child with PWS - physical, dietary, and behavioural - and this can be a cause of friction between parents unless they are in close agreement about the management of their child. People with PWS can become easily confused, anxious and upset. They find it very difficult to change direction when they are set on a particular path of thought or action, and they may exhibit their confusion, frustration and anger by having "temper tantrums". If the parents adopt different practices, this may well confuse the person with PWS. Alternatively, if the person with PWS is able to accept that each parent is different, he or she may well use the difference of opinion between their parents in a manipulative way to achieve their ends.

Eating together can be one of the more enjoyable pleasures of family life, particularly as children become adults. However, the emphasis on food, or lack of same, which is part of the daily life of someone with PWS, can easily make such times a source of conflict. There can be few families with a person with PWS, for whom that person's presence has not altered the family's dietary lifestyle. Even in families where the person with PWS is expected to accept a diet different to that of other family members, it is inevitable that there are fewer sweets, cakes, biscuits, etc, in the house than would otherwise be the case. While it may be possible for adult members to accept this, it can be very difficult for young siblings of the person with PWS, who see their own peers stuffing themselves with junk food, sweets and other desirable, high-calorie foodstuffs.

Life for the brother or sister of a disabled child can be very unsettling. Inevitably, and for the best of reasons, they are frequently expected to take extra responsibility for their sibling and yet see their lifestyle curtailed because of him or her. As the brother or sister approaches the teenage years, it is common for them to be acutely embarrassed by their disabled and oddly behaving sibling. This can lead to feelings of guilt, anger, frustration and confusion about their relationship with that sibling. If they see themselves as largely being ignored by their parents, because of that disabled child, and yet understand the need that for the attention that has to be paid to him or her, then feelings of guilt and resentment may confuse and worry them.

When there are other children in the family it is important that parents remember that they have needs too. They need time, attention, understanding, and they need to be kept informed.