An A to Z of Prader-Willi Syndrome

Adolescence may be late, and difficult for families to cope with. It may also be a difficult time for the young person, as they see their peers developing physically and sexually and shooting up in height. Types of behaviour, which occur earlier in normal children, may appear even more inappropriate when they occur much later. Adolescence is also a time of greater freedom for the young person and this all too easily may include freedom of access to food, sweets etc.

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Adult Training Centres provide supported training and employment opportunities for people with learning disabilities. Some people with PWS may find Adult Training Centres rather limiting. Activities on offer vary considerably, and some centres are better at managing the dietary and behavioural needs of people with PWS than others. You therefore need to check them out thoroughly. Some of the activities which may be found include:

Job training and work experience
Basic education
Art & craft work
Home management, shopping and independent living skills
Leisure and recreation ( swimming, snooker, bowling,..)
P/T attendance at local colleges.

The special needs and nature of PWS needs to be explained fully to support staff.

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Age and the effect of it on the abilities and progress of people with PWS, has not been studied because, until relatively recently, life expectancy was limited, and few people with the syndrome were known over the age of 40. Abnormally high blood pressure and diabetes have been found to be the major health problems of older people with PWS, together with obesity, osteoporosis, restrictive lung disease, oedema and cellulitis. Strokes, heart diseases and cancer do not appear to be so common.

With greater awareness of the syndrome, older people with PWS are being recognised (a recent case of a British family on holiday in New Zealand led to the diagnosis of a 43 year old woman). Better dietary understanding and management mean that young people can now look forward to a more normal life span (recently, a person with PWS died at the age of 71). There is a general consensus that behavioural problems seem to settle down by the late 20s.

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Aggressive Behaviour is known in people with PWS, and when control is lost, it can be lost completely. Each person exhibiting it will need to be handled in a way which is appropriate for them. Sanctions - finding something that they dislike and threatening them with it - do seem to work. There is usually a reason for particular behaviour and if detailed records are kept, an intervention may be found which will modify it. On balance, people with PWS are volatile.

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Alcoholic Drinks have a high calorie content but some drinks are better than others. Clearly, lower alcohol drinks are likely to be a better bet than those with high alcohol content. Low alcohol wines are relatively palatable now and are also low in calories (typically 45 calories for a small glass). Spritzers of dry wine (or low alcohol wine) and mineral water or soda provide a longer drink for relatively few calories. Shandies can be made with diet lemonade (not easily available but, if the same pub is used regularly, the landlord may be persuaded to provide it) and this reduces the calorie content. Going to the pub' can be a very rewarding and helpful socialising experience for someone with PWS.

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Allowances for people with disabilities and their carers are an entitlement. However, given the nature of bureaucracy, there may be problems in initially obtaining allowances. Some parents get disability allowance, others are refused. The PWSA(UK) can help families with information and to fill in forms and to lodge appeals. It is important to claim all those allowances to which the person with PWS or their carer is entitled, since these can help to validate the need for services later.

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Ambitions are just as natural in people with PWS as in the rest of the population. But those who have PWS need counselling and support to realise that some of their ambitions may be unrealistic. For instance, a person who wishes to become a vet could be gradually persuaded that helping out at the local animal rescue centre is just as important; for others, the idea of marriage may require a great deal of support and advice from social workers, parents, and carers, and may not be the romantic ideal which they think it is; many will have to realise that having children will automatically accompany adulthood or follow marriage.

The situation is not helped by well-meaning people encouraging them to believe that they can achieve anything they want. All people have their dreams; those who have Prader-Willi syndrome have to face a life in which these dreams will less rarely become reality than the dreams of others, and that there are not many, appropriate, alternatives on offer.

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Anaesthetics may cause excessive drowsiness afterwards. In the event of an operation being necessary, it is important to inform the anaesthetist that the patient has PWS so that they can consult the literature.

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Angelman Syndrome might be considered as a sister syndrome to PWS, caused as it is, by abnormalities in the maternal 15th chromosome rather than the paternal. There are a number of on-line sites providing information about Angelman Syndrome. It would appear that people with AS also have poor temperature control and, particularly as young children, may show a craving for food and eat copiously while remaining thin and wiry!

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Sleep Apnoea is cessation of breathing for short periods whilst asleep. Sleep studies have suggested that this is relatively mild in people with PWS mostly in the form of snoring, although it may become more severe with weight gain.

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Appetite Suppressants appear not to work with PWS. However, there is a vast amount of research being undertaken in the developed world to deal with the increasing obesity in the general population, and one can but hope.

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Appointee is the DHSS term for someone who takes responsibility for another person, and receives benefits on their behalf. It may be necessary for someone to act as appointee for a person with PWS, so that they do not have access to the money from their Disabled Living Allowance or Social Security, which they might then spend on food.

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Approach - the Multidisciplinary Team approach to the management of PWS is to be recommended but it is rarely available.

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Bed-wetting may be prolonged because of the hypotonia and sleep problems in people with PWS. As when training a young child, try getting the person up in the middle of the night and making sure that they use the lavatory. The methods used by Azrin, Sheed and Foxx have been found to alleviate the problem to some degree.

Azrin, NH, Sheed, TJ and Foxx, RM. Dry Bed: a rapid method of eliminating bedwetting (enuresis) of the retarded - Behaviour Res. & Therapy, 11, 427-434.
Azrin, NH, Sheed, TJ, and Foxx, RM. Dry-Bed Training: rapid elimination of childhood enuresis. - Behaviour Res. & Therapy. 12, 147-156.

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Behaviour - People with PWS have some challenging behaviours which appear to be more common in the syndrome than in people with other learning difficulties. These include temper tantrums, skin picking, obsessiveness, perseveration and stubborness. The severity of challenging behaviours varies from one person to another. It is not known whether this is because of physical, organic or genetic differences, or because of better or worse behavioural management on the part of carers. Generally speaking, people with PWS need to maintain their self-esteem and can do this within a loving, but firm, environment.

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Birth may be the first sign that something is wrong. Pediatric Database reports:

Reduced foetal activity (76%)
Non-term delivery (41%)
Breech presentation (26%)
Gross motor development delay (98%)
Infantile hypotonia (94%)
Feeding problems +/- failure to thrive (93%)
Low birth weight - less than 2.27 kg (30%)
Almond shaped eyes (75%)
Hypogenitalism/hypogonadism (95%)

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Blood Circulation may often be poor and can be helped by massage.

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Body Thermostat may be poor and can often lead to the wearing of inappropriate clothing, which risks overheating or hypothermia. Some children find it very hard to cope when the weather is very hot or cold.

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Brain Research on the effect of PWS on the brain is taking place (Hammersmith Hospital), but progress is slow because of the difficulty in obtaining post-mortem brains. Donating the body of someone close to you for medical research may be more difficult than donating organs to save or improve a life, but brain research does offer the possibility of greater understanding of the neurology of PWS and the possible future alleviation of some of the symptoms. The PWSA(UK) has set up a brain donor database in collaboration with researchers and welcomes enquiries about brain donation. 1t is not thought that PWS can be cured by brain surgery at this time.

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Care can be a major problem in later life because of the difficulty of obtaining funding for the provision of appropriate care.

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Care In The Community may not necessarily be the right option for people with PWS, because of their difficulty in controlling their food intake. Most people with PWS need considerable help/supervision in controlling their diet. It can often be a problem with Social Service departments who may be more concerned with the short term rights of the person than their long term health.

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Care Orders for the adult with PWS, may in theory be possible but, in practice, unlikely to be obtained.

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Care Plans need to take account of the educational needs of the person with PWS.

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Case Conferences need to be approached seriously to obtain the appropriate provision of services for the person with PWS. If you feel intimidated at facing a panel of professionals you can always take someone to support you. Advice or help may be available from the PWSA(UK).

There is always the problem of injuring a child's self esteem on these occasions and, perhaps, a case for holding a preliminary meeting, at which the child is not present, which will give all concerned a chance to iron out any problems. [In one case a support group, consisting of the doctor involved with the case and the worker taking on the role of advocate, had been formed. They discussed the client's problem, and admitted that they did not realise how traumatic the situation was for him. They asked if they should go to meetings for him, in order to state his case. It would depend on him trusting them, and taking responsibility for other areas of his life, however. He was asked to keep his weight stable, and in fact lost a little weight, and his behaviour improved. Recently he was persuaded to attend a meeting, just to collect praise. He was uneasy at this, but the strategy did seem to be working].

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Change in routine can be very difficult for people with PWS. It often helps to give them advance warning of any change.

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Chewing is sometimes a difficulty because of poor muscle tone. This poor muscle tone in jaw and mouth can contribute to speech difficulties; giving the child lots of different consistencies to chew is a recommneded way of building up strength.

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Chromosome 15 abnormalities are the cause of PWS. These differences are difficult and lengthy to explain and are explored more fully in The Genetics of PWS.

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Chromosome Testing can confirm a clinical diagnosis of PWS but a negative test does not, necessarily, mean that the person does not have the syndrome.

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Clinics are desirable for an overall approach to Prader-Willi syndrome. Parents are aware of the benefits of special clinics, e.g. growth and multidisciplinary. The Children's Hospital at Birmingham and the Royal Hospital for Sick Children in Glasgow have been cited as good examples of this.

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Clothes - Inappropriate dressing can sometimes be a problem, perhaps because of a poor body thermostat or poorly acquired dress sense.

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College of Further Education courses for those with Special Needs are increasingly available, but these will need to be tailored to take account of the dietary constraints of the person with PWS; temptation could be removed, for example, if lunch boxes were kept locked away until needed. The learning disabled young person is entitled to free education until the age of 25. Residential education is a possibility but the rules for funding are more difficult. Further information can be obtained form the PWSA(UK).

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Communication problems are present for most people with PWS: problems with speech, perseveration, and of understanding. Young people with PWS may not be listening to what someone else is saying, concentrating instead on what they want to say. It is important to focus their attention. Speech therapy is about more than just articulation and should be considered for young people with PWS.

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Communicating the problem is essential. Telling the child about PWS should be done as early as possible, and acceptance of the condition part of everyday life. With older children, who have not been told, introduce the subject gently, possibly around membership of the Association and receipt of communications from it. All professionals dealing with the child (medical, educational and welfare) must be made aware of the condition. Good communication between parents and professionals is essential. An example was given of hospital staff being told that a child was to be kept on a low-calorie diet and totally ignoring this, because the child was quite slim. As a consequence the child gained several pounds during the hospital stay.

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Conferences are held annually, usually lasting for two days over a weekend in the autumn. Presenters include professionals working with people with PWS or carrying out research into the condition, parents, and people with PWS themselves. The venue moves around the country and during the last few years has been held in Windsor, Glasgow, Coventry, Peterborough and Loughborough. The 2002 conference will be a one day event in Derby.

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Constipation can occur, probably caused by poor muscle control. Make sure there is sufficient fluid and fibre intake.

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Contracts between the person with PWS and the parent or professional seem to work well, allowing things that the child wants to take place to happen, in return for co-operation in addressing problems, e.g. diet, tantrums, tidying rooms.

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Control can be central to some of the behavioural problems in PWS. Children with the syndrome may resent their lives being controlled by others, and this is particularly so as they grow older and reach adulthood. As much control as is safe must be vested in the person. It must be very difficult for an adult to know that they are being continually watched, even spied upon, and their basic everyday needs, as it were, restricted.

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Co-operation between everyone concerned with the well-being of the person with PWS is vital. Any sense of 'them and us' can only be destructive.

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Counselling may be very helpful for parents to come to terms with the diagnosis in the early years. This requires a specialised approach following a lot of trianing. Professional counsellors should be used. Parent to parent support may be available through the PWSA(UK) in some areas.

In teenage and later years, counselling may be helpful for the person with PWS, themselves, to come to terms with their syndrome and with the problems it causes in their lives. Counselling youngsters about diet is difficult. Saying, "Eating too much may make you ill or kill you" may have little effect, as the continuing success of the tobacco industry indicates. Pointing to the availability of more stylish clothes for the slimmer person or the greater ease of participating in physical activities may be a better bet. At the 1997 conference in Coventry, adults with PWS stated clearly that they found emphasis on the risk of an early death unsettling and unhelpful.

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Cryptorchism, or undescended testes, is common in males. Each person varies in their development, and a specialist in this disorder should be consulted. Surgery to bring down undescended testes is often successful, at least partially.

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Cure of PWS is not possible - it is an genetic condition for which at present there is no cure. It is known that several genes are affected. There are, however, strategies for management and support. These can help people working with those who have the syndrome feel more supportive and enable them to read a potentially difficult situation in advance. Consistent handling and knowledge of how to programme the day helps.

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Dance, Drama & Role Play has been found to be an effective therapy. Specific incidence of bad behaviour has been incorporated into role play a few days later, in order to try to get to the bottom of the problem.

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Deletion refers to the absence of a part of a chromosome. A cause of Prader-Willi Syndrome in some people with the syndrome appears to be a deletion in chromosome 15.

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Dentists may refuse to take NHS patients but your Health Authority should be able to refer you to one who does. Since the syndrome requires modification of diet, it may have consequences for teeth & gums. Hormone treatment may alter the normal course of growth and development and this may too have oral consequences. Reported problems include micrognathia (small jaw) which may lead to crowding and subsequent referral to an orthodontist, hypoplastic enamel leading to enamel attrition, which may be treated with a suitable coating, unusual and sticky saliva, and poor dental hygiene, which can be improved with instruction from a dental hygienist.

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Diabetes can occur in people with PWS although the incidence is not known. The usual cause of diabetes in PWS is obesity.

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Diagnosis is easier and more likely now that diagnostic criteria are available to all paediatricians in the UK. Although it may appear that the number of children being diagnosed is increasing, the truth may well be that this is probably due to increased awareness of the syndrome. Despite the fact that some paediatricians may be reluctant to 'label' a child, early diagnosis is thought to be essential from the dietary point of view. An additional advantage of early diagnosis is that parents can then get a 'framework' for the rest of their lives, and the young person can grow up with an appropriate life style.

There is still a chance of having an undiagnosed person with PWS in any large group of people, e.g. a school. Relatively recently the Association came across a 44 year old man, who had only been diagnosed six months before.

Diagnoses must be given promptly and with sensitivity. They have been known to have been given over the telephone, with minimal supporting information, or found out by reading the baby's notes at the foot of the bed. Parents have been given out-of-date information, emphasising only the problems and possible worst case scenario, photocopied from medical textbooks. This is not appropriate. The importance of early diagnosis cannot be emphasised too much. There are still occasions when it is difficult to get a firm diagnosis. This affects access to support services, and makes it harder to convince other professionals that there is, indeed, a problem.

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Diarrhoea, frequently loose bowels, etc., may result from the poor muscle tone found with the syndrome. This can make toilet training for children an even greater challenge.

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Diaries can be a useful encouragement to lose weight, stop skin picking etc.

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Diet is for life, not just for a while. Those who are taught about their eating problems, and the need for self-discipline, whilst at home, appear to have more self-discipline when they leave home.

It sometimes pays to give the person with PWS a small portion of what everyone else is having. In fact, this can form a useful behavioural strategy, allowing the person with PWS to share (albeit in a limited way) with their family and peers.

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Dietary Management is an essential fact of life for those with PWS. Some youngsters appear not to conform to the stereotype and can cope better with appetite, so there may be varying degrees of desire ranging from mild to acute. It is possible that hereditary factors may come into play, or that families with a tendency to obesity may well produce children who become obese. Whatever the case, it is important that dietetic advice is sought from the weaning stage.

Food is a central part of family life, and it is important to educate the child about the necessity for diet, from an early age, e.g., "If you eat too much, you won't be able to run about." Some parents have found that 'conditioning' from an early age works.

Children with PWS love to talk about food and the next meal. They like to think about it, talk about it, prepare it, and, of course, eat it. They are quick to realise the significance of actions relating to food. The fact that they are able to 'cue in' to these actions would seem to indicate that they might be able to be 'cued' in to other things.

Pre-school opportunity groups may not always recognise the problem of controlling food intake. If a parent insists that biscuits are put away during the session, does this affect the rights of other participating children? Solutions might include the provision of a 'special' biscuit for children who had PWS or enrolling the assistance of participating parents by giving them a short talk about the condition.

Some parents feel guilty about locking away food. There is a need for independence in food selection - a need to build in choice and decision making, although full independence is unlikely. Be creative, provide suitable food from which the choice may be made. It has been suggested that a high fibre diet makes the stomach feel more full but, as far as we know, this has not been shown to work.

Remember people with PWS prefer eating to drinking and it may be necessary to remind them to have a drink occasionally. Diet drinks are fine, with one to two bottles a week as a guide. Fruit juice does contain calories and acid (which can harm teeth, and which is also present in cola) and should be counted in the daily calorie intake..

It is always better if the child can be educated to get used to smaller amounts of food. Since the person with PWS seems not to experience feelings of satiety, it is better to educate them to use other cues for an appropriate amount to eat - for example the visual appearance on the plate. No drugs have been found successful in the suppression of appetite in PWS, and if they were, they would be unlikely to overcome the rigid and stubborn personality traits.

Problems can occur with stealing and foraging, and on outings. Delays to expected meal times can cause tantrums.

Early diagnosis of the syndrome is essential. Everyone caring for the person needs to be educated about their special dietary needs and that includes the person with PWS. The PWSA(UK) has produced a number of guides including Food and Health, and Notes for dietitians. To many people, who are affected by the syndrome, the word 'diet' is like a red rag to a bull. We may need to start using alternative terminology, e.g. 'healthy eating' or 'nutrition' and avoid talking about 'reducing' meal size or 'dieting'. A video film, charting weight loss, can be a source of pride and motivation and daily weighing with the weight plotted on a simple line graph may help to encourage the individual.

Distraction may take the mind off food, or it may not, depending on the individual. Some individuals can seem to forget about food when they are involved in an activity they enjoy, sometimes for surprising lengths of time.

Cookery lessons, and food preparation in general, are issues that need to be considered carefully, particularly in relation to independence and rights. Supervision and control are probably necessary. In school, Food Technology teachers must be made aware of the situation and expected to tailor recipes to be low calorie.

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Dietitians are trained professionals who advise on diet and nutrition. Some work in hospitals, some in community teams, and some in larger GP practices.

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Discipline, firm and consistent but caring, is very important from an early age. Once behaviour problems are allowed to set in, they will be magnified with increasing age and exacerbated with the stubbornness that is associated with the syndrome.

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Disomy is when both chromosomes of a pair are inherited from one parent, rather than (as is normal) one from the mother and one from the father.

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Driving Licences can be held by people with learning disabilities unless they cause a danger to the public. A few people with PWS in the UK have had driving lessons, but have given up when they have found it too difficult. The PWSA(UK) is aware of one person in the UK who holds a full licence, and at least one case is known in the USA.

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Education about the syndrome is necessary for parents, carers and professionals and for the person themselves.

The choice of school is paramount and while it may seem at first to be a choice between mainstream, special or residential school, it is probably more important to make sure that the school chosen has a calm atmosphere and a caring philosophy, one that values every individual in the school and not just the academic and sporting high fliers.

A Statement of Educational Needs should be sought and advice taken in arriving at it. Remember, it is the needs of the child that are supposed to be addressed, and therefore the Statement should consider more than just academic needs - the child with PWS also needs to be taught dietary management and social and living skills. More detailed notes are available on the subject of the education of the child with PWS.

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Employment for people with PWS is complicated by their craving for food, their inflexibility and, at times, their unyielding determination to do things their way. A few are able to get part-time employment, and one or two are known to be in full-time employment but for most them the answer appears to be some form of supported employment such as Adult Training Centres (see above).

One young girl had proved to be very good at dressing and changing babies and young children, but had spent more time talking to adults about them than playing or working with the children.

Office work had been tried by one student who already had a couple of GCSEs, but she was easily distracted by other things happening in the office, and stopped what she was doing. She would also refuse to carry out a task, if she did not feel like doing it. One other young man does work in an office where they are sympathetic to his needs.

One girl had a job in a staff canteen, but this was not an appropriate placement as the temptation to eat left-over food was too great.

One young man had a job with a small builder but lost it when he stole the other workers' lunches.

However, one young woman has a job chopping wood for the community in which she lives, which gives her a sense of importance.

One person helps with a milk round - employment with exercise, perfect!

Employers must know what they are taking on, when they employ somebody who has PWS. They should be given a contact number and asked to ring immediately there are problems or the placement will break down, and the blow to the employee's self esteem will be crippling. Some local authorities are setting up Work Assessment Centres to take disabled people and see if they can find work in the community.

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Endocrinologists specialise in the metabolic and hormone systems of the body, including growth, sexual development, and diabetes.

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Exercise is even more desirable for those with PWS than for most of us. Exercise not only burns up calories but also increases muscle mass, which then burns further calories. Weight loss will not necessarily be immediate since muscle weighs more than the fat it initially replaces. Exercise may vary from a fifteen minute walk to a cardio-vascular workout in a sports centre. Exercise with weights may be ill-advised before bone growth is complete, and advice must first be taken from an endocrinologist or paediatrician.

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Exclusion from physical exercise because of weight, or from contact with food because of the need to restrict intake, may lower self-esteem and lead to poor self-image. Worse still, is exclusion from the company of peers because of poor social skills or odd behaviour, and this can lead to strong feelings of loneliness and misery.

There is always a danger that in our concern to care for and protect learning disabled people, we may ourselves exclude them from taking as appropriate a role as possible in society. For example, we may restrict their participation in decision making about their lives, or we may discourage boy friends or girlfriends because of our own inability to handle the issue of sexuality (one young woman at the Coventry conference expressed considerable anger that she and her boyfriend with PWS, who has since died, were prevented from marrying).

The PWSA(UK) is increasingly trying to include people in its organisation and decision making and in the services it provides.

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Failure to Thrive is common during the first stage of the syndrome. Feeding problems are common: newborns often have very poor suck; they may fail to awake for feeding sessions and when woken may appear listless and disinterested. Often this leads to inadequate intake of energy and nutrients and results in poor weight gain. Sometime after the age of one year this failure to thrive gives way to the second stage of PWS - a seemingly insatiable, indiscriminate appetite.

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Families need to be fully educated about the syndrome and committed to supporting the appropriate restriction placed on the person with PWS. Existing relations (grandparents, uncles, aunts etc.) and new relations (step parents, in-laws) need help to come to terms with the syndrome and information to understand it. One grandparent understood that his granddaughter with PWS could not have regular presents of ordinary chocolate, but failed to appreciate that diabetic chocolate may lack sugar but still contains fat. The PWSA(UK) has now published a special leaflet for grandparents, and encourages them to become members of the Association and to attend conferences.

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Family Life and relationships can be radically altered by the inclusion of a member with PWS. It is even more important that parents present a united front in dealing with the child with PWS, than it is in raising their other children.

The needs of the other children in the family do need to be remembered and addressed, as do the needs of each parent. One brother recounted how he never had any money, or went shopping alone, because his elder sister had PWS, and this had set the precedent. Brothers and sisters need to be informed about the condition that their sibling has - considerable concern at being uninformed and uninvolved in planning for their disabled sibling has recently (Oct. '97) been the subject of a sibling chat forum.

It is important to appreciate the stress that may be caused to a family which has a member with PWS. Although, superficially, the child may not appear to be particularly handicapped, or difficult to care for, they can be a chronic burden and occasionally the difficulty in caring for them becomes intolerable; there should be provision for Respite Care (the PWSA(UK) may be able to advise on this). The PWSA(UK) Local Group can have its place and value in offering family support. Where none exists, parents should consider starting one, or pairing up with another family to provide a friend for their child and to exchange ideas or respite care. Sometimes, parents attending local support groups do find it depressing at first, but often begin to feel the value of the support offered after several meetings.

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Feeding Problems immediately after birth are typical (found in 93% of cases according to the Pediatric Database). It is common for feeds in the early weeks to be by tube and even for parents to take their babies home from hospital tube feeding them, once they are confident to do so themselves.

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Food Labelling may still need improving but is better year by year and better in the UK than in some other countries. Supermarket shopping for the family with PWS becomes a completely new experience, particularly in the early days, as every purchase needs to be examined for fat and sugar content.

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Funding, or rather lack of it, can be a barrier to the provision of suitable services for the person with PWS. Be sure to claim the Allowances to which you and the young person are entitled. Funding for the 19-21+ age group, for respite care, and for educational and permanent residential care, may be slow and difficult to obtain. Planning and early application is recommended.

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The Future needs to be thought about and planned for from an early age. As soon as possible, involve siblings and other family members. In particular, planning for when the child leaves school should start by the age of 14, to give plenty of time to ensure that the correct support is in place. Every child with a Statement of Educational Needs should have a Transition Plan prepared shortly after their 14th birthday as part of the Statementing process.

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Gastric By-Pass Operations are operations which prevent the absorption of too many calories, when food is eaten to excess. The resulting diarrhoea is not pleasant. Mrs LR has described her son's experience with one.

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Geneticists provide confirmation of a diagnosis following chromosomal analysis and provide counselling to parents and other relatives about the possibility of recurrence.

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GPs may never see or have seen another case of PWS. They can be supplied with information leaflets from the PWSA(UK). Parents should be confident enough to realise that in most cases they know more than the GP about the specifics of PWS (although not, of course, about medical problems in general). There is concern about the low number of GPs who attend the PWSA(UK) Multidisciplinary Training Days or annual conferences.

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Grandparents may find it difficult to take the dietary restrictions on board, and insist on handing out sweets. They should be encouraged to read about the syndrome and even to join the PWSA(UK) and to attend Training Days or Conferences. The Association now has a special leaflet for Grandparents.

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Growth Hormone Treatment should be considered for children with PWS. It is expensive and may be resisted by GP Fundholders. The support of a hospital endocrinologist will be needed. Before discussing this with your paediatrician it is worth finding out as much as possible - some information is available on-line.

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Guardianship Orders provide a framework for supervision and support in a community setting under the Mental Health Act (1983). This is described in A Handbook for Parents and Carers of Adults with PWS.

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Guilt is not an appropriate feeling for parents of a child with PWS. Some parents do experience enormous feelings of guilt about their child's handicap, blaming themselves for its occurrence but, the truth is, that nothing they could have done would have prevented it from happening. Diagnosis not only brings with it a better understanding of the problems, and information about how to deal with them, but may help parents who feel that their child's behaviour or condition was due to some fault of theirs, to shed their sense of guilt.

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Hair has been pulled out and eaten by at least one girl with PWS.

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Health Visitors certainly have plenty of experience about babies and young children but have probably no experience of PWS. They should be encouraged to attend Multidisciplinary Training Days on the syndrome and presented with information leaflets from the PWSA(UK).

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Height is below average in people with PWS (typically below the 3rd percentile) and the problem is exacerbated by a lack of pubertal growth spurt in the teens. This can be addressed to some degree by treatment with Growth Hormone.

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Holidays are not a break from food supervision and a secure environment. Parents may be wary about sending their children away because experience shows that, despite the willingness of the organisers to implement dietary requirements, weight will creep up in many cases. Making sure that teachers and youth leaders or other organisers are fully informed of the seriousness of the dietary restrictions will certainly help. Being prepared to send along diet drinks, artificial sweeteners, or other special foods may help. The PWSA(UK) may be able to help with lists of holiday accommodation which has experience of people with PWS or with people with learning difficulties in general. When funding is available, the PWSA(UK) does organise BREAK holidays for young people with PWS.

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Hygiene, which can be thought of as a learned behaviour, may be poorly acquired or understood by the learning disabled. Being very overweight can increase the problem of maintaining adequate personal hygiene. Training in personal hygiene can be incorporated into college courses, as an area of living skills and personal responsibility. Carefully directed peer comment in organised and well run group situation may be particularly effective.

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Hyper is the medical term for too much, or above average.
Hypo is the medical term for not enough or too little.

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Hyperphagia is the medical term for excessive appetite and overeating.

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Hypogenitalism is the medical term for underdeveloped sex organs in the male. Many young men are upset because they have small penises and undescended testes. In such cases cosmetic surgery and or hormone treatment can help.

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Hypogonadism is the medical term for immature development of sexual organs and other sexual characteristics.

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Hypopigmentation describes a reduced coloration of tissues. People with PWS are often fair skinned and may exhibit an albino-like appearance of the retina.

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Hypoplasia is an unspecific term used to refer to the defective development of any tissue.

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Hypothalamus is the name given to the area of the brain which controls temperature, growth and development, and appetite. It is though to be a malfunction in this area of the brain that causes the symptoms of PWS. Injury to the hypothalamus in later life can lead to PWS-like symptoms and behaviour in previously unaffected people.

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Hypotonia, or weak muscle tone, and floppiness at birth is one of the diagnostic characteristics of PWS. This floppiness is often so pronounced initially that the ability to suck is reduced to the extent that the baby will require tube feeding for the first few days or weeks of life. Physical milestones such as sitting, standing and walking are much delayed with the infant typically first walking after the age of two.

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The Incidence of PWS is thought to be about 1:15,000 to 1:20,000 live births. There appear to be areas where there are very few known cases, and areas where there are relatively many. This is thought to be linked to levels of awareness and experience in professionals, e.g. teaching hospitals would seem to have pockets of greater incidence around them. Not all families join the Association, so it is not possible to say, with any certainty, whether cases are evenly distributed across the country or not. Race or sex are not thought to be variables in the incidence of PWS.

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Identity Cards for people who have PWS can be obtained from the PWSA(UK). These can be used if they get into trouble or have an accident. They may help to explain the craving for food is so strong that shoplifting, for example, is not seen as mere delinquency.

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Independence may never truly be achieved by the person with PWS. It seems that, inevitably, independence leads to overeating and weight gain, which in its turn leads to lack of independence due to want of mobility, and poor health. Intervening to restrict the diet, while not offering true independence, may offer a greater opportunity for physical independence and better social integration. No longer having to take personal responsibility for resisting food, may allow the person with PWS to feel a great BURDEN has been lifted from their shoulders. In a life threatening situation, independence is not a priority.

When IQ is relatively high in people with PWS, they are aware of what they can and cannot do, so some degree of independence is essential, but total independence is probably not feasible. It is wise to be realistic about what can be achieved. Proper placement and proper daytime placement, i.e. sheltered, supported living, may be a good alternative to independence. We are not aware of anyone with PWS who has lived totally independently for more than a couple of years at a time successfully.

Social workers often disagree with parents about the degree of independence which a post 16 year old with PWS can have. This can lead to the risk of relaxation of strict control of food and food buying. A parallel with diabetes is relevant. Both are life threatening conditions, and no one queries that a diabetic should have a restricted diet. However, it is true to say, that a diabetic can usually cope with restricting their own diet. In addition, if a diabetic takes the wrong food, the effects are immediate, and easily detected; with PWS the effects are longer-term and harder to control. If you find yourself in conflict with a Social Service department that appears not to understand the true nature of PWS, the PWSA(UK) may be able to help as an informed mediator.

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Information about the syndrome is becoming easier to find. It should be spread as widely as possible. Ideally, everyone who comes into contact with the person with PWS should be educated about it. If you maintain a Web page, please put a link to our home page on it.

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Intelligence and Comprehension are not the same. People with PWS may record IQs in the normal range but the spread of their abilities is mixed. People with PWS may often appear more able to cope than they really are. Conversely, when exhibiting traits of perseveration or inflexibility and stubbornness, they can appear much more limited than they really are.

The IQs of people with PWS are an imprecise measure of their true ability, because of the uneven scatter of abilities in the measures used to arrive at a global IQ figure. Most children with PWS have some learning disabilities although a significant number, perhaps as many as half, fall within the normal or borderline range. Several people with PWS have gained GCSEs.

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Isolation is the lot of many children with learning disabilities due to the accompanying poor social skills. Inevitably, the management of PWS will serve to further isolate the child from its peers (it may be beneficial to allow the odd forbidden food in social situations). Temper tantrums, perseveration, and inflexibility all contribute to peers isolating the child with PWS. Social skills need to be taught and should be included on the child's Statement of Educational Needs.

Isolation can also be experienced by people with PWS of all ages, since they may experience feelings of being the only person with PWS. It is good for them to meet others with the syndrome, and to realise that they are not entirely alone. If they do not meet others at local groups, the annual conference may be the only opportunity for them to share experiences and problems with others with the syndrome. It can be argued that the only person who really understands someone with PWS is another person with PWS, the only true peers are others with PWS. (During a break at the Coventry conference (1997) a group of teenagers and young adults eagerly shared experiences of being called names and strategies for dealing with it; a problem shared does not disappear but it does help to know that you are not the only person to suffer it).

Parents, too, may feel isolated, because there are so few families in any one area who have a child who has PWS. The unsociable aspect of the eating disorder can make parents feel isolated from the rest of society.

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Leisure Activities are limited by the child's practical skills. Give thought to what they can do. People with PWS seem to enjoy sedentary activities such as sewing, jigsaws, word puzzles, solitaire etc. Many seem to enjoy board games and card games (possibly because of the structured 'rules' that go with them). Such games provide an opportunity to join others within a structured setting. It may be difficult for them to take part in activities with peers (causing further isolation) because they lack natural physical skills and physical co-ordination. Parents and schools should consider spending time (which may be considerable) helping them to acquire simple ball skills, learning to swim and cycle and skate, and to roll a ball down 10 pin bowling alley lane, or to acquire a basic ability at whatever the latest craze is.

To take the pressures off parents and the rest of the family, enquire about befriending schemes from your local Social Services department or Council for Voluntary Service. The aim of these schemes is to provide a volunteer for a few hours each week to befriend the person, take them on outings, or just sit and chat.

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Life Expectancy may be stated in older publications as late teens, early twenties, with death occurring due to complications associated with obesity (heart failure, diabetes). The situation today is much more optimistic, with life expectancy largely depending on dietary management.

Despite early diagnosis, some parents have expressed the opinion that dietary management is not worth the effort, and that their children should be happy even if it shortens their life; however, it must be doubted that children who are grossly overweight and being teased and finding it difficult to get around, are happier than those whose weight is kept under control. Unmanaged, life expectancy is almost certainly short (20-30 years); managed, it is considerably longer and there is every expectancy that many of the current people with PWS will eventually draw their pensions. The oldest person we know of was aged 71 years at death.

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Lifeskills can and should be taught. Most people acquire these without being formally taught but the person with learning disabilities may need more help. Increasingly, Colleges of Further Education are offering courses incorporating a Lifeskills element for the learning disabled. Mencap also run successful courses.

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Locks on kitchen doors and cupboards are used by some families to control the access which the person with PWS has to food. Some people with PWS feel much more comfortable with this arrangement since it takes the responsibility and continual temptation away from them.

Digital locks are significantly more expensive but very much more convenient, since no key is required and every member of the family who is old enough to remember the code has access.

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Lying seems to be an finely developed aptitude in some people with PWS, especially when the object is to deny food intake. They can be so convincing, even when caught red handed, that it can cause doubts in the accuser who may begin to doubt their own eyes.

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Makaton is a basic sign language recommended for bridging delayed speech. It can be particularly helpful when a child's comprehension has developed faster than their oral communication skills. Access to makaton classes can be arranged through portage teachers or speech therapists.

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Manipulation seems to be another skill in some people with PWS.

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Marriage is a goal for many people with PWS but for most may be unrealised. However, as the present generation of young people with PWS advance into adulthood it is goal which will need to be addressed. Parents may be frightened or reluctant to face the issues of sexuality and marriage for their disabled child and perhaps should be reminded that the idea of marriage may be for companionship and belonging, not sex (since hormone deficiencies may mean that there is little if any sex drive present).

Although we do know of one or two people with PWS who have married, they have not been able to have children. One woman with PWS publicly expressed her continuing regret and anger at being prevented from marrying her boyfriend who has since died. Legally, and surely morally, the adult with PWS is as entitled as any one else to enter into a contract of marriage, provided that they understand the nature of marriage and the responsibilities that go with it.

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Memory in people with PWS can be almost phenomenal. Cases have been known of people being able to recall the route of a journey, many years after it had taken place. Care must be taken, therefore, when giving instructions; what goes in tends to stay in, and may be difficult to modify. [It isn't wise to argue with someone with PWS about something which happened three years ago last Wednesday - you will lose]. Long term memory for people and places is good; short term memory for abstract concepts and instructions is much weaker, so that academic memory in people with PWS can be poor, with what appears to have been learned today, forgotten tomorrow.

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Mental Health problems may go unrecognised because of the learning difficulties. There have been some reported psychiatric difficulties in people with PWS but it is not known if they occur more than in the general population.

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The Mental Health Act (1983) is a complex subject best explored with professionals or even with a solicitor. It is described in A Handbook for Parents and Carers of Adults with PWS.

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Money can be a major temptation for people with PWS, since it is easily exchanged for food, and the temptation for many may be too much. It may be advisable for someone to become an appointee (see above), to take charge of income. However, there is the additional problem of the residue from weekly allowances and the undesirability of the person with PWS accumulating large sums in bank accounts, which might ultimately affect state benefits to which they are entitled.

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Music therapy for younger children can build their communication skills, their expressiveness and their concentration. Many people with PWS have demonstrated skill at playing musical instruments. Some public provision is available.

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Neurologists specialise in diseases of the brain.

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Nystagmus is a complex condition which manifests itself in the form of involuntary movement of the eyes, normally from side to side, which can seriously reduce vision. Nystagmus has a number of causes and is usually a symptom of an underlying problem in the neural pathways behind the eye.

The effects of Nystagmus vary from person to person but for many depth perception is reduced, leading to poor hand-eye co-ordination. People with Nystagmus may need more time to see and identify things: scanning ability is reduced which may slow reading speeds (perhaps requiring examination boards to allow extra time). Although many people with Nystagmus can read small print if they are close enough to it or use a visual aid, clear, large print should be provided.

The Nystagmus Action Group has a telephone Hotline on (01392) 72573.

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Obsessive Behaviour is part of the syndrome. Typical compulsive behaviours include cutting paper into little pieces and doing jigsaws, word searches etc. Obsession with time is possibly linked to poor short-term memory. Perseveration (see below) is one form of obsessive behaviour. Obsessive behaviour can be deflected by making a joke of the situation, or, where a particular item is involved (e.g. a chair), playing a game like Musical Chairs, involving that chair. Some parents pick up on each occasion when the word is used, others set a time limit on discussion of a topic.

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Oestrogen is the female hormone, and artificial forms can be given to stimulate the onset of periods, or to regularise their occurrence, which may help the young woman with PWS to feel more normal. As people with PWS are looking forward to a more normal lifespan, there is concern arising about the risk of osteoporosis due to lack of natural oestrogen production and this may also be treated with artificial oestrogen supplements.

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Orthopaedic Surgeons specialise in bone diseases and injuries e.g. scoliosis (see below).

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Osteoporosis is a wasting of the bones which may be related to oestrogen deficiency and therefore be treated with artificial hormone replacement. Women with PWS are particularly at risk from osteoporosis..

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Opticians/Opthalmologists are concerned with problems of the eye. People with PWS are reported to have reduced pigmentation of the retina and to suffer from Myopia, and Strabismus, and less commonly Nystagmus. There has been little written about the optical problems of people with PWS but recently some concern has been expressed about focusing abnormalities and research is currently being conducted into this.

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Pain threshold in people with PWS may be high and can mask acute physical symptoms of illness, e.g. appendicitis. There have been reports of a person collapsing from a burst stomach ulcer before mentioning pain and of another having a chicken bone stuck horizontally in their throat and then complaining of "discomfiture". The high pain threshold means that serious illness can be difficult to diagnose and that there is a danger from using very hot water unsupervised. Pain and temperature control are also controlled by the hypothalamus, and the degree of damage to the hypothalamus will be reflected in the degree of irregularity in these controls. Pain can be complained of as an attention seeking ploy.

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Parties can be a source of distress for people with PWS. Many will have enjoyed few if any experiences of being invited to parties and yet they see their peers being invited to parties regularly, further emphasising their separateness. When invited to and attending parties, the sight of everyone else stuffing their faces with clearly desirable foods, while the person with PWS nibbles their carrot and low calorie yoghurt, may reinforce feelings of isolation and the unfairness of life. One strategy is to allow the person with PWS small portions of party food on the understanding that other meals that day will be lower in calories to compensate.

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Periods and the onset of menstruation varies widely amongst women with PWS. In rare cases this is early, but the vast majority do not experience periods until their late teens or their twenties (one person is reported to have started periods at the age of 35). Some women do not have periods at all. Even when menstruation occurs, it is likely to be scanty and/or irregular. Oestrogen (above) can be used to bring about the onset of menstruation. The absence of periods indicates the possibility of low natural production of hormones and this could put the person at risk of osteoporosis (above) in later life.

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Perseveration is another behaviour that challenges the patience of teachers and peers. It usually takes the form of repetitive questioning and/or repeated engagement in singular play (such as tearing paper or drawing circles). There are some practical suggestions for dealing with it but no easy quick answer.

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Perspective is easy to lose. It is easy for parents to focus on the 'can't dos' rather than the 'can dos'. Negative behaviour is not evident all the time and 99% is working with positives. One residential home noted that out of seven clients with PWS, only one was a real problem, and two an occasional problem.

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Physical Activities are unlikely to be popular with people with PWS. Poor muscle tone is a feature of the syndrome and this, together with poor co-ordination, can lead to physical problems and a dislike of physical activities. However, physical activities burn calories and physical exercise (see below) should be taken.

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Physical Disabilities include hypotonia (poor muscle tone - see above), poor balance and lack of co-ordination and, if overweight, lack of energy and stamina. Shape of mouth and palate combined with the hypotonia can make it difficult to eat certain foods, and this may need to be taken into consideration when diet is drawn up. Many younger children find it difficult to blow their nose.

Small hands and feet are common, due to lack of growth hormone. Typically, a woman with PWS will take a size 1-2 shoe, and a man a size 3-5 shoe. Minor abnormalities and differences in length of legs and feet are relatively common.

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Physical Exercise is extremely important, even if it is not at the same level as that experienced by other teenagers. It helps diet by burning calories and improving muscle mass. Many young people with PWS have poor balance, and find stairs difficult, therefore exercises on apparatus, like wall bars, may be very difficult. Initially, start with activities they can do and move on from there. Exercise bicycles are very useful, and this can be done at home, even while watching TV, and exercise cycles can and do improve balance. One girl, who was having difficulty learning to cycle aged 14 due to problems with balance, learned to cycle in an afternoon after six months using an exercise bicycle..

The difficulties can cause PE classes to be a focus for behavioural problems. An individual programme of aerobics, or exercising to music, may be one way of dealing with the problem. Suggested exercises for young people can be found in LR Greenswag and RC Alexander's Management of Prader-Willi Syndrome. These exercises use skateboards, which can be used to lie on, and shaped foam blocks, for rollovers. Help will be needed, and a reinforcer at the end, e.g. a star towards an agreed goal. Local fitness clubs offer a "trendy", fashionable way of taking exercise and the cardio-vascular equipment is particularly suitable. Exercise with weights should be avoided until growth is finished or unless approved by paediatrician or endocrinologist.

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Physiotherapists provide advice on ways of treating and relieving pain, and ways of increasing mobility and muscle tone. In some areas they will make home visits, in other areas it may be necessary to visit them in hospitals or health centres.

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Portage involves a trained person (often a Health Visitor) visiting the home to work at skill acquisition with developmentally delayed infants, through play type activities which they teach the parent to use. This has been very beneficial for some children