Your son or daughter is now entering their teen years. This is an exciting time, with many challenges as they begin to mature toward adulthood. Teenagers living with PWS are generally as healthy as others their age, but are also prone to the same teen illnesses and diseases.

However there are some unusual features of living with PWS which require special attention and may not always be evident to those who have little experience of the syndrome or when the unusual features are subtle or mild and hence more difficult to identify.

Introduction

These features are included in this article, along with some health issues which are quite common in people living with PWS.

Please remember that all teens are individuals. Issues vary considerably between individuals and your son or daughter may not experience all the characteristics of this multi-system, multi-stage syndrome. As time goes by, you will be able to identify which of the health issues below are important in your teen’s journey.

Food seeking

As your son or daughter gets older, they are likely to experience varying degrees of independence; this can lead them to having access to food and food outlets.

Going to TAFE is a typical example of when this occurs. Some cope with this better than others, but generally speaking it will mean that others within your son or daughter’s circle should be made aware that access to food should be controlled.

Individuals with PWS may be quite indiscriminate in what they eat, e.g. poisonous berries, out-of- date food, frozen food, food from waste bins or off the ground. There are reports of people living with PWS eating large quantities of items like salt or shampoo, though this is not common.

The lack of vomit reflex (see below) may mask or hide the fact that the person has ingested inappropriate items. A dramatic weight increase within a day – especially if coupled with reports of abdominal distress and/or bloating (and occasionally vomiting) – may be a sign that your child is severely ill. Similarly, symptoms such as loss of appetite, diarrhoea or significant fluid retention are also reasons to seek urgent medical advice. See also gastric problems below.

Orthopaedic issues

Young people living with PWS have a high risk of developing scoliosis (curvature of the spine to one side) and/or kyphosis (curvature of the spine that causes the top of the back to appear more rounded than normal). Hence the teen’s spine or back should be examined regularly (or at least once a year as a minimum) to identify if he has scoliosis to institute any intervention if needed.

Scoliosis or kyphosis can develop for a number of reasons. Children living with PWS can have poor muscle tone and poor muscle power; this often leads to poor posture and curved skeletal development. Often syndrome related obesity or increased weight can make the scoliosis worse.

Some families worry that treatment with growth hormone can precipitate or worsen the scoliosis. Growth hormone is generally safe and is unlikely to cause an increased incidence of scoliosis. However, in those who already have scoliosis, it may worsen and hence should be monitored more closely. If a particular teen has severe scoliosis, then growth hormone therapy is contra-indicated.

Conservative measures like good posture, good care of the back and physiotherapy are all helpful and useful. Generally, no other treatment is required for mild scoliosis or kyphosis. However, for moderate to severe scoliosis, interventions are needed, such as a spinal brace. In very severe and complex cases surgical intervention may be needed.

Skin lesions

A common feature of living with PWS is skin-picking, which may be first noticed at this age, and can be exacerbated by anxiety. The article on ‘Supporting appropriate behaviour 13-18 years’ gives you more information about how to best support these challenges. It is extremely important to monitor any wounds for infection and obtain appropriate treatment advice from your GP if this occurs.

If your son or daughter is very overweight, they may also have oedema or lymphoedema (fluid in the limbs, usually legs and feet), which produces swelling. Sometimes the skin can get infected and cellulitis (inflammation and infection) can occur. This requires immediate treatment.

Respiratory problems/Obstructive sleep apnoea

Teenagers living with PWS may have respiratory problems and can be prone to chest infections. Sleep apnoea (where the youth momentarily stops breathing while asleep) is sometimes seen in young people; this is exacerbated when the person also has increased weight gain or obesity. When sleep apnoea is suspected, please alert your doctor because this will require further specialist investigation and possibly treatment.

Risk of choking

Choking happens when food or fluids gets into the airway, rather than going into the stomach. This can happen in any person, but lack of vomit reflex makes it more difficult and tricky to identify in a person living with PWS. There is a risk of choking when people with PWS try to eat food quickly, either because they habitually do this, or because they are trying to disguise the fact that they eating when they shouldn’t.

Encourage your teen to eat slowly and chew food properly before swallowing. Some families encourage the ‘chew chew sip’ approach, ie. encourage small sips of water during eating to improve oesophageal emptying.

Bruising

Bruising can happen more easily; additionally, they may not notice at the time of injury or accident, due to high pain threshold. Hence the presence of a bruise should alert you to actively look for any other signs of an injury to your son or daughter.

Temperature

Teenagers living with PWS may have below-normal temperatures at times and may not have a high temperature even when seriously ill. Even slight temperature elevations should be considered as a warning sign and to observe your son or daughter closely for any other clues. If in doubt, ask your doctor to examine them. It is also a good idea to ask your doctor to make a note of his temperature when they are healthy so that you have a base line guide for variations.

Vomiting/abdominal pain

Individuals living with PWS do not commonly exhibit a vomiting reflex, even when unwell.

Lack of vomiting cannot be taken as sign that little is wrong.

If your young person has a fever, or is not responding as they usually do, you should seek your doctor’s help, to check them out.

See also the section on ‘Temperature’.

High pain threshold

Individuals living with PWS frequently have decreased sensitivity to pain and thus there is a potential danger of under-estimating an injury or illness. Therefore:

• All known injuries must be assessed by a GP or paediatrician to exclude any serious problems. If your teen shows symptoms that are out of the ordinary, it is a good idea to have them checked over.
• Following a significant fall or other injury, the person should be closely monitored for a change in posture, walking or movement of limbs.
• Observe for deformities, swelling or bruising as these may indicate an undetected broken bone or fracture.

Sexual development

Some teenagers may have already experienced the first signs of sexual development, sometimes starting as early as 5 years with pubic and underarm hair appearing. However, in the majority of cases, full sexual development does not occur in either men or women living with PWS.

Teenage girls may not experience the onset of periods and breast development may be slow. Teenage boys’ voice may not break. Sex hormone treatment will help with these issues. Specialist input from a paediatric endocrinologist should be sought.

Obesity-related challenges

Obstructive sleep apnoea and breathing difficulties (respiratory failure) are the most common problems for the young person who is significantly overweight. Congestive heart failure and pulmonary hypertension may also occur at this age due to significant obesity.

Good and pro-active dietary support, together with regular physical activity, can help prevent obesity and obesity related problems getting worse. However, it is extremely important to have regular check-ups to ensure weight is within the normal range; also this will help to put measures in place if weight starts to creep up.

Regular checks to exclude diabetes and high blood pressure should be considered.

Mental health challenges

Some teenagers living with PWS may experience mental health challenges. These can include depression, lethargy, severe anxiety, and occasionally acute psychotic episodes. Professional psychiatric help should be sought in these cases.

Researchers have found that those with the maternal disomy form of PWS are more liable to psychosis, so if your son or daughter has this type of PWS, and begins to show unusual behaviour patterns, for example more, or more vivid confabulations you should obtain a referral to a psychologist or psychiatrist.

Severe gastric illness

Abdominal distention or bloating, pain, and/or vomiting may be signs of life-threatening gastric inflammation or necrosis, more common in people living with PWS than in the general population. Rather than localised pain, there may be a general feeling of unwellness. If an individual with PWS has these symptoms, close observation is needed. An X-ray, ultrasound or an endoscopy with biopsy may be necessary to determine degree of the problem and possible need for emergency surgery. Treating GP’s and specialists can find a diagnostic chart in the PWSA Medical Alert Booklet to aid in rapid diagnosis.

Gastroparesis

Another consideration is gastroparesis, a weakness of the stomach that causes delayed stomach emptying. This is a condition that is common in PWS and can be more life threatening then in a typical situation. A person living with PWS when diagnosed with gastroparesis may need hospitalisation. Eating while the stomach is distended with gastroparesis can be very dangerous.

Low cortisol levels

Cortisol is an important stress hormone which the body produces all the time, but increases the production to help deal with illness, infections or stress. There have been several studies looking at adrenal function in individuals living with PWS. A study from Holland raised the possibility that deficiency of cortisol was much more common than expected in PWS; however later studies have not reproduced this result.

Individuals living with PWS are probably more likely that the rest of the population to have cortisol deficiency, and the current guideline suggests that individuals are not tested routinely, but a test should be done if there is any concern. Symptoms of low cortisol include tiredness, low blood pressure, episodes of low glucose or fainting.

Anaesthesia

There is nothing inherent in PWS which gives cause for concern with the administration of anaesthesia. However, all individual health complications related to PWS should be taken into account. These include:

• Obesity (may be associated with obstructive sleep apnoea, high blood pressure, poor breathing pattern (hypo-ventilation) which is further exacerbated by hypotonia or poor muscle tone etc.).
• High pain threshold (see above).
• Temperature instability – you should inform the anaesthetist about your child’s usual temperature.
• Food seeking behaviour is common in people living with PWS (though generally not in infants). However, the anaesthetist or health professional should assume that your teen has eaten and has food in his stomach, unless you can verify otherwise.
• Low muscle tone may cause difficulties in their ability to cough and clear secretions from their airway. In addition, thick saliva may further complicate airway management.
• Excessive post-operative drowsiness may be present in some people.

Further information about anaesthesia can be found at http://www.pwsausa.org and view the Medical section for articles on Anaesthesia. Alternatively, anaesthetics is discussed at Orpha.

Published research:

• Anesthesia and Prader-Willi Syndrome: James Loker, M.D., Laurence Rosenfield, M.D.
• Anesthesia Concerns for Patients with PWS: Winthrop University

Information for hospitals and GPs

You will find further information to give to hospitals and GPs on our website.

PWS Specialist Clinics

Some major city hospitals run specialist clinics for children living with PWS.

Specialist clinics currently run at:

Royal Children’s Hospital Melbourne

These clinics allow you to see several specialists in one day and are staffed by professionals with a special interest in PWS

The hospital system in Australia is designed so that children move onto adult medical facilities around the age of 18 years. Dedicated PWS adult services are hard to find in Australia, however, can be found assistance at:

• Royal Prince Henry’s Hospital, Sydney, NSW

Disclaimer: The content on this website is for information only. Everyone is an individual and needs to seek the advice of relevant professionals.

Thank you to…

PWSA UK and Dr Shankar Kanumakala from the PWS Clinic, Royal Alexandra Hospital, Brighton, and to Dr Nicola Bridges from the PWS Clinic, Chelsea & Westminster Hospital, for the original source information.