Introduction

Your son or daughter will by now be developing their personality and character. Children living with PWS are generally as healthy as other children, and similarly prone to childhood 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.

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

Please remember that all children are individuals. Issues vary considerably between individuals and not all children will experience all the characteristics of this multi-system, multi-stage syndrome. As time goes by, you will be able to identify which of the characteristics are important in your child’s journey.

Food seeking

Most children are quite mobile, can run, jump and climb and go up and down stairs, partly due to natural improvement in their hypotonia (low muscle tone) and/or growth hormone treatment.

With improved mobility and increased appetite, food seeking may become more evident.

Many children can be taught what is edible and what is not; but unless you can be absolutely sure, it is best not to leave your child unsupervised, especially as they are less likely to be sick after eating something unsuitable or inappropriate. If they eat something they should not have, seek medical advice as appropriate.

The degree to which children of this age will seek food varies considerably between individuals. Some are happy to be part of a dietary regime where they only eat what is put in front of them, others will ask for and seek food whenever an opportunity arises.

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 poisonous berries, out-of-date food, frozen food, food from waste bins or off the ground.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

The lack of vomiting 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 a firm, bloated abdomen should be treated very seriously due to the risk of stomach or intestinal blockage and/or rupture after a binge eating episode.

Scoliosis and kyphosis

Children living with PWS have a high risk of developing scoliosis (curvature of the spine to one side) and in later years kyphosis (curvature of the spine that causes the top of the back to appear more rounded than normal). Hence the child’s spine or back should be examined regularly (or at least once a year as a minimum) to identify if they have scoliosis and start 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 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 child 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. The article on ‘Supporting appropriate behaviour 5-10 years’ gives you more information about how to manage this. It is extremely important to monitor any wounds for infection and obtain appropriate treatment from your GP.

Respiratory problems/Obstructive sleep apnoea

Children living with PWS may have respiratory problems and can be prone to chest infections. Sleep apnoea (where the child momentarily stops breathing while asleep) is sometimes seen in children; this is exacerbated when the child also has increased weight gain or obesity. When sleep apnoea is suspected, please alert your doctor because this will require further specialist investigations 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 child, but lack of vomiting reflex makes it more difficult and tricky to identify in a child living with PWS. Choking may only be occasional for your child. However, if regularly occurring you should seek medical advice; A swallowing assessment may be useful..

Bruising

Bruising can happen more easily. Additionally, they may not cry out 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 child.

Temperature

Many 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 child 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 their temperature when healthy so that you have a base line guide for variations.

Vomiting/abdominal pain

Individuals with PWS do not commonly exhibit a vomit reflex. Many are rarely sick, even when unwell.

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

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

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 the problem. Also, they may not cry and alert you if they are injured or experiencing pain.

• All known injuries must be assessed by a GP or paediatrician to exclude any serious problems. If your child shows symptoms that are out of the ordinary, it is also a good idea to have them checked over.
• Following a significant fall or other injury, your child 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.

Obesity-related problems

Obstructive sleep apnoea and breathing difficulties (respiratory failure) are the most common problems for the child who is significantly overweight. Good and pro-active dietary support, together with regular physical activity, can help prevent obesity and obesity related problems developing at this age. It is extremely important to have regular checkups to ensure weight is within the normal range. This will help you to put measures in place if weight starts to creep up.

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 than the rest of the population to have cortisol deficiency. The current guideline suggests that individuals are not tested routinely, but a test should be done if there is any concern.

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 (hypoventilation) which is further exacerbated by hypotonia (poor muscle tone).
• High pain threshold (see above).
• Temperature instability – you should inform the anaesthetist about your child’s usual temperature.
• Food seeking behaviour is common in children living with PWS, though generally not in infants. However, the anaesthetist or health professional should assume that your child has eaten and has food in his stomach, unless you can verify otherwise.
• Low muscle tone (especially in younger children or infants) 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 children.

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

Published research:

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

Vaccinations

Unless your GP or paediatrician advises otherwise, your child should receive ALL the usual childhood vaccinations against disease — there are unlikely to be any side effects from these, other than those usually experienced.

Information for hospitals and GPs

You will find further information to give to hospitals and GPs on our website. In particular see the Medical Alerts Booklet.

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.

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 sharing their original source information.