Healthcare in PWS 18 – 40 years

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Healthcare in PWS 18 – 40 years

Jan 25, 2024

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Being an adult with a disability is both an exciting and challenging. There’s a lot of aspects of life to navigate. There’s new opportunities and responsibilities that come with adulthood, and some are specific to Prader-Willi syndrome.

Hi, my name is Josh. I am a happy, outgoing person who loves life. I have recently been with my friends to the see my favourite team play. Please remember that, while I am living with Prader-Willi syndrome (PWS), it is not PWS that defines me. Like you, my personality is broad and at times complex. Living with PWS is just a small component of my makeup, which can at times present some complex challenges, particularly in relation to effective healthcare. I worked with PWSA on this article to guide you in supporting me and my friends.

 

Introduction

We adults living with PWS can be generally as healthy as others of our age. We are also prone to the same adult illnesses and diseases.

But due to our disability, some unusual features of PWS require special attention. The health issues caused by the disability may not always be evident to those who have little experience of the syndrome, or when the unusual features cause a subtle or mild presentation and hence more difficult to identify.

Please remember that we are all individuals. Issues can vary considerably between us. The person living with PWS may not experience all the characteristics of this multi-system, multi-stage syndrome. But as time goes by, carers will be able to identify which of the health issues below are important in your person’s journey.

These PWS-specific features and some common health issues are below.

Food seeking

If left unsupervised, some of us who are struggling with our hyperphagia may consume life-threatening amounts of food.

A dramatic weight increase within a day – especially if coupled with reports of stomach distress or vomiting – may be a sign that we are severely ill. Loss of appetite can also be a sign of illness. Stomach rupture is possible. Diarrhoea or significant fluid retention are also reasons for concern. See also gastric problems below.

Some of us may be quite indiscriminate in what we eat, eg. poisonous berries, out-of-date food, frozen food, food from waste bins or off the ground. Some are so overcome by hyperphagia that they might eat large quantities of items like salt or shampoo, though this is not common.

The lack of a vomit reflex (see below) may mask or hide the fact that we have ingested inappropriate items.

Vomiting/abdominal pain

Individuals living with PWS do not commonly exhibit a vomiting reflex. If we suddenly report abdominal pain or bloating, are vomiting, or have abdominal distension, there may be life-threatening digestive problems.  It also may be a warning that we have ingested a large amount of food. Emergency investigations and surgery may be needed. In either case, death can occur in hours.

Recent reports have highlighted deaths due to “binge-eating”, especially when we usually have our food intake well controlled and do not have a significant weight problem. Lack of vomiting cannot be taken as a sign that little is wrong with us. (See also the section on Temperature below).

Severe gastric illness

People living with PWS can have constipation needing attention. But 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 and 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 tool/flow chart in our Medical Alert Booklet on our PWSA website 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 people living with PWS and can be more life threatening than in a typical situation. A person when diagnosed with gastroparesis may need hospitalisation. Eating while the stomach is distended with gastroparesis can be very dangerous.

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). For more about this refer to ‘Healthcare in PWS 13 – 18 years’.

Skin lesions/oedema/cellulitis

A common challenge for many of us living with PWS is skin-picking, which may seriously worsen at this age, and can be exacerbated by anxiety. The article ‘Understanding and supporting mental wellbeing 18-25 years’ gives information about how the right support can lessen skin-picking. It is important to monitor any wounds for infection and obtain appropriate treatment from your GP if this occurs.

Swelling of the legs and feet (oedema) or lymphoedema (fluid in the limbs, usually legs and feet), can be common in PWS, especially in those of us who are overweight. However, it can also occur in those who are not significantly overweight. Treatment is usually by bandaging the legs and/or wearing special support stockings.

Sometimes the skin can get infected, and cellulitis (inflammation and infection) can occur. This requires immediate treatment to prevent septicaemia.

Respiratory problems/Obstructive sleep apnoea

Excessive weight in addition to the hypotonia often experienced by adults living with PWS can lead to serious respiratory problems.

Sleep apnoea (where the person momentarily stops breathing while asleep) is common and may also occur in those who are not seriously overweight. If sleep apnoea is suspected, alert your doctor because this will require further specialist investigations and treatment as appropriate.

If the person living with PWS needs a CPAP machine, be sure that NDIS protocols for correct use are followed by support workers.

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 vomiting reflex makes it more challenging to identify in a person living with PWS. There is a risk of choking when we try to eat food quickly, either because we habitually do this, or because we are trying to disguise the fact that we eating when we shouldn’t.

Encourage us to eat slowly and chew food properly before swallowing. Some families and support workers encourage the ‘chew chew sip’ approach, ie. encourage small sips of water during eating to improve oesophageal emptying. Research has shown that some people have problems with swallowing (dysphagia) that can go undetected. Testing may be needed.

Excessive fluid intake

There have been a few reports of people living with PWS drinking excessive amounts of fluid, leading to potentially fatal low sodium and potassium levels. This is sometimes referred to as ‘water intoxication’. Support may be needed to help these individuals manage their liquid intake.

Risk of Pneumonia

People with PWS may be more liable than the general population to pneumonia, which can have a very sudden onset and sometimes prove fatal. Adults should be offered appropriate vaccinations.

Bruising

Many of us bruise easily but, because of the high pain threshold, we may not remember the cause so be unable to say how we came by the bruise. Hence the presence of a bruise should alert you and your support team to actively look for any other signs of an injury.

Vaccinations

Unless your GP or consultant advises otherwise, you can receive all the usual vaccinations against disease, including flu, COVID, papilloma virus and pneumonia – there are unlikely to be any side effects from these, other than those usually experienced.

Body temperature

Adults living with PWS may have below-normal temperatures at times. They may not have a high temperature even when seriously ill. Even slight temperature elevations should be considered as a warning sign and to cue to observe the person in your care closely for any other symptoms or changes. If in doubt, ask the doctor for an examination. It is also a good idea to ask your doctor to make a note of the patient’s temperature when they are healthy so that you have a base line guide for variations.

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. Therefore, if we show symptoms that we are out of the ordinary, it is also a good idea to have us checked over.

  • All known injuries must be assessed for more serious problems, and signs of unreported injuries should be sought.
  • Following a significant fall or other injury, we should be closely monitored for a change in posture, walking or movement of limbs.
  • In the absence of a verbal complaint of pain, other symptoms of specific injuries should be evaluated. Observe for deformities, swelling or bruising as these may indicate an undetected broken bone or fracture. There have been several reports of individuals with PWS who have broken bones which have not been immediately identified, due to the person’s high pain threshold.

Sexual development

In most cases, full sexual development does not occur in either men or women living with PWS. Women may not experience the onset of periods and breast development may be slow. Men’s voice may not break, and facial hair can be very scanty. Sex hormone treatment will help with these issues and specialist input from an endocrinologist should be sought.

Whilst infertility is generally thought to be the norm, there have been at least four reports worldwide of women with PWS having a child (which, if the woman has the deletion form of PWS, has a 50-50 chance of being born with Angelman syndrome). There are no reports of a man with PWS fathering a child.

There is currently very little known about whether people with PWS are affected by the menopause, but as more women with PWS reach and pass middle age, our knowledge about this is likely to increase.

Obesity-related complications

There are many health problems caused by obesity. These are detailed separately in this article. They include:

  • Sleep apnoea and breathing difficulties
  • Congestive heart failure
  • Pulmonary hypertension
  • Fluid retention
  • Diabetes

Supporting us in maintaining a good and pro-active diet, together with enabling regular physical activity, can help prevent obesity. It also stops obesity related problems getting worse. It is extremely important to have regular weigh-ins (eg. weekly, or sometimes daily if binge eating is a known risk) to ensure weight is within the normal range. Data and evidence will help to inform which measures to put in place if our weight starts to creep up.

Regular checks to exclude diabetes and high blood pressure should be in place for all adults living with PWS.

Mental health challenges

Some adults living with PWS may also experience mental health challenges. Researchers have found that those living with the disomy type of PWS are more liable to these problems, although they can still be found in those with the deletion type. Mental ill health can include: depression, severe anxiety, lethargy, visual and auditory hallucinations (seeing things that are not there and hearing voices), and acute psychotic episodes. Professional psychiatric help should be sought in these cases.

Annual health checklist for people living with PWS

Prader-Willi Syndrome has a few characteristics and potential health problems which may not be included within the framework of a standard annual health check for adults with learning disabilities. These are:

  • Weight
  • Sleep apnoea (obstructive, central, or mixed) – even where obesity is not a problem
  • Blood pressure
  • Cholesterol levels
  • Scoliosis, kyphosis
  • Osteoporosis (in both males and females, at young age)
  • Oedema
  • Cellulitis
  • Hypothyroidism
  • Gastroparesis
  • Diabetes (type 2)
  • Skin infections (due to skin-picking)
  • Vitamin D deficiency
  • Dental
  • Heart

A more detailed Good Health Checklist for PWS has been produced by the International Prader Willi Syndrome Organisation (IPWSO).

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.

Individuals living with PWS are probably more likely that 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. Symptoms of low cortisol include tiredness, low blood pressure, episodes of low glucose or fainting.

Sleep disturbance

Sleep disorders can impact behaviour, cognition, and quality of life and health for individuals with PWS. Due to hypothalamic dysfunction, people living with PWS have intrinsic abnormalities of sleep/wake cycles. Poor quality night-time sleep can have adverse consequences on mental health, diabetes, irritability, daytime sleepiness and the ability to function effectively in daily living and community.

Research suggests disordered sleep is a significant burden for individuals with PWS and often overlooked. The paper Diagnosis and management of sleep disorders in Prader-Willi syndrome explains different aspects.

A Sleep Problems in Prader-Willi Syndrome article has been produced by PWS USA.

A Sleep Hygiene Plan may be of benefit, to make sure that support workers provide optimum conditions for a good night’s sleep. A CPAP machine may be funded by the NDIS.

Life expectancy

Early death because of morbid obesity is not uncommon, and unfortunately can occur in young adults. However, with supported access to food, the person can live well into middle age and beyond.

The oldest known person with PWS lived to the age of 74 – she had lived in an institution for the greater part of her life.

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 considered. These include:

  • Obesity (may be associated with obstructive sleep apnoea, high blood pressure, poor breathing pattern (hypoventilation) 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. The anaesthetist or health professional should assume that the patient 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 and PWS is on the PWS USA site.

Information for hospitals and GPs

Further information to give to hospitals and GPs is on the PWSA website.

Anaesthesia in PWS is discussed on the rare diseases website.

Published research:

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

PWS Specialist Clinics

Dedicated PWS adult services are hard to find in Australia, however, you can try:

  • Morbidity and Obesity Services and Prader-Willi Syndrome Clinic, Royal Prince Alfred Hospital, Sydney
  • Clinical Nutrition Unit, Monash Medical Centre, Melbourne
  • Weight Control Clinic, Austin Health, Melbourne

Disclaimer: The content on this website is for information only. Everyone is an individual and needs to seek their own advice from relevant professionals. The PWS Australia website will offer resources from, and links to other organisations. These are for information only and are not endorsements.

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.

Get in touch

We welcome enquiries about anything related to PWS. This could be about the changes through the life stage of living with PWS, individual needs, services, getting help or interacting with the NDIS, the Quality and Safeguards Commission or the AAT.

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