Information for Social Workers and Care Managers 

Prader-Willi Syndrome (PWS) is a rare lifelong genetic condition which is present from birth. Caused by an abnormality on chromosome 15, it affects the functioning of the hypothalamus. Main characteristics of the syndrome are: 

  • Hyperphagia (excessive appetite, overeating) – beginning around 2 -4 years.
  • Hypotonia (low muscle tone) – from birth.
  • Hypogonadism (immature sexual development)– from birth.
  • Short stature, compared with other family members.
  • Immature emotional and social development.
  • Learning disabilities ranging from severe to borderline.
  • Behaviours of concern, ranging from mild to severe (regardless of whether or not they have a learning disability). A significant number of individuals with PWS also have a diagnosis of Autistic Spectrum Disorder or Attention Deficit Disorder.
Treatment and management of PWS
  • Currently no cure or medication to treat the excessive eating and food-seeking which is one of the major characteristics of the syndrome.
  • Low muscle tone, means that a child or adult with PWS needs just 60% of the recommended calorie intake for someone of the same age to maintain a healthy weight.
  • Excess calorie intake can quickly result in significant and life-threatening obesity.

Currently the only way to prevent life-threatening obesity in PWS is to control access to food and support the person to keep to a lower calorie diet – not easy when the person is hungry most of the time. Deaths at a very early age from obesity-related complications are unfortunately not uncommon. 

Behaviours of concern are common in both children and adults. Typical behaviours are: 

  • Emotional meltdowns, sometimes including aggressive verbal or physical assaults.
  • Food seeking and/or stealing.
  • Stubbornness and resistance to change, argumentativeness.
  • Perseveration (asking the same question, or reverting to the same subject over and over again.
  • Compulsive behaviour and insistence on routine.
  • Attention-seeking and manipulative behaviour.
  • Skin-picking.
  • Lying and blame-shifting.

In teenagers and adults with PWS, mental health problems also emerge. 

Families 

Studies carried out on the effect of PWS on families have revealed the following: 

  • Significant stress levels affecting all members of the family – even more than those which affect other families with a child or adult with special needs.
  • Families with children with PWS showed poorer perceived quality of life.
  • Families with children with PWS have difficulties in family functioning, communication problems, and an increased number of conflicts.
  • Families appeared to be experiencing significant behavioural distress symptoms, with higher than average levels of depression and feelings of isolation, anger and worry.
  • Ninety-two per cent of siblings indicate moderate-to-severe symptoms of PTSD. 
Adults with PWS
  • Some appear more able and articulate than is actually the case.
  • Will tell outsiders that they know all about diet and are able control their own food intake.
  • Some have been placed in supported living with minimal support hours, or even in an independent situation, with a subsequent life-threatening weight increase, vulnerability to exploitation from members of the public, and fatality.
  • A Mental Capacity Assessment should be carried out to limit the person’s access to food, and it is not unusual for this to go to the Court of Protection.
  • In cases known to PWSA UK, it has been deemed the person does not have capacity around food.
  • Rare to be in full time employment.
  • Prone to emotional meltdowns, sleepiness and food seeking/stealing. 

Several organisations specialise in providing residential care and supported living for those with PWS, with particular emphasis on limiting access to food, calorie-controlled diets, and management of behaviours of concern. Funding is sometimes provided via joint health and social services funding and, occasionally, where other issues may be present, by health funding only, but generally funding is provided by social services. The PWSA UK maintains a list of specialist providers, but does not make recommendations – contact us for a copy of this list. 

Unusual features and potential risk factors in PWS 
  • Body temperature abnormalities.
  • High pain threshold.
  • Lack of vomiting.
  • Skin-picking.
  • Easy bruising.
Life expectancy and causes of death

Life expectancy of people with PWS is shorter than the general population.

Causes of death:

  • Obesity
  • Septicaemia (cellulitis, skin-picking)
  • Pneumonia (often sudden onset)
  • Choking
  • Stomach necrosis
  • Cancer (relatively rare, although increasing as life expectancy increases)

A study in the USA found that 77.9% of deaths were unexpected, and 72.1% were sudden. This may relate to the high pain threshold common in PWS, meaning they do not experience or report severe symptoms until it is too late.

Safeguarding

If you are investigating a safeguarding case, we are always happy to provide advice about the phenotypes associated with PWS. These can include: 

  • Confabulation – taking little pieces of information and creating a whole picture. Because the person with PWS is assembling this information into a story, it is their belief that it is entirely true. We strongly recommend reading Famcare: Confabulation/Story telling, available from www.ipwso.org.
  • Perception of care - Adults with PWS need a high level of support to be able to live fulfilled lives, and their perception of the level of support they believe they need is often different to the levels of support that they actually need

Those with PWS are particularly vulnerable to exploitation and abuse, and every safeguarding issue must be investigated fully. 

Further information 

PWSA UK has a wide range of information and knowledgeable staff who can help with enquiries.

Training is also available to organisations working with people with PWS.