What is Prader-Willi Syndrome?

Prader-Willi Syndrome (PWS) is a rare and complex genetic condition that affects many parts of the body. Some studies show that between 1 in 15,000 to 25,000, children are born with PWS. It affects people of all races and sexes equally.

Prader-Willi syndrome leads to a wide range of physical symptoms, learning disabilities and behavioural challenges. Symptoms are usually noticed shortly after birth and then confirmed through genetic testing. Due to the rarity of PWS, many parents of newly diagnosed children and even physicians and caregivers may be unfamiliar with this syndrome and its symptoms.

Although there is no cure for Prader-Willi syndrome, with the right support in place adults with PWS can live purposeful and independent lives. Many adults with PWS choose to leave home and live in residential care or supported living homes where trained and committed staff are there to provide support in managing their condition.

What are the Causes of Prader-Willi Syndrome?

Prader-Willi syndrome is a genetic disorder meaning it is caused by an abnormality in one or more genes. Although the exact mechanisms responsible for Prader-Willi syndrome haven’t been identified, we do know the problem lies in a particular region of chromosome 15.

A person has 2 copies of all their genes, which means chromosomes come in pairs. Normally, people inherit one copy of chromosome 15 from their mother and one from their father. Prader-Willi syndrome occurs when one of the chromosomes that belong to pair number 15 is different in some way.

In around 70% of cases, Prader-Willi syndrome occurs when there is some missing genetic information from the copy of chromosome 15 inherited from the father. This is referred to as “paternal deletion”.

Although much rarer, PWS can also occur when:

  • The child inherited two copies of chromosome 15 from the mother and no chromosome 15 from the father,
  • There is some error or defect in paternal genes on chromosome 15.

Paternal deletion is thought to happen entirely by chance. Since this form of Prader-Willi syndrome is caused by a random genetic error, it is not an inherited condition. However, if PWS is caused by a different type of change with chromosome 15, there’s a very small chance a family could have more than one child born with the syndrome.

Understanding the Connection between Prader-Willi and Brain Function

It is thought that problems with chromosome 15 disrupt the development and functioning of part of the brain called the hypothalamus, although the mechanism through which it occurs is not entirely understood.

The hypothalamus plays an important role in many of the body’s functions, such as producing hormones and helping regulate appetite. Many PWS symptoms such as delayed growth and persistent hunger may be caused by a malfunctioning hypothalamus.

Research using brain imaging technology has shown that those with the syndrome have high levels of activity in the frontal cortex, a brain area linked to pleasure and satisfaction after eating.

It’s possible that eating is highly rewarding for them, or that their hypothalamus is unable to accurately gauge their body’s food levels, leading to constant hunger and other difficulties.

What are the Symptoms of Prader-Willi Syndrome?

The signs and symptoms of Prader-Willi will vary greatly between individuals and can affect a person’s physical, psychological and behavioural development. Symptoms often start in childhood and remain throughout life.

In adults, some of the most common symptoms of Prader-Willi Syndrome include:

  • Increased appetite and food cravings
  • Hypotonia (low muscle tone)
  • Learning disabilities and developmental delays
  • Short stature, often due to growth hormone deficiency
  • Obsessive or compulsive behaviours such as skin picking
  • Hormone differences, including hypothyroidism and hypogonadism
  • Behavioural challenges such as difficulty controlling emotions
  • Sleep disorders

Managing Prader-Willi Syndrome

While there is no cure for Prader-Willi syndrome, there are treatments available that can help manage symptoms and associated difficulties. Early diagnosis and treatment can greatly improve the quality of life for people with PWS.

Treatment for PWS will vary based on the individual’s symptoms, but generally, infants with PWS may need good nutrition, exercise and special feeding methods to help them gain weight. Children may also need human growth hormone (HGH) treatment, which helps increase growth, improves muscle tone and decreases body fat.

Both adults and children with PWS may benefit from a very structured environment and daily routine. Support from a multi-disciplinary team is often needed to create a structured plan of support designed to help improve the daily lives of people with PWS.

As adults, many people with Prader-Willi syndrome may have difficulties living independently in their own homes or being employed full-time. To enjoy greater independence and autonomy, some adults with PWS could benefit from the structured environment of a residential or supported living home.

What is important to remember is that with the right support systems in place, people with PWS can achieve their goals, enjoy active social lives and live happy, purposeful lives.

If you’re looking for more information on managing the symptoms of PWS, the NHS has a practical guide for families on managing the symptoms of PWS in both children and adults.

Where Can I Learn More?

The Prader-Willi Syndrome Association UK provides information and support for people whose lives are affected by the syndrome. You can call the PWSA UK helpline on 01332 365676.

The International Prader-Willi Syndrome Organisation also provides a wealth of free resources for families, health professionals and caregivers. You’ll find useful guides, the latest scientific and medical research and information to help families manage PWS.

Person-centred Support for Prader-Willi Syndrome

Here at Liaise, we provide a range of specialist support services designed to enhance the lives of people with autism, learning disabilities and complex or profound needs.

Through our supported living and residential care homes, we believe in creating safe and enriching, community-based homes where people can learn new skills, build meaningful relationships and reach their full potential.

We recognise that everyone with Prader-Willi Syndrome is unique and has their own preferences, abilities and challenges. This is why we tailor the support we provide to meet the individual needs of the people we support. For people living with Prader-Willi Syndrome, this includes helping them manage their symptoms and providing safe nutrition and hydration.

Our mission is to enrich the lives of people living with Prader-Willi Syndrome and enable them to lead happy and fulfilling lives. For more information on the specialist support services we provide, contact us on 0330 500 5050 or fill out our enquiry form.