What is Prader-Willi syndrome?
Prader-Willi syndrome is a rare condition when some of your genetic information on chromosome 15 is missing. It’s present from birth and can affect males and females of all ethnicities. People with Prader-Willi syndrome are normally diagnosed soon after birth or in early childhood.
What are the symptoms of Prader-Willi syndrome?
Symptoms are different in each person, but typical symptoms include:
Excessive hunger and overeating
Shorter than normal height
Low muscle tone – babies may be ‘floppier’ than usual at birth
Mild to moderate learning difficulties
Incomplete sexual development
Emotional and social immaturity that can cause behavioural difficulties
Skin picking that can cause sores, scarring and infection
At the beginning of life, babies may have some feeding difficulties. As they grow up, their appetite typically grows significantly. People with Prader-Willi syndrome can still feel hungry after they’ve eaten enough food. If appetite isn’t managed, it can lead to obesity.
Children with Prader-Willi syndrome can have difficulties managing their emotions, which can lead to emotional distress.
Adults with Prader-Willi syndrome can live independent lives. While most people will still need the right support and care, they can still work and have active social lives.
How common is Prader-Willi syndrome?
Prader-Willi syndrome occurs in about 1 in every 10,000–30,000 births. In the UK there are about 2,000 people living with Prader-Willi syndrome and between 350,000 to 400,000 people worldwide.
What causes Prader-Willi syndrome?
Prader-Willi syndrome occurs by chance when some of the genetic information on chromosome 15 is missing. There is nothing a parent could do to cause or prevent it from happening.
Human cells have 46 chromosomes, organised into 22 pairs and the sex chromosomes, X and Y. Prader-Willi syndrome occurs when a part of chromosome 15 is either not present or not working.
How is Prader-Willi syndrome diagnosed?
After birth, health care professionals may notice typical signs of Prader-Willi syndrome, particularly floppiness. A doctor will evaluate the child and if Prader-Willi syndrome is suspected, a sample of blood is taken and analysed in a lab to look for missing DNA.
Receiving a new diagnosis of Prader-Willi syndrome in your child can feel overwhelming. The Prader-Willi syndrome association has lots of resources and support for parents who have received a new diagnosis for their child.
How is Prader-Willi syndrome managed?
There is currently no cure for Prader-Willi syndrome, but your child will have support from your local child development team and a paediatrician.
Here are some examples of how common problems can be managed:
Feeding support for babies: Babies with Prader-Willi syndrome may need a feeding tube that goes up the nose and into the stomach. This may need to be in for a few months until they can feed from a bottle or breast. You will be supported by dieticians and feed specialists.
Exercise: Encourage short and regular activities. People with Prader-Willi syndrome may experience low energy levels, so doing 5-10 minutes of exercise at a time can help. Your care team can help to recommend a suitable exercise plan.
Hormone treatments: Children can be given human growth hormone. This can make them grow taller and develop more muscle mass which can help with exercise.
Managing skin picking: It’s important to keep nails short, wear long clothes, and spot infections early for antibiotic treatment. Therapy and antidepressants can also help in older children.
Managing weight and diet: This is very important when caring for someone with Prader-Willi syndrome and can be one of the biggest challenges. You can access lots of support and advice from experts and charities to help with this. Some general advice includes:
Follow a healthy balanced diet with regular mealtimes from an early age
Avoid sweets, sugary items, and high-calorie snacks
Serve small portions of carbohydrates like pasta, rice, and bread
Increase vegetables, salads, and fruits
Avoid eating food outside of mealtimes, potentially by locking cupboards, fridges, and bins if needed
The Prader-Willi syndrome association has lots of detail on their website about support you can give your child and how this will change as they grow up.
Life expectancy for Prader-Willi syndrome
Sadly, people with Prader-Willi syndrome have a reduced life expectancy. The average life expectancy is 30 years, but people have been known to live into their 60s.
When should I speak to a doctor?
Once diagnosed, you should be connected with a care team who will see you regularly. If you are worried about any symptoms in your child or changes then it is important that you call your GP or your care team immediately for advice.
If you suspect your child may have Prader-Willi syndrome you can see a doctor who will be able to assess the need for further testing.
FAQs
Prader-Willi syndrome (PWS) is a complex, multisystem disorder characterized by neonatal hypotonia with poor suck and poor weight gain without nutritional support, developmental delay, mild cognitive impairment, hypogonadism leading to genital hypoplasia and pubertal insufficiency, short stature if untreated with ...
What is the life expectancy for Prader-Willi syndrome? ›
What is the life expectancy for someone with Prader-Willi syndrome? The median age of death for a person with PWS is ages 30 years . A 2022 review of studies on morbidity and mortality found that the average age of death may be closer to 21 years old.
What are the behaviors of Prader-Willi syndrome? ›
A classic sign of Prader-Willi syndrome is a constant craving for food, resulting in rapid weight gain, starting around age 2 years. Constant hunger leads to eating often and consuming large portions. Unusual food-seeking behaviors, such as hoarding food, or eating frozen food or even garbage, may develop.
What is the life like of someone with Prader-Willi syndrome? ›
Most adults with Prader-Willi syndrome are not able to live fully independent lives, such as living in their own home and having a full-time job. This is because their challenging behaviour and issues with food means these environments and situations are too demanding.
Can you develop Prader-Willi syndrome as an adult? ›
With the advancement of medical care, the survival of most patients with syndromal genetic disease is greatly improved. In this case report, we have reported an adult Prader-Willi syndrome patient who is being diagnosed at the age of 33.
What famous person has Prader-Willi syndrome? ›
Harvey Price, the eldest son of celebrity Katie Price, is probably the most famous person who suffers from Prader-Willi Syndrome (PWS), a condition that occurs randomly in about 1 in 22,000 births.
Can people with Prader-Willi have kids? ›
It's almost unknown for either men or women with Prader-Willi syndrome to have children.
Do people with Prader-Willi syndrome look different? ›
Additional features of this condition include distinctive facial features such as a narrow forehead , almond-shaped eyes, and a triangular mouth; short stature; and small hands and feet . Some people with Prader-Willi syndrome have unusually fair skin and light-colored hair .
Why do people with Prader-Willi syndrome eat so much? ›
Excessive orexin stimulation in the hypothalamus, as well as the VTA and NA contribute to hyperphagia by increasing the reward value of food in patients with PWS. Thus, the insatiable appetite and unusual eating-related problems exhibited by PWS patients indicate abnormalities in the orexin system.
How does a person with PWS think? ›
Many individuals with PWS have a delay in processing information. This delay in processing can lead to confusion, misunderstandings, increased anxiety, and unwanted behaviors, especially if the person with PWS is feeling rushed.
Children with Prader-Willi syndrome are delayed in all aspects of development, reaching developmental milestones – such as sitting, crawling and walking – later than other children. The average IQ of a child with Prader-Willi syndrome is around 70, but the degree of intellectual disability will differ for each child.
Can people with PWS lose weight? ›
Additionally, weight loss has been documented in children with PWS by restricting their caloric intake to 7 kcal per cm per day.
Is Prader-Willi syndrome a type of autism? ›
Prader-Willi Syndrome is a disorder which is sometimes associated with, but not a subtype of, autism. The classical features of this disorder include an obsession with food which is often associated with impulsive eating, compact body build, underdeveloped sexual characteristics, and poor muscle tone.
What are the 5 primary signs of Prader-Willi syndrome? ›
Typical symptoms of Prader-Willi syndrome include:
- an excessive appetite and overeating, which can easily lead to dangerous weight gain.
- restricted growth (children are much shorter than average)
- floppiness caused by weak muscles (hypotonia)
- learning difficulties.
- lack of sexual development.
Both can also result from a structural abnormality of the imprinting center, known as an imprinting mutation. In addition, Angelman syndrome can be caused by a mutation in the gene that causes it; a comparable cause is not present in Prader-Willi syndrome since it results from abnormality in more than 1 gene.
What causes death in Prader-Willi syndrome? ›
Deaths in childhood are more likely due to respiratory failure, aspiration, infection and choking rather than obesity related factors. Cardiac disease, pulmonary embolism, accidents, sepsis, and obesity-related complications were primarily seen in adolescents and adults.
What are the causes of death in Prader-Willi syndrome? ›
Deaths in childhood are more likely due to respiratory failure, aspiration, infection and choking rather than obesity related factors. Cardiac disease, pulmonary embolism, accidents, sepsis, and obesity-related complications were primarily seen in adolescents and adults.
Is Prader-Willi's life limiting? ›
If their diet is well controlled and they do not become overweight, adults can have a good quality of life and probably a normal life expectancy. Many adults with Prader-Willi syndrome take part in activities such as voluntary or part-time work but it's unlikely they'll be able to live fully independent lives.
Are people with Prader-Willi syndrome aggressive? ›
Often emotional behaviours, such as crying and emotional vocalisations occur early in an outburst sequence, and are followed by quickly rising anger and more overt behaviours such as aggression.
