Science Geek
Imagine a condition that affects nearly every part of a person’s life – from the way their body grows, to how they feel hunger, to how they learn. This is Prader-Willi syndrome (PWS), a rare genetic disorder that starts before birth and lasts a lifetime. But what exactly is Prader-Willi syndrome, how does it happen, and what does it mean for people who have it? Let’s take a closer look.
A Rare Genetic Difference
Prader-Willi syndrome is a genetic disorder, which means it is caused by changes in a person’s DNA. DNA is like a set of instructions that tells our bodies how to grow and function. In PWS, a small piece of DNA on chromosome 15 is missing or not working properly.
Most of the time, this problem happens by chance and is not inherited from a parent. It affects both boys and girls, and all races and backgrounds.
How Does PWS Affect the Body?
PWS affects many systems in the body. Babies with PWS are usually very floppy (with low muscle tone, called “hypotonia”), have trouble feeding, and may grow slowly. But as children with PWS get older, something surprising happens: they begin to feel constantly hungry; even after eating. This is called hyperphagia.
Because they don’t feel full, people with PWS can easily overeat, leading to obesity and related health problems if their food is not carefully managed.
Other features of PWS can include:
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Shorter height than average
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Small hands and feet
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Learning difficulties or intellectual disability
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Behavioral challenges (such as stubbornness or outbursts)
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Sleep problems
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Hormone imbalances (which can affect growth and puberty)
What Causes Prader-Willi Syndrome?
PWS is caused by a problem with certain genes on chromosome 15 – specifically, the section of the chromosome that usually comes from the father. In most cases, this section is missing or turned off, so the instructions for certain body functions are lost.
Scientists are still learning about exactly how these missing instructions affect the brain and body, but one important area is the hypothalamus, a part of the brain that controls hunger, growth, and hormones.
How Is PWS Diagnosed and Treated?
Doctors can usually diagnose PWS with a blood test that looks for missing or inactive genes on chromosome 15.
There is currently no cure for PWS, but early diagnosis and support can make a big difference. Treatment usually involves a team of specialists to help with:
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Special diets and supervision to prevent overeating
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Hormone therapy to improve growth and muscle strength
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Physical, occupational, and speech therapy
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Learning support and behavior therapy
With the right help, people with PWS can live healthy, active lives and reach their unique potential.
Fascinating Facts About Prader-Willi Syndrome
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Rare, but worldwide: PWS affects about 1 in 15,000 to 1 in 20,000 people worldwide.
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Famous name: The syndrome is named after Swiss doctors Andrea Prader and Heinrich Willi, who first described it in 1956.
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Appetite control: People with PWS have a malfunctioning hunger “switch,” which is why controlling access to food and providing psychological support is so important.
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Unusual sleep patterns: Many people with PWS have trouble sleeping and may have sleep apnea.
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Social connections: Many families find support and friendship through PWS organizations and communities around the world.
Questions to Ponder
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Why do you think it’s important to diagnose Prader-Willi syndrome early in life?
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How might understanding the genetics of PWS help scientists learn about hunger and obesity in everyone?
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What kinds of support do you think would be most helpful for someone growing up with PWS?
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How can communities and schools help include and support people with Prader-Willi syndrome?
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What are some ways technology might help manage health challenges faced by people with PWS in the future?
Prader-Willi syndrome is a reminder of how complex our bodies, genes, and brains really are. Learning about conditions like PWS can help us be more understanding, curious, and supportive of everyone’s unique differences!
