What is Prader-Willi Syndrome? What are the Causes, Symptoms and Treatment?

Prader-Willi syndrome is a complex genetic condition that affects many parts of the body. In infancy, this condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. From childhood, affected individuals develop an insatiable appetite leading to chronic overeating (hyperphagia) and obesity. You can find more information below.

What is Prader Willi syndrome?

Prader-Willi syndrome (PWS) ; It is a rare genetic disorder that results in a range of physical, mental and behavioral disorders. A key feature of Prader-Willi syndrome is a constant feeling of hunger that usually begins around age 2.

People with Prader-Willi syndrome constantly want to eat because they never feel full; This is called hyperphagia . At the same time, patients often find it difficult to control their weight. Many complications of Prader-Willi syndrome are due to obesity.

A well-trained team can significantly improve the quality of life of the person affected by Prader-Willi syndrome, while managing the symptoms of this complex disorder, reducing the risk of developing complications.

Causes of Prader-Willi syndrome

Prader-Willi syndrome is caused by a defect in a group of genes located on chromosome 15. This error causes a number of problems so that your brain; It is thought to affect the part of the hypothalamus that produces hormones and regulates growth and appetite. This may explain some of the typical features of Prader-Willi syndrome, such as delayed growth and persistent starvation.

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The genetic error is purely coincidental, and boys and girls of all ethnicities can be affected equally.

It is extremely rare for parents to have more than one child with Prader-Willi syndrome.

Prader-Willi syndrome symptoms

The symptoms of this genetic syndrome can vary from person to person. Symptoms can change slowly over time, from childhood to adulthood.

Symptoms in babies

Symptoms that may occur in infants from birth may include the following:

  • Poor muscle tone: The primary sign in infancy is poor muscle tone. ( hypotonia ; the condition of the muscle showing low resistance to movement) Babies’ elbows and knees may stretch out loosely instead of being fixed, and they may feel like a rag doll when held.
  • Different facial features: Children may be born with almond-shaped eyes, a narrowing of the head upwards, a mouth that is turned downward, and a thin upper lip.
  • Poor sucking reflex: Babies may have a weak sucking reflex due to decreased muscle tone. Poor sucking makes feeding difficult and can result in poor growth.
  • Weakness: An infant may appear unusually tired, respond poorly to stimulation (external stimulus), have trouble waking up, or may cry weakly.
  • Underdeveloped genitalia: Males may have a small penis and scrotum (the bag-like structure that contains the testicles). In women, the clitoris and labia (outer lip of the vagina) may be small.

Symptoms from early childhood to adulthood

Other features of Prader-Willi syndrome appear in early childhood, are persistent, and require careful management. These features may include:

  • Food craving and weight gain: A classic sign of this syndrome is a persistent craving to eat, resulting in rapid weight gain from about age 2 years.
  • Underdeveloped genitalia: A condition called hypogonadism occurs when these patients produce little or no sex hormones .
  • Poor growth and physical development: Insufficient production of growth hormone; can result in short adult height, low muscle mass and high body fat.
  • Cognitive impairment: Mild to moderate intellectual disability such as thinking, reasoning, and problem solving is a common feature of the disorder. Even those without intellectual disabilities have some learning problems.
  • Delayed motor development: Toddlers with Prader-Willi syndrome may develop later than other children in physical movements (for example, sitting or walking).
  • Speech problems: Speech is usually started late. Poor pronunciation of words can be an ongoing problem into adulthood.
  • Behavioral problems: Children and adults can be stubborn, angry, controlling or manipulative at times, and they may have mental health problems.
  • Sleep disorders: Children and adults with Prader-Willi syndrome can have sleep disorders, including sleep apnea , a condition in which breathing pauses during sleep, along with the disruption of the normal sleep cycle .
  • Other symptoms: These are; small hands and feet, curvature of the spine ( scoliosis ), hip problems, decreased salivary flow, myopia and other vision problems, problems affecting body temperature, high pain tolerance or lack of pigment.
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When should you see a doctor?

Regularly scheduled doctor checkups for the baby can help identify early signs of poor growth and development, which can be signs of genetic disorders.

How is Prader-Willi syndrome diagnosed?

Typically, it begins when doctors notice the signs of Prader-Willi syndrome, and tests are used to make an accurate diagnosis. A definitive diagnosis can almost always be made with a blood test. A genetic test can identify abnormalities in the chromosomes that indicate Prader-Willi syndrome.

Prader-Willi syndrome treatment

There is no treatment to definitively cure Prader-Willi syndrome, so treatment aims to manage the symptoms and associated problems. The treatment process includes managing the child’s excessive appetite and behavior problems.

One of the most important parts of caring for a child with Prader-Willi syndrome is trying to maintain a normal weight. The child needs to be fed a healthy, balanced diet, avoiding sweets and high-calorie substances from the very beginning.

If children are allowed to eat as much as they want; they quickly and dangerously gain excess weight. A child with this syndrome may eat 3 to 6 times more than other children of the same age and still feel hungry.

Limiting food intake can be overwhelming for families. Children may be abusive to get extra food, and their hunger may drive them to steal or hide food.

For more detailed information on the treatment of Prader-Willi syndrome, you can visit the relevant page at Mayo Clinic .

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