Prader-Willi Syndrome Symptoms, Causes, Diagnosis, Treatment

Prader-Willi Syndrome (PWS) is the most common genetic disorder causing severe obesity in children. It affects many aspects of a person's life, including eating habits, behavior, mood, physical growth, and intellectual development.

What is Prader-Willi Syndrome?

Prader-Willi Life Expectancy

Prader-Willi Syndrome Symptoms

During Infancy:

• Weak cry and lethargy (constant tiredness)
• Poor feeding ability and weak muscle tone (hypotonia)
• Distinct facial features like almond-shaped eyes and a triangular mouth
• Short stature and small hands and feet
• Underdeveloped genitals in males and females

From Early Childhood to Adulthood:

• Intense food cravings lead to rapid weight gain
• Underdeveloped sex organs and delayed puberty
• Stunted growth and physical development
• Cognitive impairment ranging from mild to moderate intellectual disability
• Delayed motor skills development and speech difficulties
• Behavioral challenges such as stubbornness and obsessive-compulsive behaviors
• Sleep disorders, including disruptions of the sleep cycle and sleep apnea
• Other physical symptoms like scoliosis, hip problems, and vision issues

Prader-Willi Syndrome Causes

Prader-Willi Syndrome Facial Features

• Almond-shaped eyes,
• a narrow nose bridge,
• a narrowed forehead and
• a thin upper lip with an upturned mouth.

• low birth weight,
• weak muscles (hypotonia),
• underdeveloped sexual organs (hypoplasia),
• fair complexion (hypopigmentation),
• crossed eyes (strabismus),
• short stature due to low human growth hormone levels, and
• a tendency toward obesity due to excessive eating (hyperphagia) and poor muscle tone.

How is PWS Diagnosed?

Prader-Willi Syndrome Treatment

• Children with Prader-Willi Syndrome (PWS) may have difficulty eating and can gain weight rapidly. Babies might need special feeding methods or special formulas to help them grow. As they age, it's important to have structured meal times and limit access to high-calorie snacks to prevent them from overheating.
• Some children with PWS might have low levels of growth hormone, which can affect their growth and muscle tone. Doctors can give them extra growth hormone through injections to help them grow and develop better muscles. They might also need hormone replacement therapy when they reach puberty to help their bodies develop properly.
• Children with PWS need to eat less than other kids because they gain weight very easily. Dietitians can help plan healthy meals with fewer calories. It's also important for them to do activities that make them move around more to stay healthy.
• Some kids with PWS have trouble sleeping, which can make them tired and grumpy during the day. Doctors can help treat sleep problems so they can feel better and behave better.
• Children with PWS might need different kinds of therapy to help them learn and grow. Physical therapy helps them get stronger and move better. Speech therapy helps them learn to talk better. Occupational therapy helps them learn everyday skills like dressing themselves or using utensils. Developmental therapy helps them learn how to behave like other kids their age.
• Kids with PWS might have trouble controlling their behavior, so parents need to set rules and limits. Sometimes, they might need medicine to help them behave better.
• Some children with PWS might have other problems, like feeling sad or anxious. Doctors can help them feel better by talking to them and sometimes giving them medicine.
• Kids with PWS might need to see different kinds of doctors for other health problems like problems with their eyesight or their thyroid. It's important to check for these problems regularly.