Prader-Willi Syndrome: What is it and what are its impacts?

What is Prader-Willi Syndrome?

Prader-Willi Syndrome (PWS) is a rare genetic disorder caused by abnormalities on chromosome 15. It is characterized by the loss or inactivation of certain genes on this chromosome, either through deletion or improper expression of genes inherited from the parents.

The syndrome leads to a range of physical, mental, and behavioral issues that can affect individuals from infancy through adulthood. While symptoms may vary by individual and age, common features include persistent hunger, delayed physical development, and behavioral challenges.

Common health issues associated with Prader-Willi Syndrome:

• Feeding and weight problems: Individuals often experience an insatiable appetite, leading to excessive eating and rapid weight gain if not properly controlled.
• Growth issues: Children with PWS often show slow growth and shorter stature compared to peers.
• Cognitive challenges: Learning difficulties, poor concentration, and intellectual impairment are common.
• Sexual development disorders: There may be underdevelopment of secondary sexual characteristics and reduced interest in sexual activity.
• Dysfunction of vital systems: The syndrome affects brain and pituitary gland function, disrupting autonomic processes such as circulation and digestion.
• Sleep disorders: People with PWS often suffer from poor sleep quality, nighttime awakenings, and behavioral disturbances during sleep, negatively impacting health and quality of life.

While there is currently no cure for Prader-Willi Syndrome, early intervention and proper care can greatly improve quality of life.

Signs of Prader-Willi Syndrome Parents Should KnowInfancy (0-1 year)

Newborns with PWS often have weak muscle tone. Their arms and legs may appear floppy when lying down. Characteristic facial features may include almond-shaped eyes, downturned mouth, thin upper lip, and a narrow forehead.

Strabismus (misalignment of the eyes) may also be present, affecting vision.

Feeding difficulties are common, leading to poor weight gain. These infants may seem lethargic, difficult to awaken, and have weak crying. Responses to stimulation are typically delayed.

Ages 1 to 6 years

Many symptoms during this period may persist into adulthood, requiring long-term monitoring and care.

• Underdeveloped physique: Children may have low muscle mass but high body fat. Their hands and feet are often smaller than average. Even at full height, they may remain shorter than family members.
• Delayed motor skills: Sitting, standing, and walking milestones are often achieved later than average.
• Intellectual disability: Reasoning and problem-solving abilities are usually impaired.
• Hyperphagia and obesity: Persistent hunger leads to excessive eating. Children may hoard food or eat inappropriate items.
• Hypogonadism: Boys may have underdeveloped testes and lack hormone production. Girls may experience infertility, irregular or absent menstruation into adulthood. Males may not develop facial hair or a mature voice.
• Speech delay: Difficulty with articulation and sentence formation can continue into adulthood.
• Behavioral issues: Tantrums, stubbornness, and emotional outbursts are common. Some children show obsessive-compulsive behaviors.
• Sleep problems: Disrupted sleep and sleep apnea can lead to daytime fatigue. Obesity exacerbates sleep issues.
• Scoliosis: Spinal curvature may affect physical appearance and function.
• Hormonal disorders: These may include deficiencies in thyroid hormone, growth hormone, and adrenal insufficiency, reducing the body’s ability to respond to infection or stress.

Other concerns may include myopia, light-colored hair and skin, unexplained fevers or low body temperature. Skin picking behaviors can result in bruising or injury. Swallowing issues may cause choking without the ability to vomit.

Causes of Prader-Willi Syndrome

PWS is caused by genetic anomalies, particularly involving chromosome 15. These include deletions, uniparental disomy (two copies from one parent), or imprinting defects.

These defects disrupt the hypothalamus, the brain region that controls hunger, thirst, growth, and sexual development hormones. This explains the persistent hunger, slow physical development, and delayed sexual maturity seen in affected individuals.

What to Do if Your Child Has Prader-Willi Syndrome

If your child shows signs of PWS, consult a doctor as early as possible for timely intervention. Home care also plays a critical role and requires consistency and patience to support your child’s well-being.

Key tips for home care:

• Handle your baby with care: Infants with low muscle tone are at risk of slipping, so support their body securely when lifting.
• Encourage regular exercise: At least 30 minutes a day helps maintain healthy weight and physical development.
• Implement a healthy diet: Because of constant hunger and risk of obesity, offer low-calorie, nutritious meals. Lock food storage and portion meals carefully.
• Supplement with vitamins and minerals: Despite constant eating, nutritional deficiencies are common and should be managed under medical guidance.
• Set clear behavioral limits: Structure and consistency help children manage stubbornness and emotional regulation.
• Schedule regular medical checkups: This helps detect complications such as diabetes, osteoporosis, or scoliosis early.

Lifelong medical monitoring is often necessary. When your child reaches adulthood, speak with healthcare providers about transitioning to adult-focused care services.

Genetic counseling and prenatal care

PWS can significantly impact a child’s development and daily life. Families should seek genetic counseling if there is a concern about potential inheritance of the disorder.

Maintaining maternal and fetal health during pregnancy is also crucial. Families can consider enrolling in the Maternity Program at Hanoi French Hospital, which offers scientific and comprehensive prenatal, delivery, and postnatal care.

With a team of experienced obstetricians and specialists in maternal-fetal medicine, the program ensures optimal monitoring and peace of mind for expectant mothers.

Note: This article is for informational purposes only and does not substitute for medical diagnosis or professional advice. Always consult a reputable healthcare provider and follow your doctor’s instructions for health and safety.

We hope this article provides clarity on Prader-Willi Syndrome. With proper support and parental care, children with this condition can still lead healthy and happy lives. If you have questions, please contact us for further assistance.