Prader-Willi Syndrome: What It Is and How It Affects Children

Prader-Willi Syndrome is a rare genetic condition that affects many areas of a child’s development, from muscle tone and feeding in infancy to appetite, behaviour and learning as they grow. Although it is a lifelong condition, early support and the right interventions can make a remarkable difference to a child’s health, learning and emotional wellbeing. Understanding what Prader-Willi Syndrome is and how it affects children helps parents feel better prepared, more confident and more empowered to support their child’s needs.

What Prader-Willi Syndrome Is

Prader-Willi Syndrome, often shortened to PWS, is a complex genetic disorder that occurs when certain genes on chromosome 15 are missing or not working properly. These genes normally come from the father’s side, and when they are altered or absent, it affects how the brain develops and regulates important functions such as hunger, growth, hormones and muscle tone. PWS is considered rare, but it is well recognised by medical professionals. Children with PWS share common characteristics, yet the severity and combination of symptoms can vary widely.

How Prader-Willi Syndrome Develops

PWS is not caused by anything the parents did or didn’t do during pregnancy. It happens by chance through one of a few genetic changes:

• A missing section (deletion) on the father’s chromosome 15
• Both chromosome 15s are coming from the mother instead of one from each parent (maternal uniparental disomy)
• A rare imprinting error affecting how the genes function

These changes happen at conception and cannot be prevented. Knowing this often helps parents release feelings of guilt or self-blame.

Early Signs in Infancy

Prader-Willi Syndrome often becomes noticeable soon after birth. Common early signs include:

• Low muscle tone (hypotonia), which makes babies feel “floppy”
• Weak cry
• Difficulty feeding because sucking and swallowing are harder
• Poor weight gain in the first months of life
• Sleepiness or reduced alertness

Many babies with PWS need support with feeding, such as specialised feeding techniques or temporary feeding tubes. As they grow, strength and alertness usually improve with therapy and early intervention.

How Prader-Willi Syndrome Affects Children as They Grow

PWS affects several areas of development. Although every child is unique, there are predictable trends.

Appetite and Weight

One of the most well-known features of PWS is the shift in appetite regulation.

• Early on, babies may struggle to feed.
• Later in childhood, appetite often increases significantly.
• Children may feel hungry more often or have difficulty recognising when they are full.

This change in hunger can lead to rapid weight gain if not managed carefully. Because the part of the brain that regulates appetite is affected, strict food routines and supervision become essential. With structured support, many children learn healthy patterns.

Growth and Hormones

Children with PWS often have hormone-related challenges. These may include:

• Shorter height due to reduced growth hormone
• Delayed or incomplete puberty
• Differences in metabolism
• Lower muscle tone

Growth hormone therapy is commonly used and can help improve height, muscle strength, energy levels and overall physical development.

ALSO READ: Growth stunting and its effect on children

Learning and Behaviour

PWS can affect learning and behaviour, although abilities vary widely. Common areas include:

• Mild to moderate learning delays
• Difficulty with problem-solving or abstract concepts
• Strong long-term memory but challenges with short-term processing
• Frustration or emotional outbursts, often due to change or uncertainty
• Anxiety, which can increase rigidity in routines

Many children with PWS thrive with structure, visual schedules, and consistent routines. Behaviour specialists, occupational therapists and speech therapists often play a key role.

Emotional and Social Development

Children with PWS are often loving, affectionate, and eager to connect. They may also struggle with:

• Anxiety
• Difficulty adapting to change
• Social misunderstandings
• Sensory sensitivities

Supportive environments that prioritise patience, clear expectations and predictable routines help children feel safe and confident.

Physical Health

Other health considerations may include:

• Sleep disturbances or sleep apnoea
• Scoliosis or curvature of the spine
• Reduced muscle strength
• Thick saliva leading to dental issues
• Higher pain tolerance

Regular check-ups with specialists help manage these challenges early.

SOURCE: Cleveland Clinic Prader-Willi Syndrome

How Prader-Willi Syndrome Is Diagnosed

Diagnosis is usually made through a simple blood test shortly after birth or when symptoms become noticeable. Genetic testing confirms whether the chromosome 15 genes responsible for PWS are working properly. Early diagnosis allows families to access therapies and medical support sooner, improving long-term outcomes.

Treatment and Support

There is no cure for PWS, but early intervention and consistent support help children reach their full potential. Treatment plans often include:

• Growth hormone therapy to support physical development
• Physiotherapy to improve muscle strength
• Occupational therapy to build everyday skills
• Speech therapy for communication development
• Behaviour support to help manage transitions and emotions
• Nutritional guidance to manage appetite and maintain a healthy weight
• Regular medical monitoring for hormones, sleep and metabolism

A multidisciplinary approach ensures families receive holistic support.

CHECK OUT: The Role of Routine in Special Needs Parenting

How Parents Can Support a Child With PWS

Caring for a child with Prader-Willi Syndrome requires patience, structure, and teamwork. Some helpful strategies include:

• Creating predictable daily routines
• Using visual schedules or charts
• Keeping food environments structured and supervised
• Celebrating small achievements consistently
• Working closely with therapists and medical professionals
• Joining support groups to connect with other families

Parents also benefit from emotional support. Caring for a child with PWS can be rewarding but demanding, and it is essential to look after your own wellbeing too.

What the Future Looks Like

Children with PWS can live fulfilling, joyful lives with the right support. They often develop strong personalities, empathy and creativity. Advances in therapy, medical care, and early intervention have significantly improved outcomes in recent years. While challenges remain, especially around appetite and behaviour, many children thrive in structured, loving environments that help them grow with confidence.

Final Thoughts

Prader-Willi Syndrome is complex, but knowledge and support make a powerful difference. Understanding how it affects children physically, emotionally and socially helps parents feel more prepared and far less alone. With early diagnosis, supportive care and a strong team around them, children with PWS can continue to learn, grow, and experience a rich and meaningful childhood.

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