Prader-Willi Syndrome

Diagnosis

Healthcare professionals typically suspect Prader-Willi syndrome based on characteristic symptoms. In most cases, the diagnosis can be confirmed through genetic testing. This blood test identifies changes in a child’s chromosomes that are consistent with Prader-Willi syndrome. Genetic testing is highly accurate and is considered the standard method for diagnosis.

Treatment

Early diagnosis and timely treatment can significantly improve the quality of life for individuals with Prader-Willi syndrome. Management usually involves a team-based approach tailored to the individual’s symptoms and needs.

A child’s care team may include an endocrinologist, behavior specialist, dietitian, physical therapist, occupational therapist, speech and language therapist, mental health professional, geneticist, and other specialists as required.

Key components of treatment may include:

• Good nutrition
  Many infants with Prader-Willi syndrome have feeding difficulties due to low muscle tone. Healthcare professionals may recommend high-calorie formulas or specialized feeding techniques to support weight gain. Growth and nutritional status are closely monitored.

• Human growth hormone treatment
  Human growth hormone therapy can help children with Prader-Willi syndrome grow taller, improve muscle tone, and reduce body fat. It may also be considered for adults. An endocrinologist can determine whether this treatment is appropriate and discuss potential risks and benefits.

• Sex hormone treatment
  Because of low levels of sex hormones, hormone replacement therapy may be recommended. This may include testosterone for males and estrogen with progesterone for females. Treatment typically begins around the usual age of puberty and can help reduce the risk of osteoporosis. Surgery may be needed to correct undescended testicles.

• Weight management
  A dietitian can assist in developing a healthy, reduced-calorie diet that supports proper nutrition while controlling weight. In some cases, vitamin or mineral supplements may be necessary. Regular physical activity and exercise help improve physical function and weight control.

• Treatment of sleep disturbances
  Addressing sleep apnea and other sleep-related problems can reduce daytime sleepiness and may improve behavior and overall functioning.

• Various therapies
  Children often benefit from multiple therapies, including physical therapy to improve strength and movement, speech therapy to enhance communication skills, and occupational therapy to support daily living activities. Developmental therapies may help with age-appropriate behavior, social skills, and interpersonal interactions. Early intervention programs are commonly available for infants and toddlers, and educational support during school years can aid learning.

• Behavior management
  Structured routines, clear expectations, and strict control of food access are important. In some cases, medication may be needed to help manage behavioral challenges.

• Mental healthcare
  Mental health professionals can help address conditions such as anxiety, mood disorders, obsessive-compulsive behaviors, or skin picking. Medications may be used when necessary to reduce symptoms.

• Other treatments
  Additional care may be needed to manage specific complications. This can include screening for vision problems or scoliosis and testing for conditions such as hypothyroidism or diabetes.

Transition to adult care

Many adults with Prader-Willi syndrome live in residential care settings where they can follow healthy diets, work safely, and participate in leisure activities.

As a child approaches adulthood, planning may include:

• Identifying local resources and adult services through schools and support organizations

• Addressing guardianship, wills, and special needs trusts to ensure long-term care and supervision

• Coordinating with healthcare professionals to smoothly transition from pediatric to adult medical care