Early diagnosis and treatment can improve the quality of life for people with Prader-Willi syndrome. A team of health professionals will likely work with you to manage the condition.
Your team may include a doctor who treats hormonal disorders (endocrinologist), behavior specialists, a dietitian, physical and occupational therapists, a mental health professional, a geneticist, and other specialists as needed.
Although specific treatments vary depending on symptoms, most children with Prader-Willi syndrome will need the following:
- Good nutrition for infants. Many infants with Prader-Willi syndrome have difficulty feeding due to decreased muscle tone. Your child's pediatrician may recommend a high-calorie formula or special feeding methods to help your baby gain weight and will monitor your child's growth.
- Human growth hormone (HGH) treatment. HGH treatment in children with Prader-Willi syndrome helps increase growth, improves muscle tone and decreases body fat. A doctor who treats hormonal disorders (endocrinologist) can help determine whether your child would benefit from HGH and discuss any risks. A sleep study is usually recommended before starting growth hormone treatment.
- Sex hormone treatment. Your endocrinologist may suggest that your child take hormone replacement therapy (testosterone for males or estrogen and progesterone for females) to replenish low levels of sex hormones. Hormone replacement therapy usually starts when your child reaches the normal age for puberty and can help reduce the risk of developing thinning of the bones (osteoporosis). Surgery may be needed to correct undescended testicles.
- Weight management. A dietitian can help you develop a healthy, reduced-calorie diet to help manage your child's weight while ensuring proper nutrition. A restricted-calorie diet may require supplemental vitamins or minerals to ensure balanced nutrition. Increasing physical activity and exercise can help manage weight and improve physical functioning.
- Treatment of sleep disturbances. Treating sleep apnea and other sleep problems can improve daytime sleepiness and behavioral issues.
- Various therapies. Your child will likely benefit from a range of therapies, including physical therapy to improve movement skills and strength, speech therapy to improve verbal skills, and occupational therapy to learn everyday skills. Developmental therapy to learn age-appropriate behaviors, social skills and interpersonal skills also may help. In the U.S., early intervention programs with these types of therapy are usually available for infants and toddlers through a state's health department. During school years, educational planning and support can maximize learning.
- Behavior management. Setting strict limits on behavior, schedules and access to food and strict supervision of food intake may be required. Some people may need medication to manage behavior problems.
- Mental health care. A mental health professional, such as a psychologist or a psychiatrist, may help address psychological problems — for example, obsessive-compulsive behaviors, skin picking or a mood disorder.
- Other treatments. These may include addressing specific symptoms or complications identified by eye exams for vision problems, tests for hypothyroidism or diabetes, and examinations for scoliosis.
Transition to adult care
Most people with Prader-Willi syndrome will need specialized care and supervision throughout their lives. Many adults with the disorder live in residential care facilities that enable them to eat healthy diets, live safely, work and enjoy leisure activities.
As your child approaches adulthood, consider these strategies:
- Find local resources and services for adults through your child's school and organizations such as the Prader-Willi Syndrome Association.
- Investigate guardianship issues, wills and special needs trusts that address future care and supervision for your child.
- Talk to your child's doctor for suggestions about making the transition to adult medical care.