Prader-Willi syndrome

Diagnosis

Typically, doctors suspect Prader-Willi syndrome based on signs and symptoms. A definitive diagnosis can almost always be made through a blood test. This genetic testing can identify abnormalities in your child's chromosomes that indicate Prader-Willi syndrome.

Treatment

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.

Lifestyle and home remedies

Tips to help you take care of your loved one with Prader-Willi syndrome include the following:

• Learn about Prader-Willi syndrome. Managing hormone levels and weight can improve development and behavior and prevent complications. Work with your health care team to develop a plan of care for managing symptoms and addressing issues.
• Stick to a strict meal plan. Eating a low-calorie diet is essential to keep your child from becoming overweight. Structure mealtime and the type of food to help develop routines and to help your child understand expectations. Use small dishes for serving meals. To help prevent binging, avoid buying high-calorie snacks. Store food out of your child's reach. Lock pantries, refrigerators and cupboards.
• Encourage regular daily activity. Increasing physical activity and exercise can help manage weight and improve physical functioning.
• Set limits. Create a firm schedule and set expectations for managing behavior. If needed, talk to your health care team about ways to address problems.
• Schedule regular medical care. Talk with your doctor about a regular schedule of health appointments and tests to check for problems or complications related to Prader-Willi syndrome.

Coping and support

Having a child with Prader-Willi syndrome is challenging and can take a lot of patience. Managing eating problems, behavior and medical issues can impact the whole family.

Some options for coping and support can include:

• Talking to a mental health professional. If you're having trouble coping or feel overwhelmed, talk to a mental health counselor or therapist.
• Joining a support group. Some people find it helpful to talk with others who share similar experiences. Ask your health care provider about family support groups in your area. Organizations such as the Prader-Willi Syndrome Association provide resources, support groups and educational materials.
• Seeking other sources of support. Options for additional support can include asking about sources of respite care, asking for support from family and friends, and taking time for your own interests and activities.

Preparing for your appointment

You may start by seeing your family doctor or your child's pediatrician. He or she may refer you to a pediatric endocrinologist and other specialists as needed.

Here's some information to help you prepare for your appointment. Consider taking a family member or friend along for support and to help you remember information.

What you can do

To prepare for the appointment, make a list of:

• Any signs and symptoms your child has been experiencing, and for how long
• Your child's key medical information, including recent illnesses, medical conditions, and the names and dosages of any medications, vitamins, herbs or other supplements
• Questions you want to ask your doctor

Some basic questions to ask your doctor may include:

• What is likely causing my child's signs and symptoms?
• Are there any other possible causes for these symptoms?
• What kinds of tests does my child need?
• What treatment approach do you recommend?
• What are the expected results of treatment?
• What are the possible side effects of treatment?
• How will you monitor my child's health over time?
• What is my child's risk of long-term complications?
• Can you suggest educational materials and local support services?
• What services are available for early childhood development?

What to expect from your doctor

Your doctor is likely to ask you a number of questions. Be ready to answer them to reserve time to go over points you want to focus on. For example, your doctor may ask different questions depending on your child's age.

Questions about your baby:

• How often and how much does your baby eat?
• Does your baby have any problems sucking?
• How well does your baby wake up?
• Does your baby seem listless, weak or sick?

Questions about early childhood:

• How much does your child eat?
• Does he or she constantly look for food?
• Does your child eat any unusual items or steal or sneak food?
• Does your child show extreme stubbornness or throw tantrums?
• Does your child show any other troubling behaviors?