Prader-Willi syndrome

Diagnosis

Typically, healthcare professionals suspect Prader-Willi syndrome based on symptoms. A diagnosis can be made through genetic testing nearly all the time. This blood test can find problems in your child's chromosomes that suggest Prader-Willi syndrome.

Treatment

Early diagnosis and treatment can make quality of life better for people with Prader-Willi syndrome. A team of health professionals likely will manage the condition.

Your child's team may include a doctor who treats hormonal conditions, also known as an endocrinologist, as well as a behavior specialist, a dietitian, physical and occupational therapists, a speech and language therapist, a mental health professional, a geneticist, and other specialists.

Although specific treatments vary depending on symptoms, most children with Prader-Willi syndrome will need:

• Good nutrition. Many infants with Prader-Willi syndrome have a hard time feeding because they have less muscle tone. Your child's healthcare professional may recommend a high-calorie formula or special feeding methods to help your baby gain weight. They will monitor your child's growth.
• Human growth hormone (HGH) treatment. HGH treatment helps infants and children with Prader-Willi syndrome grow. It also makes muscle tone better and lowers body fat. HGH also may be used in adults. A doctor who treats hormonal conditions, also known as an endocrinologist, can help find out whether your child would benefit from HGH and talk about any risks.
• Sex hormone treatment. Your endocrinologist may suggest that your child take hormone replacement therapy — testosterone for males or estrogen and progesterone for females — because of low levels of sex hormones. Hormone replacement therapy usually starts when your child reaches the usual age for puberty. It can lower the risk of bone thinning, also known as osteoporosis. Your child may need surgery to correct undescended testicles.
• Weight management. A dietitian can help you create 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. Being more physically active and exercising can help manage weight and make your child better able to function physically.
• Treatment of sleep disturbances. Treating sleep apnea and other sleep problems can improve daytime sleepiness and behavioral issues.
• Various therapies. Your child likely will benefit from a range of therapies. These include physical therapy to make movement skills and strength better, speech therapy to make verbal skills better, 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 usually are available for infants and toddlers through a state's health department. During school years, educational planning and support can improve learning.
• Behavior management. You may need to create schedules for your child and set strict limits on access to food and how much food is eaten. It's important to be clear on what you expect in terms of your child's behavior. Sometimes medicine is needed to manage behavioral problems.
• Mental healthcare. A mental health professional, such as a psychologist or a psychiatrist, may help with mental health problems, such as obsessive-compulsive behaviors, skin picking, anxiety or a mood condition. Medicine may ease mental health symptoms.
• Other treatments. These may include managing specific symptoms or complications. For example, exams for vision issues or scoliosis and tests for hypothyroidism or diabetes may find problems.

Transition to adult care

Many adults with the condition live in residential care facilities that allow them to eat healthy diets, live safely, work and enjoy leisure activities.

As your child approaches adulthood, consider these plans:

• Find local resources and services for adults through your child's school and organizations such as the Prader-Willi Syndrome Association — USA.
• Look into guardianship issues, wills and special needs trusts so your child is cared for and supervised in the future.
• Talk to your child's healthcare professional about ways to switch to adult medical care.

Lifestyle and home remedies

Here are tips to help you take care of your child with Prader-Willi syndrome:

• Learn about Prader-Willi syndrome. Work with your child's healthcare team to learn about the condition and create a care plan to manage symptoms and issues. Managing hormone levels and weight can improve development and behavior and prevent complications.
• Stick to a strict meal plan. To keep from becoming overweight, your child needs a low-calorie diet. Structure mealtimes and the types of food served at meals to create routines and help your child learn expectations. Use small dishes to serve meals and don't buy high-calorie snacks. Store food out of your child's reach. Lock pantries, refrigerators, cupboards and garbage cans.
• Encourage regular daily activity. Being more physically active and exercising can help manage weight and make your child better able to function physically.
• Set limits. Create a firm schedule and set behavioral expectations. If needed, talk to your healthcare team about ways to deal with problems.
• Schedule regular medical care. Talk with your healthcare professional about a regular schedule of health appointments and tests to check for problems or complications.

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 affect the whole family.

For coping and support, think about taking these steps:

• Talk to a mental health professional. If you're having trouble coping or you feel overwhelmed, talk to a mental health counselor or therapist.
• Join a support group. Some people find it helpful to talk with others who share similar experiences. Ask your healthcare provider about family support groups in your area. Organizations such as the Prader-Willi Syndrome Association — USA provide resources, support groups and educational materials.
• Seek other sources of support. Ask about sources of short-term care and ask for support from family and friends. Also, take time for your own interests and activities.

Preparing for your appointment

Your child may first see your family healthcare professional. Your child may need to see a pediatric endocrinologist and other specialists.

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

What you can do

To prepare for the appointment, make a list of:

• Any symptoms your child has been having and for how long.
• Your child's key medical information, including recent illnesses and medical conditions, as well as the names and doses of any medicines, vitamins, herbs or other supplements.
• Questions you want to ask your child's healthcare professional.

Some basic questions to ask your healthcare professional may include:

• What is likely causing my child's 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?
• What type of follow-up is needed and how often?
• 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 child's healthcare professional likely will ask you several questions. Be ready to answer them so you have time to go over the points you want to focus on. For example, the healthcare professional may ask different questions depending on your child's age.

Questions about your baby include:

• 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 tired, weak or sick?

Questions about young children include:

• How much does your child eat?
• Does your child look for food all the time?
• Does your child eat any unusual items or steal or sneak food?
• Does your child have tantrums?
• Does your child show any other troubling behaviors?

The healthcare professional will ask more questions based on your responses, as well as your child's symptoms and needs. Being ready for these questions will help you make the most of your time with the healthcare professional.