Know the basics
What is Prader-Willi syndrome?
Prader-Willi syndrome is a rare disorder present at birth that results in a number of physical, mental and behavioral problems. A key feature of Prader-Willi syndrome is a constant sense of hunger that usually begins at about 2 years of age.
People with Prader-Willi syndrome want to eat constantly because they never feel full (hyperphagia) and usually have trouble controlling their weight. Many complications of Prader-Willi syndrome are due to obesity.
How common is Prader-Willi syndrome?
Prader-Willi syndrome can affect patients at any age. It can be managed by reducing your risk factors. Please discuss with your doctor for further information.
What are the symptoms of Prader-Willi syndrome?
Signs and symptoms of Prader-Willi syndrome generally occur in multiple phases. Signs that may be present from birth include:
- Poor muscle tone. A primary sign during infancy is poor muscle tone (hypotonia). Babies may rest with their elbows and knees loosely extended instead of fixed, and they may feel floppy or like rag dolls when they’re held.
- Distinct facial features. Children may be born with almond-shaped eyes, a narrowing of the head at the temples, a turned-down mouth and a thin upper lip.
- Failure to thrive. Infants may have a poor sucking reflex due to decreased muscle tone. Because poor sucking makes feeding difficult, they tend to gain weight slowly.
- Lack of eye coordination (strabismus). The child’s eyes may not move together – they may cross or wander to the side.
- Generally poor responsiveness. A baby may seem unusually tired, respond poorly to stimulation, have a hard time waking up or have a weak cry.
Other features of Prader-Willi syndrome appear during early childhood and remain throughout life, requiring careful management or treatment. These features may include:
- Food craving and weight gain
- Underdeveloped sex organs (hypogonadism)
- Poor growth and physical development
- Intellectual disability
- Delayed motor development
- Speech problems
- Behavioral problems
- Sleep disorders
- Other endocrine problems
Other signs and symptoms of Prader-Willi syndrome may include:
- Nearsightedness (myopia) and other vision problems
- Light skin and hair compared with other family members
- High pain tolerance, making it difficult to identify injury or illness
- Problems regulating body temperatures during fever or in hot and cold places
There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.
When should I see my doctor?
If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.
What causes Prader-Willi syndrome?
Prader-Willi syndrome is a genetic disorder, a condition caused by an error in one or more genes.
Prader-Willi syndrome disrupts the normal functions of a portion of the brain called the hypothalamus. The hypothalamus controls hunger and thirst and releases hormones that prompt the release of other substances responsible for growth and sexual development.
What increases my risk for Prader-Willi syndrome?
Most cases of Prader-Willi syndrome occur randomly, with no family history of the disease. In rare cases, the disorder may be inherited, or passed down in families. Therefore, people with a family history of Prader-Willi syndrome have an increased risk of having the disorder.
Diagnosis & treatment
The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.
How is Prader-Willi syndrome diagnosed?
In infants, signs that may prompt your health care provider to request a blood test for Prader-Willi syndrome include:
- Poor muscle tone and a weak cry
- Poor sucking and feeding problems
- Almond-shaped eyes and narrowing of the head at the temples
- Problems with growth and development
In older children, your child’s health care provider may suspect Prader-Willi syndrome if your child exhibits:
- Excessive eating and weight gain
- Underdeveloped sex organs
- Short height and small hands and feet
- Developmental delays
- Intellectual disability
- Thick and sticky saliva
A definitive diagnosis can almost always be made with a lab test. Special genetic tests can identify abnormalities in your child’s chromosomes that indicate Prader-Willi syndrome.
How is Prader-Willi syndrome treated?
Early diagnosis and treatment can improve quality of life for a person with Prader-Willi syndrome. A team of health professionals will likely work with you to manage the condition.
Most children with Prader-Willi syndrome will need the following care and treatments:
- Good nutrition for infants
- Human growth hormone treatment
- Sex hormone treatment
- Healthy diet.
- Treatment of sleep disturbances
- Overall development
- Mental health care
Other treatments may be necessary, depending on the specific symptoms your child has or complications that develop.
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 through organizations
- Investigate guardianship issues and wills regarding future care and supervision for your child
- Talk to your child’s health care provider for suggestions about making the transition to adult medical care
Lifestyle changes & Home remedies
What are some lifestyle changes or home remedies that can help me manage Prader-Willi syndrome?
The following lifestyles and home remedies might help you cope with Prader-Willi syndrome:
- Pick up your child carefully. Babies and children with Prader-Willi syndrome have poor muscle tone, which increases their risk of slipping between your hands when you lift them under their armpits.
- Stick to a strict meal plan. Eating a low-calorie diet is essential to keep your child from becoming overweight. Structure meal times and the type of food provided to help develop routines and to help your child understand expectations.
- Take steps to help prevent binge eating. Avoid buying high-calorie snacks. Store food out of your child’s reach. Lock pantries, refrigerators and cupboards. Use small dishes for serving meals.
- Ask about supplements for your child’s diet. If your child is on a restricted-calorie diet, ask your health care provider if supplemental vitamins or minerals are necessary to ensure balanced nutrition.
- Encourage regular daily activity. Increasing physical activity and exercise can help manage weight and improve physical functioning.
- Set limits. Create a firm schedule and work on behavioral problems. If needed, seek help to address problems.
- Schedule appropriate screening tests. Talk with your health care provider about how often screening is needed for complications of Prader-Willi syndrome, such as diabetes, osteoporosis or an abnormally curved spine (scoliosis)
If you have any questions, please consult with your doctor to better understand the best solution for you.
Hello Health Group does not provide medical advice, diagnosis or treatment.