Description

Prader-Willi (PRAH-dur VIL-e) syndrome is a genetic disorder that leads to physical health, mental health, and behavioral problems. A key feature of Prader-Willi syndrome is a feeling of being hungry all the time.

People with Prader-Willi syndrome want to eat all the time because they never feel full. This is called hyperphagia. As a result, often find it difficult to control your weight. Many complications of Prader-Willi syndrome are due to obesity.

A team of different specialists can better manage the symptoms of Prader-Willi syndrome. The team approach to this complex condition causes complications less likely and improves the quality of life.

Symptoms

The symptoms of Prader-Willi syndrome, which can vary, change slowly over time, from childhood to adulthood.

Babies

The symptoms that may be present from birth are:

  • Lack of muscle tone. One of the main signs during childhood is a poor muscle tone, also called hypotonia. Babies may rest with their elbows and knees loosely extended instead of fixed. They also may feel floppy or like rag dolls when they are in detention.
  • Distinct facial features. Babies can be born with almond-shaped eyes, a narrowing of the head, in the temples, a spin-down of the mouth, and a thin upper lip.
  • Poor sucking reflex. Infants may have a poor sucking reflex because they have less muscle tone. Poor suction makes the power supply of the hard disk and may make it less likely that you'll gain weight at the expected rate.
  • In general, low capacity of response. A baby can seem very tired, do not respond to the stimulation, have difficulty waking up or weakly crying.
  • Underdeveloped genitals. Males may have a small penis, and scrotum. The testicles may be small or not descend from the abdomen into the scrotum. This is known as cryptorchidism. In women, the clitoris and the labia may be small.

The early childhood to adulthood

Other features of the Prader-Willi syndrome appear when a child is very young and continue for life, including:

  • The food craving and weight gain. A classic sign of Prader-Willi syndrome is a craving for food all the time, starting in early childhood. To be hungry all the time it takes to eat often and eat large portions. This leads to a rapid increase in weight. Unusual food-seeking behaviors, such as hoarding food, or eat frozen food or garbage, may occur.
  • Underdevelopment of the sexual organs. A condition called hypogonadism occurs when the sex organs — the testes in males and ovaries in females produce little or no sex hormones. This leads to the sexual organs that are not fully developed, and incomplete or delayed puberty. Almost all people with Prader-Willi syndrome are not able to become pregnant. Without treatment, women can't start their period until their 30s, or that you can never have a period. Males may not have much facial hair, and their voices never fully deepen.
  • The lack of growth and physical development. Does not produce enough growth hormone may reduce the adult height and lead to low muscle mass and high body fat. Other problems endocrine may include not produce enough thyroid hormone, also known as hypothyroidism. Other endocrine problem central adrenal insufficiency, which maintains the body to respond appropriately to stress or infections.
  • Having a hard time thinking, problem solving and learning. A common feature of Prader-Willi syndrome is to have mild to moderate problems of thinking, reasoning, and problem solving. This is the so-called cognitive impairment. Even the children and the adults without cognitive impairment may have learning disabilities.
  • Delay in motor skills. Young children with Prader-Willi syndrome often reach milestones in physical movement, such as sit, or walk later than other children.
  • Problems with speech. Speech is often delayed. Having a hard time choosing the words and speak clearly, can continue as an adult.
  • Behavior problems. Sometimes, children and adults can be very stubborn, angry, control, or manipulation. They may throw tantrums, especially when you reject the food. Can not accept changes in routine. Also, you can begin to show the obsessive-compulsive or repetitive behaviors, or both. Other mental health conditions, such as anxiety and skin picking, can occur.
  • The sleep conditions. Children and adults with Prader-Willi syndrome may have sleep conditions, including disruptions of the typical sleep cycle. They may also have sleep apnea, which is when the pauses in breathing during sleep. These conditions can make you feel very tired during the day and worsen the behavioral problems.
  • Other symptoms. These symptoms can include small hands and feet, and the curvature of the vertebral column, also known as scoliosis. They also can have hip problems, the less the flow of saliva, dental problems, and the myopia and other vision problems. Other symptoms include lack of pigment, also known as hypopigmentation, which causes the hair, eyes, and pale skin. They may also have problems controlling your body temperature. They may be able to handle more pain than the average person.

When to see a doctor

Regularly scheduled routine visits can help detect the early signs of the lack of growth and development which may be signs of Prader-Willi syndrome or other conditions. If you have concerns about the health of her baby in between routine visits, schedule an appointment with your child's health care professional.

Causes

Prader-Willi syndrome is a genetic disease caused by an error in one or more genes. Although it is not known exactly what causes the syndrome and Prader-Willi syndrome, the problem is in the genes, in a region of chromosome 15.

Except for genes related to sexual characteristics, all the genes come in pairs. One copy is inherited from the father, known as the father of the gene. And one copy is inherited from the mother, known as a maternal gene. For most of the types of genes, if one copy is active, also known as expressed, then the other copy is also expressed. But it is typical of some types of genes to act alone.

Prader-Willi syndrome occurs because certain paternal genes that must be expressed not because:

  • Paternal genes on chromosome 15 are missing.
  • The child inherits two copies of chromosome 15 from the mother and not the chromosome 15 from the father.
  • There is a change in paternal genes on chromosome 15.

A lack or a genetic alteration in chromosome 15 interrupts how a part of the brain called the hypothalamus works normally. This part of the brain that controls the release of hormones. A hypothalamus is not functioning correctly it can affect hunger, growth, sexual development, body temperature, mood, and sleep.

In the majority of cases, a random change in the gene is not inherited cause Prader-Willi syndrome. To find the gene change that causes the syndrome and Prader-Willi syndrome can help with genetic counseling.

Risk factors

A child with an error in one or more genes on chromosome 15 is the highest risk of developing the syndrome and Prader-Willi syndrome. For example, one of the genes might be missing. This error may or may not be inherited.

Those who have a child with Prader-Willi syndrome and would like to have another baby you must think about how to get genetic counseling. A genetic counselor can help determine the risk of having another child with Prader-Willi syndrome.

Complications

Obesity-related complications

In addition to being hungry all the time, people with Prader-Willi syndrome have low muscle mass. As a result, you need fewer calories, and they can't be physically active. These factors make them prone to obesity and the medical problems associated with obesity, such as:

  • Type 2 diabetes.
  • The high blood pressure.
  • High cholesterol.
  • Diseases of the heart.
  • Sleep apnea.
  • Other complications, such as being more likely to have liver disease and gallstones.

Complications of not producing enough hormones

The complications that come from not making enough hormones may include:

  • Sterility. Although there have been some reports of women with Prader-Willi syndrome become pregnant, the majority of people with this condition can not have children.
  • Osteoporosis. Osteoporosis causes bones to break easily. People with Prader-Willi syndrome are more likely to get osteoporosis because they have low levels of sex hormones. They may also have low levels of growth hormone. Both of these hormones, support strong bones.

Other complications

Prader-Willi syndrome can cause other complications, including:

  • Choking and stomach rupture. Eating large amounts of food quickly, he called out to eating in excess, it can cause the stomach to become larger than usual. People with Prader-Willi syndrome may not report pain, and rarely vomiting. Binge eating can also cause choking. Rarely, people can eat so much that he broke their stomachs.
  • Dental problems. To have less saliva and the saliva that is thick with a dry mouth are common in Prader-Willi syndrome, as it has developed very little of the tooth enamel. These problems, combined with poor dental hygiene can lead to tooth decay and gum disease.
  • Reduction of the quality of life. Behavior problems can affect the functioning of the family, a good education and taking part in social activities. These problems reduce the quality of life.

Prevention

If you have a child with Prader-Willi syndrome and would like to have another baby, think about how to get genetic counseling. A genetic counselor can help determine your risk of having another child with Prader-Willi syndrome.

Diagnosis

Usually, health professionals suspected Prader-Willi syndrome based on the symptoms. A diagnosis can be made through genetic testing almost all the time. This blood test can find problems in your child chromosomes that suggest the Prader-Willi syndrome.

Treatment

The early diagnosis and treatment can make the quality of the life better for people with Prader-Willi syndrome. A team of health professionals likely going to 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 the symptoms, the majority of children with Prader-Willi syndrome is needed:

  • A good nutrition. Many of the infants with Prader-Willi syndrome have a hard time feeding because they have less muscle tone. Your child's healthcare provider may recommend a high-calorie formula or special feeding methods to help your baby gain weight. It will control the growth of your child.
  • Human growth hormone (HGH) treatment. HGH treatment helps infants and children with Prader-Willi syndrome grow. It also makes the muscle tone better and reduces body fat. HGH can also be used in adults. A doctor who treats hormonal conditions, also known as an endocrinologist, can help you to find out if your child would benefit from HGH and talk about any risks.
  • Sex hormone treatment. Your endocrinologist may suggest that your child take the hormone replacement therapy with testosterone for men and estrogen and progesterone for women — due to the low levels of the sex hormones. Hormone replacement therapy usually begins when the child reaches the age is usually at puberty. You can decrease the risk of bone thinning, also known as osteoporosis. Your child may need surgery to correct undescended testes.
  • Weight management. A dietitian can help you create a healthy, low in calories in the diet to help control their child's weight, ensuring adequate nutrition. A calorie-restricted diet may need supplements of vitamins or minerals to ensure balanced nutrition. Be more physically active and exercising can help you manage your weight and make your child more able to function physically.
  • The treatment of sleep disorders. The treatment of sleep apnea and other sleep problems can improve daytime sleepiness, and behavior problems.
  • Various therapies. Your child is likely to benefit a wide range of therapies. These include physical therapy to make the movement skills and the force best therapy, speech to make verbal skills better, and occupational therapy to learn everyday skills. Development of the therapy to learn age-appropriate behaviors, social skills, and interpersonal skills, can also help. In the united states, early intervention programs with these types of treatment are generally available for babies and young children through a state department of health. During the school years, the planning of the education 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 the amount of food that is eaten. It is important to be clear about what is expected in terms of the conduct of his son. Sometimes medicine is needed to manage behavior problems.
  • Mental health care. A mental health professional, like a psychologist or a psychiatrist, can help with mental health problems, such as obsessive-compulsive disorder, skin picking, anxiety or a mood condition. Medicines can relieve the symptoms of mental health.
  • Other treatments. These may include specific management of symptoms or complications. For example, the tests for which the problems of vision, or scoliosis screenings and tests to the hypothyroidism or diabetes may find problems.

The transition to adult care

Many adults with the condition of life in residential care centres, which allow them to eat a healthy diet, to live in conditions of security, work and enjoy leisure activities.

As your child approaches adulthood, consider these plans:

  • Find local resources and services for adults through the school of your child and organizations such as the Prader-Willi Syndrome Association — united states.
  • Search in matters of custody, wills and special needs trusts for your child to be cared for and monitored in the future.
  • Talk with your healthcare provider about ways to change the adult's medical care.

Lifestyle and home remedies

Here are some tips to help you care for your child with Prader-Willi syndrome:

  • Learn about the Prader-Willi syndrome. Work with your child's health care team to learn about the condition and create a plan of care to manage symptoms and problems. The management of hormone levels, and weight can improve the development and behaviour, and help prevent complications.
  • Adhere to a strict meal plan. To keep the overweight, your child needs a low-calorie diet. The structure of the time you eat and the types of food served in food to create routines and help your child to learn the expectations. Use smaller dishes to serve meals and not buy high-calorie snacks. Store food out of your child's reach. Lock-in pantries, refrigerators, lockers and rubbish bins.
  • Encourage regular daily activity. Be more physically active and exercising can help you manage your weight and make your child more able to function physically.
  • Set limits. Create a company's programming and the set of expectations of behavior. If necessary, talk with your health care team about ways to deal with problems.
  • The regular medical care. Talk with your health care professional about a regular schedule of medical appointments and tests to see if there are any problems or complications.

Coping and support

Having a child with Prader-Willi syndrome is difficult and can take a lot of patience. The management of feeding problems, behavior and medical problems may affect the whole family.

For the coping and support, think about taking the following steps:

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

Preparing for your appointment

Your child can see in the first place to your family health care provider. Your child needs to see a pediatric endocrinologist and other specialists.

Here's some information to help you prepare for your child's appointment. The thought of taking a family member or a friend to support you and help you remember the information.

What you can do

To prepare for the appointment, make a list of:

  • Any of the symptoms that your child has been taking and for how long.
  • Your child's key medical information, including past illnesses and medical conditions, as well as the names and doses of the drugs, vitamins, herbs and other supplements.
  • The questions you want to ask your child's healthcare provider.

Some basic questions to ask your health care professional may include:

  • What is likely causing my child's symptoms?
  • What kind of evidence does my child need?
  • What treatment approach do you recommend?
  • What are the expected results of the 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?
  • You can suggest educational materials and local support services?
  • What services are available for the early childhood development?

What to expect from your doctor

Your child's healthcare provider will probably ask you several questions. Be prepared to respond to them, so that you have time to review the points that you want to focus on. For example, the health professional may ask different questions depending on the age of your child.

Questions about your baby include:

  • How often and how much your baby eats?
  • Does your child have problems sucking?
  • How well does your baby wake up?
  • Does your child seems 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 attack the food?
  • Does your child have temper tantrums?
  • Does your child show any of the problem behaviors?

The health professional will ask more questions based on your responses, as well as the symptoms of your child and their needs. Be prepared for these questions will help you make the most of your time with a health care professional.

Symptoms and treatment of Prader-Willi syndrome