Prader - Willi syndrome

2021-09-13 07:14 PM

People with Prader-Willi syndrome want to eat constantly and often have problems controlling their weight. Many complications of Prader-Willi syndrome are caused by obesity.

Define

Prader-Willi syndrome is a rare disorder at birth that presents a number of physical, mental, and behavioral problems. An important feature of Prader-Willi Syndrome is a constant feeling of hunger that usually begins after the first year of life.

Prader Willi  syndrome

Image. Prader-Willi Syndrome

People with Prader-Willi syndrome want to eat constantly and often have problems controlling their weight. Many complications of Prader-Willi syndrome are caused by obesity.

If Prader-Willi syndrome is present, a team of specialists can work to manage your child's symptoms and reduce the risk of complications developing.

The symptoms

Infant

Signs and symptoms of Prader-Willi syndrome usually occur in two stages. Signs of the disorder that may be present during the first year of life include:

Decreased muscle tone. A major sign of Prader-Willi syndrome in the early stages is decreased muscle tone (hypotonia). The baby may rest with the muscles loose instead of fixed and may feel tender.

Especially on the face. Children with Prader-Willi syndrome may be born with almond-shaped eyes that turn down to the mouth and a thin upper lip.

Not thriving. During the first year of life, children with Prader-Willi syndrome may have poor sucking reflexes due to decreased muscle tone. Because eating, sucking is difficult, tend to gain weight slowly.

Lack of eye coordination (strabismus). The eyes of a child with Prader-Willi syndrome cannot move together. So can look aside.

Poor response. A baby may seem unusually tired, respond poorly to stimulation, and make a weak cry.

Early childhood

Between the ages of 1-6, other signs of Prader-Willi appear. These problems will remain present throughout life and require careful management or treatment. These signs may include:

Food and weight gain. The classic signs of this disorder are constant eating of food and rapid weight gain. Because the child with Prader-Willi syndrome is always hungry, often eats. The child may develop unusual behaviors in search of food, such as hoarding food or eating things like garbage or frozen food.

Underdeveloped sex organs. So-called hypogonadism occurs when the sex organs - the testes in men and the ovaries in women - produce little or no sex hormones. This leads to underdeveloped sex organs, incomplete development during puberty, and eventually to infertility.

Poor physical growth and development. Children with Prader-Willi syndrome have low muscle mass. May have short hands and feet. When a person with the disorder reaches full adult stature, they are usually shorter than other family members.

Disabilities. Mild to moderate mental retardation is a common feature of the disorder. Essentially all people with Prader-Willi syndrome, even those without mental retardation, have learning disabilities.

Slow motor development. Children with Prader-Willi syndrome often reach milestones later than other children. May be delayed sitting until 12 months and walking until 24 months.

Language problem. Speech is usually delayed until the child is 2 years old. Poor pronunciation of words can be a problem.

Behavioral problem. Children can be very stubborn or have tantrums, especially when food is denied. It is also possible to develop an obsessive-compulsive disorder, as a result, recurring thoughts or behaviors, or both, are undesirable. Mental health disorders may develop.

Sleep disorders. Some children with Prader-Willi syndrome may have sleep disturbances, including disruption of the normal sleep cycle and sleep apnea. Obesity can cause sleep disturbances.

Scoliosis of the spine. Some children with Prader-Willi syndrome develop an abnormal curvature of the spine (scoliosis).

Signs and symptoms of Prader-Willi syndrome may include

Short-sighted.

Light skin compared to other family members.

Awareness is not high.

Several conditions can cause some of the early signs of Prader-Willi, such as poor growth and poor muscle tone. Therefore, it is important to get a fast, accurate diagnosis.

Newborn examination if

Difficulty feeding.

Doesn't wake up easily.

Do not respond to contact.

Doll-like limbs.

See your doctor if an older child shows any of the following signs

Rapid weight gain.

Want to be hungry.

Unusual food-seeking behavior.

Causes

Prader-Willi syndrome is an inherited disorder, a condition caused by an error in one gene or genes. Although the exact genes responsible for Prader-Willi syndrome have not been identified, the problem is known to reside in a specific region of chromosome 15.

With exceptions, the genes involved in sex characteristics, all genes come in pairs, one copy inherited from one's father and one copy from the mother. For most genes, if one copy "works", then the other copies are also active. However, some genes act alone.

What happens in Prader-Willi syndrome?

Prader-Willi syndrome occurs because certain genes need to be expressed not for one of the following reasons:

The gene on chromosome 15 is missing.

People inherit two copies of chromosome 15 from their mother and no chromosome 15 from their father.

There is some error or defect in the gene on chromosome 15.

The genetic defect of Prader-Willi syndrome disrupts the normal function of a part of the brain called the hypothalamus. Among its many functions, the hypothalamus controls hunger and thirst and releases hormones that prompt the release of other substances responsible for sexual growth and development. Hypothalamic dysfunction - due to a defect in chromosome 15 - interferes with processes, resulting in uncontrolled hunger, growth retardation, sexual underdevelopment, and other features of Prader syndrome - Willi.

Risk factor

The defective or missing portion of the genes responsible for Prader-Willi syndrome usually occurs randomly. This means that in many cases, Prader-Willi syndrome cannot be prevented. However, in rare cases, a genetic mutation inherited from the father can cause Prader-Willi syndrome.

If you have a child with Prader-Willi syndrome and want a baby, consider seeking genetic counseling. Genetic counselors can help determine the risk of having a child with Prader-Willi syndrome.

Complications

Obesity linked to complications

Many complications can result from Prader-Willi syndrome from obesity. In addition to constant hunger, people with the disorder have low muscle mass, which requires lower-than-average calorie requirements. A combination of factors makes a person more susceptible to obesity and obesity-related medical problems. These complications may include:

Type 2 diabetes. Type 2 diabetes is high blood sugar caused by the body's inability to use insulin effectively. Insulin plays an important role in making blood sugar (glucose) - the body's fuel - available to cells. Obesity significantly increases the risk of diabetes.

Heart disease and stroke. People who are obese are more likely to have high blood pressure, hardening of the arteries, high cholesterol, and other factors that can lead to heart disease and stroke.

Arthritis. Being overweight can cause the bones and cartilage of the joints to wear down, leading to osteoarthritis.

Sleep apnea. This sleep disorder is characterized by pauses in breathing during sleep. The disorder can cause daytime fatigue, high blood pressure, and, rarely, sudden death. People with Prader-Willi syndrome may have sleep apnea or other sleep disorders even if they are not obese, obesity can worsen sleep problems.

Complications of hypogonadism

Other complications arise from hypogonadism, a condition in which the sex organs do not secrete adequate amounts of sex testosterone (male) and estrogen and (female), progesterone. These may include:

Infertility. Although there have been a few reports of women with Prader-Willi syndrome becoming pregnant, people with this disorder have been unable to have children.

Osteoporosis. Osteoporosis is a condition where bones are weak and brittle, which can break easily. People with Prader-Willi syndrome are at increased risk for osteoporosis because they have low levels of sex hormones, which help maintain strong bones.

Other Complications

Eating a lot of fast food can cause your baby's stomach to swell abnormally (dilated stomach). The dish can also cause suffocation and any other complications associated with obesity.

Testing and diagnosis

Prader-Willi syndrome, to determine the cause. The presence of other signs, like almond-shaped eyes or narrowing of the gap, can also check quickly. In older children, behavior problems and weight gain are often important diagnostic signs of the disorder.

A definitive diagnosis can almost always be made with laboratory testing. Special genetic tests can identify abnormalities in the baby's chromosomes that are characteristic of Prader-Willi syndrome.

Treatments and drugs

A team of medical professionals will likely work to manage your child's condition. Most children with Prader-Willi syndrome will need the following care and treatment:

Good nutrition for babies. Many children with Prader-Willi syndrome have difficulty with hypotonia. The doctor may recommend a high-calorie formula to help your baby gain weight and will monitor the child's growth as he or she begins to grow.

Growth hormone treatment. Growth hormone stimulates growth and influences the body's conversion of food into energy (metabolism). Some research shows that growth hormone treatment in children with Prader-Willi syndrome results in increased growth and reduced body fat, but the long-term effects of growth hormone treatment are not known. An endocrinologist can help determine if you would benefit from growth hormone treatment.

Sex hormone treatment. Endocrinologists may also suggest hormone replacement therapy (testosterone for men or estrogen and progesterone for women) to supplement low levels of sex hormones. Hormone replacement therapy can help reduce the risk of developing osteoporosis.

Healthy diet. Nutrition can help with growth, a healthy, reduced-calorie diet to keep a child's weight under control while ensuring proper nutrition.

Develop. Your child overall will likely benefit from a range of therapies, including physical therapy to improve movement skills and strength, sound therapy to improve speech and pronunciation skills, occupational therapy to learn everyday skills, and developmental therapy to learn age-appropriate behavior, social, and communication skills. In the United States, early intervention programs that provide these types of treatment are often available for infants and toddlers.

Mental health care. A mental health professional, such as a psychologist or psychiatrist, can help with any possible psychological problems, such as obsessive-compulsive disorder or mood disorders. . Some children may need medication to control behavior problems.

Other treatments may be needed depending on the specific symptoms present or complications that develop.

Transition to adult care

Most people with Prader-Willi syndrome will need specialized care and supervision throughout life. Many adults with the disorder live-in care facilities, which allow them to eat healthy diets, live safely, work, and enjoy leisure activities.

The organization, the Prader-Willi Association, can help families find resources and services.

Also, talk to your doctor about switching to an adult medical care regimen.

Lifestyle and Remedies

Tips to help care for a child with Prader-Willi syndrome include:

Pick up your baby carefully. Children with Prader-Willi syndrome have decreased muscle tone, which increases the risk of slipping their hands when lifting them under their armpits.

Take steps to help prevent eating. Following a low-calorie diet is essential to keeping your child from becoming overweight. Try avoiding buying high-calorie snacks. Children's food within reach. Refrigerator lock. Use small dishes to serve meals.

Dietary supplements. If a diet is calorie-restricted, ask your doctor if vitamin or mineral supplements are needed to ensure balanced nutrition.

Appropriate screening test. Be sure to talk to your doctor about having your child screened for complications of Prader-Willi syndrome, including diabetes, osteoporosis, and an abnormal spine (scoliosis).

Coping and supporting

Having a child with Prader-Willi syndrome and related behavior problems is challenging and can take a lot of patience. Ask your doctor about family support groups in your area. Organizations, such as the Prader-Willi association provide resources, support groups, and educational materials.

Related articles:

What causes Prader-Willi syndrome?

Diagnosis and treatment Prader - Willi syndrome.

Prader - Willi Syndrome disease reference guide