Prader willi syndrome: symptoms, causes, treatment & bull; hello healthy

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Definition

What is Prader willi syndrome?

Prader willi syndrome is a congenital disorder in babies that appears from birth. Prader willi syndrome is a congenital disorder that causes several physical problems including stunted body growth, mental retardation, and behavioral problems.

The main characteristic of Prader willi syndrome is persistent hunger that usually starts around 2 years of age.

Babies with Prader willi syndrome always want to eat because they never feel full, otherwise known as hyperpagia. That is why babies and children with this congenital condition usually have problems controlling their weight.

The desire to eat large quantities and constantly can make babies and children with this syndrome experience complications in the form of being overweight or obese.

Prader willi syndrome or Prader willi syndrome is the most common genetic cause of obesity in infants and children.

How common is this condition?

Prader willi syndrome is a birth defect that can occur in baby girls and boys.

Quoting from the U.S National Library of Medicine, it is estimated that 1 in 10,000-30,000 newborns experience this syndrome.

Prader willi syndrome can be treated by reducing the risk factors. We recommend that you discuss with your doctor for more information.

Symptoms

What are the signs and symptoms of Prader willi syndrome?

The signs and symptoms of Prader willi syndrome can vary from person to person. Since the baby is born until finally developing into the childhood and adult phase, the symptoms of this syndrome can change slowly.

Symptoms of Prader willi syndrome in infants in the first year

The various symptoms of Prader willi syndrome in babies born to one year of age are as follows:

1. Muscle weakness

Weak muscles (hypotonia) in babies may have sagging elbows and knees that make it feel like a limp doll when held.

2. Distinct facial features

Babies with Prader willi syndrome are usually born with different facial shapes. Take for example the eyes shaped like almonds, the head narrows at the temples, the mouth looks like it is upside down, and the upper lip is thin.

3. Developmental delays

The baby may not have a strong suction reflex due to muscle weakness. This made it difficult for him to eat so that he found it difficult to gain weight.

4. Poor eye coordination (strabismus)

The child's two eyes do not move at the same time, for example, each eye is crossed or sideways (squint).

5. Less respond

The baby appears weaker than usual, does not respond well to sound or touch stimuli, has difficulty waking up, or has weak crying.

6. Underdeveloped genitals

The penis and scrotum in male babies with this syndrome are usually small. In addition, baby boys' testes may be small or not descend into the scrotum.

Meanwhile, in female babies, the clitoris and labila are small in size.

Symptoms of Prader willi syndrome in children and adults

The various symptoms of Prader willi syndrome in children up to adulthood are as follows:

1. Constant hunger and weight gain

The typical symptoms of Prader willi syndrome are persistent hunger and rapid weight gain.

This is because a child who has this syndrome always feels hungry so they tend to eat more often with large portions.

2. Poor development of the sex organs

Prader willi syndrome can cause the sex organs of boys and girls to produce little or no sex hormones.

This can have an impact on the development of imperfect sex organs at puberty. If treatment is not done, girls with this syndrome may not have their periods until the age of 30 or they may not have periods at all.

While the boys do not have facial hair and their voices do not turn out to be heavier.

3. Imperfect physical growth and development

The muscle mass of children with Prader willi syndrome is usually low and low accompanied by small size of the hands and feet.

The posture of children with this syndrome is also usually less than optimal. This makes the height lower as an adult due to lack of growth hormone.

4. Stunted cognitive development

Impairments in cognitive development can make it difficult for children to think logically, make decisions, and solve problems.

5. Motor development is stunted

Babies and children with Prade willi syndrome usually tend to be slower to reach milestone (child development stages).

Take for example the baby walking late, the baby can sit but a little late, the baby can stand up but not at the age like his friends, and others.

6. Speech problems

Babies usually have impaired speech ability. Poor word articulation can continue into adulthood.

7. Behavioral problems

Children and adults with this syndrome may at times become stubborn, irritable, controlling, or manipulative.

They can become particularly fussy when they don't want to eat and may not be able to adjust to changing routines.

In addition, they may also have obsessive-compulsive disorder or repetitive behavior, or both.

Other mental disorders, such as skin picking (frequent exfoliating of the skin) may also occur.

8. Sleep disturbances

Children with Prader-Willi syndrome can have sleep disorders, including disturbances in the normal sleep cycle and sleep apnea (woke up because the breath stopped for a moment).

This disorder can make daytime drowsiness and make behavioral problems worse.

9. Scoliosis

Some children with Prader willi syndrome have an abnormal curvature of the spine (scoliosis).

There may be signs and symptoms not listed above. If you have concerns about a particular symptom, consult your doctor.

When to see a doctor?

We recommend that you pay attention when babies and children experience the following symptoms:

• Babies have difficulty feeding
• Lack of response when receiving stimulation
• Limp when held
• The child eats continuously
• Weight gain fast

If you see a baby having the symptoms above or other questions, consult a doctor immediately.

The health condition of each person is different, including babies. Always consult a doctor in order to get the best treatment regarding the health condition of your baby.

Cause

What causes Prader willi syndrome?

Prader willi syndrome is a genetic disorder, a condition caused by an error in one or more genes.

Actually, the gene that causes Prader willi syndrome has not been clearly identified. However, it is likely that the problem lies with a certain part of the 15th chromosome.

Launching from the Mayo Clinic page, a problem on chromosome 15 can cause interference with the normal function of the brain called the hypothalamus.

The hypothalamus is the part of the brain that controls hunger, thirst, and secretes hormones that are responsible for the growth and sexual development of children.

The hypothalamus that is not functioning properly due to abnormalities on chromosome 15 will hinder these processes.

This is what makes children with Prader willi syndrome feel uncontrollable hunger, stunted bodies, sexual retardation, and other characteristics.

Risk Factors

What increases the risk of developing Prader Willi Syndrome?

Prader willi syndrome cases can just happen without a family history. In other words, the disorder on chromosome 15 occurs by itself.

Meanwhile, in rare cases, this disorder can be inherited or passed from parents to children.

Therefore, babies born to families with a history of Prader willi syndrome have a higher risk of developing the condition.

If you want to reduce the risk factors that you and your baby may have, consult your doctor immediately.

Medicines & Medicines

The information below cannot be used as a substitute for a medical consultation. ALWAYS consult your doctor for information about medications.

How to diagnose this condition?

Doctors can predict that a newborn has Prader willi syndrome when they see special signs and symptoms.

Furthermore, doctors usually perform blood tests to confirm the correctness of the medical condition experienced by the baby. This blood test aims to test whether there are abnormalities on the chromosomes of the child that lead to Prader willi syndrome.

What are the treatment options for Prader willi syndrome?

Treatment as early as possible can improve the quality of life for infants and children with Prader willi syndrome.

In addition, some treatments that are also needed by infants and children with Prader willi syndrome are as follows:

Nutrition for babies

Many babies with Prader-Willi syndrome have difficulty feeding due to muscle weakness.

Your doctor may recommend high-calorie formula or special feeding methods to help your baby gain weight and monitor growth.

Human growth hormone therapy

Human growth hormone (HGH) is a hormone that is responsible for stimulating growth.

Treatment by giving growth hormone to a child with Prader willi syndrome can help increase growth, improve muscle shape, and reduce body fat.

The doctor will usually help determine whether the child needs to be given hormone treatment or not.

Sex hormone treatment

The doctor will advise the child to undergo hormone replacement therapy (testosterone for men or estrogen for women).

It aims to fill normalize levels of child sex hormones that are lacking. Hormone replacement therapy is usually started when the child reaches puberty.

Healthy diet

As your child gets older, a nutritionist can help you determine a healthy, low-calorie diet to maintain your weight.

Not to forget, the nutritional adequacy of children will also be taken into account to suit their needs.

Sleep disorders treatment

Treat sleep apnea and other sleep problems can improve daytime sleepiness and behavior problems.

Treatment of this sleep disorder should be done before starting growth hormone treatment.

Undergo therapy

Various therapies are needed to support the development and skills of children. Take, for example, physical therapy to improve mobility and energy and speech therapy to improve verbal skills.

Children can also undergo occupational therapy to support their daily skills.

Mental health care

A practitioner in mental health can help you identify psychological problems your little one may be experiencing. For example obsessive-compulsive behavior or disorder mood .

Other treatments may be needed depending on the specific symptoms or complications your child is experiencing.

Home care

What can parents do for children with Prader willi syndrome?

Some things parents can do to support the development of children with Prader willi syndrome are as follows:

Be careful when holding or cradling the baby

Infants and children with Prader willi syndrome have weak muscles. If not carried carefully, for example lifting the baby by placing your hands under the armpits, can increase the risk of falling.

Make a meal plan

Set meal times, the amount of food, and food intake for children to keep their weight from soaring up.

Encourage children to exercise

Increasing physical activity and exercising can help maintain body weight and improve bodily functions.

Routinely carry out child health checks

Talk to your doctor about how often your child should be tested to treat their condition and prevent other complications.

Complications from Prader willi syndrome usually include crooked spine (scoliosis), osteoporosis, diabetes, high blood pressure, and high cholesterol.

If you have any questions, consult your doctor for the best solution to your problem.

Hello Health Group does not provide medical advice, diagnosis or treatment.