Prader-Willi syndrome is a rare genetic disorder that causes a range of changes in appearance, physical symptoms, dementia, and behavioral challenges. This syndrome is usually noticed soon after birth. Attention should be paid to early and ongoing treatment so that the person can achieve maximum independence and lead a normal life.
What is Prader-Willi syndrome?
Prader-Willi syndrome (PWS) is a rare and complex neurodevelopmental genetic disorder characterized by numerous cognitive, behavioral, and endocrine abnormalities as well as recognizable physical changes. Okay.
The main feature of PWS is a constant feeling of hunger, which begins around the age of 2. People with this syndrome tend to want to eat constantly because they never get the feeling of fullness (increase the brain) and it is often difficult for them to control their weight.
PWS can cause delays in milestones in childhood and puberty. If abnormal weight gain is not controlled, it can lead to life-threatening complications. Such as diabetes, heart problems or sleep apnea.
Anyone can develop Prader-Willi syndrome. This condition occurs in 1 out of 12,000 to 15,000 births, affecting the same number of boys and girls. The annual mortality rate is estimated at 1-4%.
The life expectancy of people with this syndrome is shorter than the patient’s prediction of the degree of intellectual disability. This is mainly due to the complications of hyperplasia and obesity-related causes.
What causes Prader-Willi syndrome?
A genetic change on chromosome 15 has been identified as the direct cause of Prader-Willi syndrome. Genes contain instructions for creating a human. They are made up of DNA, which are also packed into strands called chromosomes.
A person will have 2 copies of all genes in their body. This means that the chromosomes will come together in pairs. Humans have 23 pairs of chromosomes. One of the 15 chromosomes is different in Prader-Willi syndrome.
About 70% of cases of PWS are the result of a lack of genetic information from the copy of chromosome 15 inherited from the father. However, if PWS is caused by an alteration other than chromosome 15, there is a very small chance that you will have another child with the condition.
Problems affecting the brain:
The researchers think that problems with chromosome 15 could disrupt the development and functioning of part of the brain. This part of the brain is called the hypothalamus.
The hypothalamus plays a particularly important role in many bodily functions. For example, the process of producing hormones and helping the body regulate appetite. A problem hypothalamus may explain some of the typical features of PWS such as growth retardation and persistent hunger.
Studies using modern brain imaging technology have shown that, after eating, people with Prader-Willi syndrome have very high levels of electrical activity in one part of the brain (the prefrontal cortex). This part of the brain is involved in physical pleasure and satisfaction.
People with PWS have always found the act of eating extremely rewarding. Another theory is that, in Prader-Willi syndrome, the hypothalamus is not able to assess food levels in the body as usual. This means that a person with PWS always feels hungry no matter how much food they eat.
Symptoms of Prader-Willi Syndrome
Prader-Willi syndrome can cause a wide range of symptoms, affecting a person’s physical, psychological, and behavioral development. As follows:
1. Decreased muscle tone
Hypotonia is weakness caused by muscle weakness that is usually noticed soon after birth. This is one of the main signs of PWS in the neonatal period. Your child may have the following problems:
- Not full of movement
- There is a faint cry
- Poor reflexes
- Not being able to feed properly, which means your baby may have trouble feeding and be underweight until 1 year of age, he or she may need to be fed with a feeding tube
2. Underdeveloped genitalia
Boys may have an unusually small penis. One or both testicles may still be in their abdomen (undescended testicle). Girls will also have underdeveloped genitalia.
Children with Prader-Willi syndrome tend to go through puberty later than usual. Furthermore they may not fully develop into adults. Some examples to make it easier to visualize include:
Boys can still have a high-pitched voice, without much facial and body hair.
Girls usually don’t start menstruating until they’re in their 30s. Their breasts aren’t fully developed either. When menstruation begins, breasts are often irregular and very light.
It is nearly impossible for a man or woman with PWS to have children. They are often infertile because the testicles and ovaries do not develop normally. However, sexual activity can still take place, especially when sex hormones are replaced.
3. Distinct facial features
Children with Prader-Willi syndrome may have distinct facial features. These features are usually noticed soon after birth. Include:
- Almond shaped eyes
- Problems in terms of
- Narrow forehead at temples
- Thin upper lip and upturned mouth
- Narrow bridge of nose
- Small hands and feet
- Unusual white hair, skin and eyes
4. Difficulty in learning and development delay
Most people with Prader-Willi syndrome have mild to moderate learning difficulties. Furthermore, they have a much lower IQ than the rest of the population.
This means that children with Prader-Willi syndrome take longer to reach important developmental milestones. For example, a child with PWS will begin to sit up at about 12 months and begin to walk around 24 months. Many children also learn to speak late and have difficulty saying certain sounds.
Most children with PWS can attend a regular public school but need extra support. However, some children will have to transfer to a special school when they enter high school.
People with Prader-Willi syndrome often have difficulty with short-term memory, but they have relatively good long-term memory. Despite these problems, people with PWS tend to be good at solving puzzles, especially word searches and jigsaw puzzles.
5. Cravings and weight gain
People with Prader-Willi syndrome tend to have an increased appetite. They often overeat if given the chance. The medical name for this condition is “hyperphagia”.
Between the ages of 1 and 4, children begin to show more interest in eating. They often ask for more food and become frustrated and irritable if they cannot find more food. Food is a trigger for challenging behaviors in people with PWS.
Common defiant behaviors include:
- Angry behavior in search of food
- Interested in food pictures, food discussions or food-related games
- Stealing food, even stealing money for food
- Eating unsuitable foods, frozen, undercooked or even junk food
- Very good memory of people who have provided them with food in the past or situations where food is available
People with PWS can tolerate a much larger amount of food before the body has an automatic response to vomiting again. However, they are not sensitive to pain, so they can eat objects that can make others very sick. This puts them at high risk of food poisoning, suffocation or even stomach rupture.
6. Poor physical growth and development
Children with Prader-Willi syndrome are usually much shorter than normal children of the same age. This is very evident when they are 2 years old. Low levels of human growth hormone (HGH) contribute to this.
Furthermore, children with PWS do not even experience the typical growth spurts of puberty. If HGH is not replaced, the average height of Caucasians with Prader-Willi syndrome is about 159cm for men and 149cm for women.
7. Behavioral problems
Most people with Prader-Willi syndrome go through periods where their behavior is often difficult. However, these behavioral challenges will vary from person to person. It also depends on their time and circumstances.
Although this behavior can be challenging for parents, people with PWS are kind, affectionate, caring, and funny. People with PWS are more prone to anxiety and stress than others.
Behavioral triggers are often sudden changes, anxiety about food, feeling pressured, frustrated, low mood, too much stimulation, etc. In addition, other undiagnosed conditions are also present. may be related, such as autism.
This can cause challenging behaviors such as:
- Screaming and crying
- Physically aggressive behavior
- Likes to argue
- Ask the same question over and over
- Return to the same topic in a chat
8. Addicted to scratching the skin
Many people with Prader-Willi syndrome are constantly scratching their skin. Usually the skin on the face, hands or arms. They may scratch, pinch or pull the skin, sometimes even using tweezers or paper clips. This condition can lead to sores, scarring, and infection.
9. Sleep problems
In fact, many people with Prader-Willi syndrome have trouble sleeping. They may become tired and sleep during the day. But then wake up at night or get up very early in the morning.
Some people may experience interrupted breathing during sleep (sleep apnea). This causes excessive daytime sleepiness. This aggravates inactivity as well as obesity.
Sleep apnea often gets worse as you gain weight and will lead to a vicious cycle. It can also be dangerous if breathing is interrupted at night. It is important to identify sleep apnea so that appropriate treatment can be initiated early.
10. High pain tolerance
People with Prader-Willi syndrome have a high tolerance for pain. However, this is very dangerous. For example, a serious condition like appendicitis will cause severe pain in most people. But it may go unnoticed or just a minor annoyance to someone with PWS. This means that if someone with PWS complains of pain this should be taken seriously.
Is Prader-Willi syndrome dangerous?
According to experts, Prader-Willi is a dangerous syndrome. It has many potential complications, mainly related to obesity and not producing enough hormones. As follows:
Complications associated with obesity:
In addition to the constant feeling of hunger, people with Prader-Willi syndrome also have low muscle mass. They therefore need fewer calories than average and they may also be physically inactive. These increase the risk of obesity, and failure to control weight gives rise to associated medical problems. Include:
- Type 2 diabetes
- High Blood Pressure
- High cholesterol
- Heart-related diseaes
- Sleep apnea
- Increased risk of liver disease and gallstones
Complications of not producing enough hormones:
The failure to produce enough hormones in people with Prader-Willi syndrome can cause the following complications:
- Infertility: Although there have been a few reports of women with PWS becoming pregnant, most people with this disorder are unable to have children.
- Osteoporosis: Osteoporosis is a condition in which the loss of calcium in the bones causes the bones to become weak, brittle and prone to fracture. People with PWS are at increased risk for osteoporosis. This is because they have low levels of growth hormone and sex hormone. Meanwhile, both of these hormones play a role in maintaining bone strength.
– Other problems:
In addition to complications related to obesity and hormone production, Prader-Willi syndrome gives rise to other problems. Such as:
Effects of binge eating: Eating large amounts of food quickly can cause the stomach to become abnormally large. Whereas people with PWS may not report pain and they rarely vomit. Although rare, a person with PWS can eat so much that the stomach ruptures.
Reduced quality of life: Behavioral problems can interfere with family functioning, successful upbringing, or social participation. This reduces the quality of life of people with PWS.
Diagnosis of Prader-Willi syndrome
Prader-Willi syndrome is usually diagnosed using a series of genetic tests. These tests are done to check the chromosomes in a sample of your child’s blood for genetic changes that are known to cause PWS.
If you want to know if your child has Prader-Willi syndrome, you can also grade your child yourself based on the following available criteria:
– Main criteria: 1 point is scored for each of the following symptoms:
- Softness and weakness of the muscles, which become apparent soon after birth
- Eating and drinking problems do not develop in the first year of life
- Rapid weight gain in children from 1 to 6 years old
- Characteristic facial features such as thin upper lip, almond-shaped eyes
- Underdeveloped testicles or ovaries (hypogonadism) leading to delayed sexual development
- Slow physical development or learning difficulties
– Sub-criteria: 0.5 points are scored for each of the following symptoms:
- Lack of exercise during pregnancy (no kicking in the womb) or unusual lack of energy soon after birth
- Sleep disorders, such as sleep apnea
- Late or absent puberty
- Unusual white hair, skin and eyes
- Thick and sticky saliva
- Small hands and feet
- Strabismus or farsightedness
- Problems pronouncing words and sounds properly
- Scratching the skin often
– Total score:
- If your child is under 3 years old and scores 5 and has at least 4 major criteria, then PWS is highly suspected and genetic testing is recommended.
- If your child is over 3 years old and scores 8 and has at least 5 major criteria, then PWS is highly suspected and genetic testing is recommended.
How to effectively treat Prader-Willi syndrome?
To date, there is no cure for Prader-Willi syndrome. However, patients will have support from doctors to better control this condition. At the same time, the family (especially parents and carers) also plays a very important role in the patient’s treatment process. This helps people with PWS achieve as much independence as possible.
A treatment plan for Prader-Willi syndrome usually includes:
1. Treatment of problems in babies and children
Some of the issues that need to be addressed include:
– Difficulty in feeding:
Babies with PWS have difficulty feeding and may need to feed with the help of a feeding tube. After a few months, babies can be fed normally with breast milk or formula. However, babies often suckle more slowly than other babies.
– Undescended testicles:
Surgery is usually recommended to correct this in the first or second year of life. Treatment is needed to avoid the following problems:
Increased risk of developing testicular cancer if your son’s testicles are not corrected.
There may be problems with self-esteem as well as body image if your son lacks one or both testicles.
– Weight and diet management:
The most important aspect of caring for someone with Prader-Willi syndrome is trying to manage their diet. It also prevents them from gaining too much weight. This is also arguably the biggest challenge.
People with PWS burn fewer calories. At the same time, they also need less calories and food than other people. Here are a few dietary tips:
- Start getting into good habits towards a healthy diet. Regular mealtimes should be offered as soon as your child starts eating solid foods.
- Avoid sugary foods, high-calorie snacks, and sweets.
- Offer your child smaller portions of carbohydrates like potatoes or pasta.
- Increase your intake of lower calorie foods like salads, green vegetables, and fruits.
- Give your child a vitamin supplement.
Some things you can help your child control food intake:
- Maintain normal meal times, do not allow children to eat any more meals.
- Prevent them from consuming food outside of mealtimes. You can lock the pantry and refrigerator or lock the kitchen. This ensures they cannot get food.
- Keep food out of sight of children.
- Make sure those who come in contact with the child know about the food problems the child is having.
It is important to let relatives, friends, teachers and other parents know about the need to restrict your child’s diet. Remember that neither medication nor weight loss surgery is recommended.
Exercise is important for helping your child maintain a healthy weight. Children with Prader-Willi syndrome should exercise at least 60 minutes a day. However, many people with PWS experience reduced energy levels. Therefore, the exercise can be broken down into 5-10 minute training sessions during the day to help them not get tired or bored.
People with PWS tend to prefer individual exercises over team sports. For example, swimming, walking or exercising in the gym. It’s absolutely important not to promise food as a reward to encourage physical activity.
Treatment with human growth hormone (HGH) is recommended for children with Prader-Willi syndrome. In addition, HGH offers a number of other important health benefits. Include:
- Increase muscle size while reducing body fat
- Strengthens muscles to help with activities like walking and running
- Increase energy levels for more physical activity
- Helps change facial appearance, making PWS-related facial differences less noticeable
Initiation of treatment with HGH is usually recommended during childhood, approximately 6 months to 2 years of age. It is continued until the end of the growth process. Before starting growth hormone, a test to look for breathing problems is usually done.
Somatropin is a type of HGH used to treat children with Prader-Willi syndrome. Somatropin is administered by injection every day. Most children tolerate somatropin well and side effects are rare.
2. Challenging Behavior Management
Some solutions to help manage challenging behavior include:
– Set up good supports:
Most people with Prader-Willi syndrome do their best if they have a supportive environment. Things parents can do include:
- Establish a regular daily routine and give advance notice if any changes are planned.
- Do not pressure your child to speed up to complete the task.
- Make sure others (especially family and teachers) know how to interact with your child.
- Avoid eating in front of your children so they don’t start thinking about food.
Coping with emotional distress:
People with Prader-Willi syndrome often have difficulty managing their emotions. They tend to feel more stressed and anxious than others. To help the person manage this, you can:
- Acknowledge the person’s feelings
- Encourage them to go to a quiet place for a few minutes and listen to soothing music or take deep breaths
- Stay as calm as possible, absolutely don’t make them angry or frustrated
– Control the behavior of taking food:
Many children with Prader-Willi syndrome tend to try to win food whenever they get the chance. This is because they fail to control impulses related to food. However this needs to be managed to prevent obesity from becoming severe.
Try to establish a commitment to reward good behavior. With younger children, parents can agree verbally. However, in older children and adolescents, a written assurance of the reward will help children respond better.
3. Treatment of scratching the skin
Frequent scratching can lead to scarring and skin infections such as skin infections or cellulitis. If a child has cellulitis, early identification and treatment with large doses of antibiotics is essential.
Keep your nails as short as possible to help minimize damage to your skin. Try to cover up any affected part. Use clothing to limit access if possible.
Be sure to keep any damaged skin as clean as possible. Antibiotic creams may be prescribed by your doctor to be applied to the affected areas to prevent infection.
Some other treatments that may be effective include:
Cognitive behavioral therapy (CBT):
Cognitive behavioral therapy (CBT) is used to correct unhelpful behavior patterns by changing the way a person thinks. Experts suggest that people with PWS scratch their skin as a way for them to cope with boring situations. CBT can help them understand the thought patterns that drive scratching behavior. Also encourage them to find new ways of thinking to deal with these situations.
Selective serotonin reuptake inhibitors (SSRIs) or antipsychotics are sometimes recommended for people with Prader-Willi syndrome. However, these drugs have many potential side effects and are generally not recommended for children under 18 years of age. Drugs should only be considered when the symptoms of scratching are severe enough to account for the risks associated with treatment.
4. Treatment of mental disorders
A small number of people with Prader-Willi syndrome may develop psychosis. Usually in adolescence or adulthood. The symptoms of a mental disorder often begin suddenly, causing the person to become irritable and agitated, and even act in unusual ways. Psychosis can be treated with CBT or medication, such as antipsychotics.
5. Treatment of other related conditions
Children and adolescents with Prader-Willi syndrome are susceptible to a wide range of related conditions as they grow up. Depending on the problem encountered, the doctor will create an appropriate treatment plan. Such as:
- Cure farsightedness
- Treatment of sleep apnea
- Treatment of osteoporosis
- Scoliosis treatment
6. Adults with Prader-Willi . syndrome
Most adults with Prader-Willi syndrome are unable to live fully independently. They cannot live alone in their own home and have a full-time job. This is often due to defiant behavior and problems with food
However, adults with PWS can still lead an active social life and be able to participate in clubs or volunteer activities. Adults with this syndrome, who do not live with their parents, need care in other supportive housing.
People with Prader-Willi syndrome need lifelong care and treatment. Therefore, this syndrome is a big challenge and burden for the family as well as the society. Family members should actively seek support from associations and groups for people with PWS.