You may have had some concerns about your baby's growth and development, or about how he or she is eating and drinking. Some babies need a little special care. Today, we are going to talk about a rare but important condition that you should be aware of.
What is Prader-Willi Syndrome?
Simply put, Prader-Willi Syndrome (PWS) is a rare genetic condition that affects a child's metabolism. It can cause changes in the child's development and behavior.
A young child with this condition has very little muscle tone (hypotonia). This means that the body may feel very weak. It may be difficult to suckle and eat food at first. However, between the ages of two and six, an abnormal appetite, or constant hunger (hyperphagia), begins to develop. If food is not properly controlled, this excessive eating can lead to the child becoming very large, or severe obesity.
In addition, PWS can cause a child to miss normal developmental milestones and delay puberty. Rarely, life-threatening complications can occur, such as respiratory problems, cardiovascular problems caused by obesity, sleep apnea, and diabetes.
Who is most affected by this situation?
Actually, this condition called Prader-Willi syndrome can happen to anyone. Because it's genetic, it often happens randomly, meaning it happens for no reason when germ cells are formed. Very rarely, it can be inherited if someone in the family has had this condition before.
How common is Prader-Willi Syndrome?
This is a very rare condition. If you look around the world, it's about one in 10,000 to one in 30,000 babies. So, you can imagine how rare this is.
What are the symptoms of Prader-Willi Syndrome?
The way PWS affects each person can vary, but there are some common symptoms.
Symptoms seen during infancy:
Some of these symptoms may be seen as soon as the baby is born:
- Weak cry .
- Constant tiredness and lethargy.
- Difficulty sucking and eating (Poor feeding ability).
- A limp , or lack of muscle tone (hypotonia). It can feel like your body is drooping like a doll.
Physical characteristics that appear as the child grows:
These characteristics are sometimes present at birth, but become more apparent as the child grows older:
- Almond- shaped eyes .
- A long, narrow head.
- A triangular mouth.
- Being a little shorter than other children (short height).
- Small hands and feet.
- Underdeveloped genitals.
Characteristics that affect a child's development and behavior:
These are the characteristics that parents sometimes feel the most, and can be a little challenging:
- Temper tantrums , emotional outbursts or stubbornness.
- Intellectual disability: This means that it takes a while to learn and understand new things.
- Obsessive or compulsive behaviors like skin picking .
- Sleep disorders. Sometimes feeling very sleepy during the day, and at night, it feels like you can't sleep.
- Eating problems. This is the most prominent symptom. No matter how much you eat, you don't feel full. This leads to overeating (hyperphagia).
Imagine how difficult it would be if your child, no matter how much he ate, kept saying, "I want more, I'm hungry." This overeating can lead to class III obesity, which can increase the risk of developing other complications, such as diabetes and heart disease.
What is the reason for this? Why is this happening?
Prader-Willi syndrome is caused by a change in our genes. Specifically, some genes on chromosome 15 in our body do not function properly.
We all receive one copy of chromosome 15 from our mother at conception, and one copy from our father. Normally, the genes on the copy of chromosome 15 from our father are activated, that is, "on." The genes on the copy of chromosome 15 from our mother are "off," that is, silent. We call this `genomic imprinting.' However, both copies are needed for the genes in our body to function properly.
Now, the condition `PWS` can be caused by several changes in this chromosome 15:
- Chromosomal deletion : In about 70% of PWS patients, part of the 15 chromosomes inherited from the father is missing in each cell. So, the symptoms occur because the genes from the father do not work properly and the genes from the mother are silent.
- Maternal uniparental disomy: About 25% of the time, a child inherits two copies of chromosome 15 from their mother and none from their father. In this case, both copies of chromosome 15 are silent, so the genes do not function properly.
- Translocation : In less than 1% of cases, a piece of chromosome 15 breaks off and attaches to another chromosome. Then, the genes are not where they should be, so they don't do the job they're supposed to.
Simply put, this chromosome 15 is what gives instructions to make things called `small nucleolar RNAs (snoRNAs)` that help our cells do various things. These `snoRNAs` control other `RNA` molecules. `RNA` molecules make proteins, and those proteins do a lot of the work in cells. So, when there's a problem with chromosome 15, this whole process goes awry.
How do doctors diagnose this? (Diagnosis)
A doctor diagnoses Prader-Willi syndrome by carefully examining the child and performing genetic tests. The doctor will look at the child's physical characteristics and ask you questions about your child's symptoms, eating habits, and behavior.
If there is any suspicion of PWS, a genetic test will be ordered. This is usually a blood test. This can accurately determine if there are any abnormalities in the child's DNA, that is, changes in the genes.
What are the treatments for this?
When treating Prader-Willi syndrome, the main focus is on controlling symptoms and preventing complications. There is no single treatment for this, but a combination of treatments is used.
Treatment methods:
- For small babies, you can use special devices like special bottle nipples to help them drink milk . Because they have a hard time sucking, they need to get the nutrition they need.
- The most important thing is to help your child eat properly . This means feeding them low-calorie foods and controlling the amount they eat. This can be a bit challenging, as your child will often feel hungry.
- Medications are given to increase certain hormones . For example, growth hormone. For boys, testosterone or human chorionic gonadotropin (HCG) can be given, and for girls, estrogen.
- Supportive therapies are very important. Physical therapy helps strengthen muscles, speech-language therapy helps improve speech, and special education helps improve a child's learning abilities.
What are the side effects of Prader-Willi Syndrome?
Often, children with this condition become obese due to overeating. This obesity can lead to other complications:
- Heart problems.
- Diabetes (Type 2 Diabetes).
- High blood pressure (Hypertension).
- Respiratory problems.
- Sleep apnea.
Although obesity is a complex condition, it can be managed. Your child's doctor will be able to give you good guidance on this.
Can we prevent this?
Unfortunately, Prader-Willi syndrome cannot be prevented . It is genetic. Most of the time, it is caused by a random genetic mutation. It is unpredictable. It is not caused by anything the parents did before or during pregnancy.
If you are planning to have another child, or if you want to learn more about this, it is a good idea to get genetic counseling. Then, you can talk about the risk of having a child with this genetic condition.
What should I expect if my child has Prader-Willi Syndrome?
This may make you feel very sad and shocked. That's normal. However, with proper treatment from the beginning and continued good care , most children with Prader-Willi syndrome can live a normal life.
It is normal to need extra help with schoolwork. All children with PWS will need support throughout their lives to live as independently as possible. Your doctor may refer you to a nutritionist. They can help you manage your child's diet and create a meal plan. It is also helpful for parents and families to see a mental health counselor or join a support group for families with children with this condition. This can help you learn new ways to cope and support your child.
Is there a complete cure for this?
No, there is currently no cure for Prader-Willi syndrome. However, research is ongoing to further understand the condition.
What time should I see a doctor?
If you think your child has symptoms of Prader-Willi syndrome, see your child's doctor right away . Don't ignore any developmental delays (missed developmental milestones) during infancy. If the condition is recognized early, your doctor can help manage your child's condition, help them reach developmental milestones, and reduce complications by controlling their diet.
What questions should I ask the doctor?
When you go to see the doctor, it's a good idea to ask questions like these:
- How can I help protect my child from obesity?
- What will my child's treatment include?
- What behavioral problems might my child have?
- Are there support groups that can help us learn about and cope with PWS?
- Is it a good idea to have genetic testing for the rest of my family?
It's normal to feel overwhelmed when you learn that your child has a rare, incurable genetic condition. However, your child's medical team will provide you with the support and guidance you need. Your child may take longer to reach developmental milestones than other children their age. They will also need lifelong supportive care to prevent complications. If you have any questions about your child's diagnosis or how to best care for your child, don't hesitate to talk to your child's doctor.
The most important things we need to remember (Take-Home Message)
Okay, so let's recap some of the most important things we talked about today about Prader-Willi Syndrome:
- This is a very rare genetic condition, meaning it is not due to the fault of the parents.
- Some symptoms can be seen even in infancy , such as lethargy and difficulty breastfeeding.
- Constant hunger and overeating are key symptoms of this condition, which can lead to obesity.
- This can affect the child's development, behavior, and learning.
- Although there is no cure, there are treatments that can help control symptoms and lead a better life. It is very important to recognize the disease early and start treatment.
- Support for parents and family is very important. You can get help from doctors, nutritionists, therapists, and support groups.
I hope this information is helpful to you. If you have any concerns about your child, do not hesitate to seek medical advice.
` Prader-Willi syndrome, PWS, genetic diseases, children's health, overweight, diet, developmental delay
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