Have you ever heard of Phelan-McDermid Syndrome? You probably haven't heard of this name, because it's a rare genetic condition. This condition can cause various health problems, intellectual development delays, and behavioral changes, especially in young children. So, today we'll talk about it in a simple way that you can understand. Don't worry, it's very important to know this information.
What is Phelan-McDermid Syndrome?
Simply put, Phelan-McDermid syndrome is a genetic disorder that can cause a variety of problems in a child's body, intelligence, and behavior. For example:
- Difficulty eating.
- Muscle weakness.
- Delays in speech and other developmental milestones.
- Some children have conditions like Autism Spectrum Disorder.
- Sometimes conditions like epilepsy can even occur.
There is another name for this, which is ``22q13.3 deletion syndrome.'' Although the name may seem a bit complicated, let's talk about that too.
How rare is this condition?
In fact, this condition called Phelan-McDermid syndrome is very rare . According to scientists, it affects between two and ten children per hundred thousand. However, because it is a bit difficult to diagnose, it is possible that more children have this condition than are reported. Only between 2200 and 2500 children have been diagnosed worldwide. So you can imagine how rare this is.
What is the connection between Phelan-McDermid syndrome and autism?
This is a problem that many people have. Many children with Phelan-McDermid syndrome have been found to have autism spectrum disorder . Scientists estimate that about 1% of children with autism may also have Phelan-McDermid syndrome. This means that there is a connection between the two.
Why does Phelan-McDermid syndrome occur?
Okay, now let's see what causes this. This is caused by a change in the chromosomes . Chromosomes are the little things inside our cells. Inside these are our genes. Genes are like a set of instructions that determine everything from how our body should function, to our height, eye color, and what diseases we may develop.
Normally, each human cell has 23 pairs of chromosomes, for a total of 46 chromosomes. A child with Phelan-McDermid syndrome has a small piece of chromosome 22 missing, or "deleted." That's why it's also called `22q13.3 deletion syndrome.'
Most of the time, this condition is not inherited from parents. This loss of a chromosome piece happens randomly, that is, when an egg or sperm cell is formed, or when an embryo is developing. However, in some rare cases, it can be inherited from a parent. In that case, a mother or father with this condition has about a 50% chance of their child inheriting the condition.
What are the symptoms of this condition?
The symptoms of Phelan-McDermid syndrome can vary greatly from person to person. Some people have fewer symptoms, some have more. Some symptoms are present at birth, while others appear in infancy or early childhood. These symptoms can be physical, behavioral, intellectual, or a combination of all of these.
Your child may have symptoms like these:
- Developmental delays : Things like not rolling over, not sitting up, not walking. Think about it, some babies start rolling over at 6 months, some sit up at 9 months. But a child with this condition may take a little longer to do these things.
- Increased pain tolerance : This means feeling less pain than others.
- Muscle weakness (hypotonia) : The body may feel limp and limp.
- Speech problems : Delayed speech or inability to speak.
- Sleep disorders : Difficulty falling asleep, such as waking up frequently.
- Sweating less than normal : This can cause the body to overheat quickly and become dehydrated.
- Difficulty eating or swallowing .
- Digestive system problems : Frequent nausea, vomiting, and heartburn (gastroesophageal reflux disease).
Many people with Phelan-McDermid syndrome also have autism spectrum disorder, so they may also experience behavioral symptoms such as:
- Looking into the eyes is a weakness .
- Feeling afraid and nervous in social situations .
- Interest in chewing non-food items (e.g. toys, clothes).
- Hypersensitivity to touch : Feeling uncomfortable when someone touches you.
Some special features can also be seen in the appearance of people with this condition:
- Sunken eyes.
- Drooping eyelid (ptosis).
- Ears that are large or protrude forward.
- The second and third toes may appear to be fused together (syndactyly).
- Having large, muscular hands or feet.
- The head is elongated and narrow in shape.
- The chin takes on a pointed shape.
- Small or abnormal toenails.
Sometimes this condition can be accompanied by congenital heart disease and kidney problems . Very rarely, these children can develop fluid-filled sacs (arachnoid cysts) on their brains. These can cause increased pressure inside the head, causing restlessness, crying, headaches, and epilepsy.
How is this disease diagnosed?
Because the symptoms of Phelan-McDermid syndrome are sometimes subtle, they can be difficult to recognize. Your child may need to undergo several tests before they can be given an accurate diagnosis. The doctor may do things like:
- Physical examination of the child.
- Asking about the child's medical history regarding symptoms and developmental delays.
- Ask about family medical history to see if anyone in the family has had this condition.
- Request genetic testing . This usually involves taking a small blood sample. This can be used to see if the chromosome fragment in question is missing.
In very rare cases, this condition may not be caused by a missing chromosome. Instead, it may be caused by a change in a gene called `SHANK3`. If no chromosome deletion is found, your doctor may also suggest testing for this gene.
If the tests confirm the condition `22q13.3 deletion syndrome`, the doctor may suggest several other tests:
- Genetic testing of both parents : See if this is something inherited or a random occurrence.
- An MRI (Magnetic Resonance Imaging) or CT (Computed Tomography) scan of the child's brain: To see if there are any signs of an arachnoid cyst.
- Kidney ultrasound : To check for kidney defects.
- Echocardiogram : To check for heart abnormalities.
- Hearing test.
- A detailed eye examination.
- A sleep study.
Is there a complete cure for this?
In fact, there is currently no cure for Phelan-McDermid syndrome. The primary goal of treatment is to control the child's symptoms, help them function as well as possible, and prevent any complications that may arise.
Your child's care team may include a variety of specialists, including:
- Cardiologist
- Gastroenterologist
- Nephrologist
- Neurologist
- Occupational therapist: A person who helps people perform daily tasks such as eating and writing.
- Orthopedist (bone and joint specialist)
- Physical therapist: Someone who helps strengthen affected body parts.
- Speech/language pathologist
- Endocrinologist
Remember, all of these specialists are working together to provide the best care for your child.
Can this situation be prevented?
Once someone is diagnosed with the condition, there is currently no way to fix the genetic changes. However, in the rare case that one of the parents also has the condition, there are times when IVF technology or prenatal testing can be used to prevent it from happening to future children.
If you or someone in your family has this condition, it is very important to talk to a doctor or genetic counselor . They can explain to you how likely it is that your children will inherit this condition.
What will the future be like if my child has this condition?
This is not the same for every child. It depends on the type of disability the child has and how severe it is.
The effects of this condition are rarely life-threatening. However, many people with this condition may require lifelong medical care and ongoing social support. Therefore, the love, understanding, and support of family members are very important to these children.
How do you take care of a child like this?
It is important to take your child to every specialist appointment to improve their abilities. Since your child may have a reduced ability to sweat, be aware of the following:
- Avoid excessive heat .
- Give the child plenty of water to drink (keep him from getting dehydrated).
- Protect from direct sunlight .
Because many people with Phelan-McDermid syndrome have a high pain tolerance and difficulty communicating their discomfort, be on the lookout for signs that your child is in pain . If you notice any of these, call your doctor. They can help you determine if your child is having a stomach ache or something else. Signs of pain may include:
- Being quieter than usual, less sociable.
- Breathing faster than normal.
- Crying or being more restless than usual.
- Holding on tightly to bedding or nearby objects.
- Keeping the body, arms, and legs stiff and motionless.
- Facial expression of pain (e.g., closing eyes tightly, pursing lips).
- Whining or screaming.
What else can you ask the doctor?
If your child has Phelan-McDermid syndrome, you can ask the doctor these questions:
- Is this chromosomal deletion inherited or is it a random occurrence?
- Does my child have problems such as heart, kidney, or brain cysts?
- How much does my child's intellectual disability affect them?
- What kind of specialists should my child see? How often?
- Are there support groups that can help us live with this condition?
- Do you recommend genetic counseling?
- Should the rest of our family undergo genetic testing?
Finally, I have to say...
Phelan-McDermid Syndrome is a rare genetic condition. It can cause speech and developmental delays, as well as autism spectrum disorder. If someone in your family has been diagnosed with this chromosomal deletion syndrome, don't panic . A team of specialists can help you and your child. The main goals here are to improve your child's functioning, prevent possible complications, and provide genetic counseling if necessary. You are not alone , and there are many people who can help you on this journey.
` Phelan-McDermid Syndrome, Phelan-McDermid Syndrome, Genetic Disease, Chromosome, Autism, Developmental Delay, SHANK3
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