?What Is Down Syndrome? ?Your genes hold the keys to how you
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Dr. Atul Chowdhury
?What Is Down Syndrome?
?Your genes hold the keys to how your body looks and works. They’re behind everything from your hair color to how you digest your food. So if something goes wrong with them, it can have far-reaching effects.

?People with Down syndrome are born with an extra chromosome. Chromosomes are bundles of genes, and your body relies on having just the right number of them. With Down syndrome, this extra chromosome leads to a range of issues that affect you both mentally and physically.

?Down syndrome is a lifelong condition. Although it can’t be cured, doctors know more about it now than ever. If your child has it, getting the right care early on can make a big difference in helping him live a full and meaningful life.

?Effects of Down Syndrome
Down syndrome can have many effects, and it’s very different for each person. Some will grow up to live almost entirely on their own, while others will need more help taking care of themselves.

?Their mental abilities will vary, but most have mild to moderate issues with thinking, reasoning, and understanding. They’ll learn and pick up new skills their whole lives, but may take longer to reach important goals like walking, talking, and developing social skills.

?Many people with Down syndrome don’t have any other health issues, but some do. Common conditions include heart problems and trouble hearing and seeing.

?Causes
Normally, each cell in your body has 23 pairs of chromosomes. One chromosome in each pair comes from your mother. The other comes from your father.

But with Down syndrome, something goes wrong and you get an extra copy of chromosome 21. That means you have three copies instead of two, which leads to the signs and symptoms of Down syndrome. Doctors aren’t sure why this happens. There’s no link to anything in the environment or anything the parents did or didn’t do.

?While doctors don’t know what causes it, they do know that women 35 and older have a higher chance of having a baby with Down syndrome. If you’ve already had a child with Down syndrome, you’re more likely to have another one who has it as well.

?It’s not common, but it is possible to pass Down syndrome from parent to child. Sometimes, a parent has what experts call “translocated” genes. That means some of their genes aren’t in their normal place, perhaps on a different chromosome from where they’d usually be found.

?The parent doesn’t have Down syndrome because they have the right number of genes, but their child may have what’s called “translocation Down syndrome.” Not everyone with translocation Down syndrome gets it from their parents -- it may also happen by chance.

?Types
There are three types of Down syndrome:

?Trisomy 21. This is by far the most common type, where every cell in the body has three copies of chromosome 21 instead of two.
?Translocation Down syndrome. In this type, each cell has part of an extra chromosome 21, or an entirely extra one. But it’s attached to another chromosome instead of being on its own.
?Mosaic Down syndrome. This is the rarest type, where only some cells have an extra chromosome 21.
?You can’t tell what type of Down syndrome someone has just by how they look. The effects of all three types are very similar, but someone with mosaic Down syndrome may not have as many signs and symptoms because fewer cells have the extra chromosome.

?Physical Symptoms
It varies, but people with Down syndrome often share certain physical traits.

?For facial features, they may have:

?Eyes shaped like almonds (may be shaped in a way that’s not typical for their ethnic group)
Flatter faces, especially the nose
Small ears, which may fold over a bit at the top
Tiny white spots in the colored part of their eyes
?A tongue that sticks out of the mouth
They may have small hands and feet with:
A crease that runs across the palm of the hand
?Short fingers
Small pinkies that curve toward the thumbs
They may also have:
Low muscle tone
Loose joints, making them very flexible
Short height, both as children and adults
Short neck
Small head
At birth, babies with Down syndrome are often the same size as other babies, but they tend to grow more slowly. Because they often have less muscle tone, they may seem floppy and have trouble holding their heads up, but this usually gets better with time. Low muscle tone can also mean babies have a hard time sucking and feeding, which can affect their weight.

?Mental Symptoms
Down syndrome also affects a person’s ability to think, reason, understand, and be social. The effects range from mild to moderate. Children with Down syndrome often take longer to reach important goals like crawling, walking, and talking. As they get older, it may take more time before they get dressed and use the toilet on their own. And in school, they may need extra help with things like learning to read and write.

?Some also have problems with behavior – they may not pay attention well, or they can be obsessive about some things. That’s because it’s harder for them to control their impulses, relate to others, and manage their feelings when they get frustrated.

?As adults, people with Down syndrome may learn to decide many things on their own, but will likely need help with more complex issues like birth control or managing money. Some may go to college, while others will need more day-to-day care.

?Health Conditions
People with Down syndrome are more likely to have certain health problems, such as:

?Hearing loss . Many have problems hearing in one or both ears, which is sometimes related to fluid buildup.
Heart problems. About half of all babies with Down syndrome have problems with their heart’s shape or how it works.
Obstructive sleep apnea . This is a treatable condition where breathing stops and restarts many times while sleeping.
Problems seeing. About half of people with Down syndrome have trouble with their eyesight.

?Blood conditions, such as anemia, where you have low iron. It’s not as common, but they also have a higher chance of getting leukemia, a type of blood cancer.
?Dementia. This is an illness where you lose memory and mental skills. Signs and symptoms often start around age 50.
Infections. People with Down syndrome may get sick more often because they tend to have weaker immune systems.
They’re also more likely to be very overweight and have thyroid issues, blockages in their intestines, and skin problems.

??What Are the Treatments for Down Syndrome?
??Dr Rana Sanjay, renowned Physician at INDIA said ?If your child is born with Down syndrome, you want to be able to make informed choices about treatments that can help your little one thrive.

Because Down syndrome affects everyone who has it in different ways, there’s no one-size-fits-all approach to treatment. But doctors do know that the earlier children get care, the more likely they are to live up to their full potential.

?Your child may need help in different ways, from crawling and walking to talking and learning how to be social. She may also need extra attention in school. And she may have medical issues that need regular care.

?You’ll likely rely on a team of providers, including your child’s main doctor, and maybe specialists like ear doctors, heart doctors, and others. Your child may also work with physical, occupational, and speech therapists.

?Early Intervention
Most states offer programs that provide a range of services for children up to 3 years old. These programs can boost your child’s physical and mental growth. They typically have therapists and teachers who are specially trained to help kids learn a variety of skills, such as how to:

?Help in School
Many kids with Down syndrome go to their neighborhood schools along with all the other kids. This can be great not only for your child, but for the other children as well.

?Your child also has the right to get services under the Individuals with Disabilities Education Act (IDEA), which starts at age 3. IDEA requires public schools to offer the best education they can, no matter what challenges a person faces.

?As part of this effort, you’ll work with the school to develop an individualized education program (IEP). This helps make sure your child gets support that suits her needs. It may include things like working with a reading specialist or speech therapist.

?While public schools work great for many children, there other types of schools that focus more on the needs of kids with Down syndrome. Your child’s doctors, therapists, and teachers can help figure out which is best for her.

?Medical Treatment
Some health problems are more common in kids with Down syndrome. Many children don’t have them, but if yours does, you can get treatment for:
?Hearing loss. Many children with Down syndrome have hearing loss in one or both ears. Because of that, your child will likely have regular visits with an ear, nose, and throat (ENT) doctor to catch any issues early on. Sometimes hearing problems are caused by fluid build-up in the ears. In that case, ear tubes -- which many children get if they have constant ear infections--can help.

?Problems seeing. Issues with eyesight are also common. Your child will have regular check-ups with an eye doctor and may need glasses, surgery, or other treatment. It’s important to keep up with ear and eye exams, because problems seeing and hearing can lead to delays in learning and talking.

?Heart problems. About half the babies born with Down syndrome have a problem with either the shape of their heart or how it works. Some conditions are more serious than others and require surgery. In other cases, your child may need to take medicine.

??Obstructive sleep apnea. This is a condition where a person’s breathing stops and restarts many times as they sleep. Typically, a child with Down syndrome gets checked for sleep apnea by age 4. During an overnight sleep test, doctors check to see if your child’s breathing stops and restarts. If so, she may need to wear a mask while sleeping. The mask is attached to a machine that helps her breathe normally. Sometimes, larger-than-normal tonsils and adenoids cause sleep apnea. In this case, your doctor may suggest surgery to remove them.

?Leukemia. Children with Down syndrome are at a 10- to 20-fold increase for developing this blood cancer. But the risk is still at 2%. Leukemia is curable.

?Thyroid. Thyroid disorders are more prevalent in children with Down syndrome.

?Other medical problems. Your child may also have other less common issues that need treatment, such as:

Blockage in the intestine. Some babies with Down syndrome get Hirschsprung’s disease, where part of the intestine gets blocked. This is treated with surgery that removes part of the intestine.
Infections. Babies with Down syndrome also have weaker immune systems, so they may get sick more often. There’s no treatment for this, but it means that getting vaccines on time is even more important.
Thyroid problems . The thyroid makes hormones your body need. In kids with Down syndrome, it sometimes doesn’t make enough. If that happens, your child will take medicine to help.
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Dr Atul Chowdhury
RAF,CRPF
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