5,000 children are born with down syndrome in the United States each year. Dr. Mona Khanna explains this genetic condition.
Read the full transcript »
Rebecca Fox: 5000 a leading -- organization says that’s how many children are born with Down Syndrome in the United States each year. While Down Syndrome is the most commonly acquiring genetic condition many - surround it joining with us now to separate fact from fiction -- Icyou’s medical editor Dr. Mona Khanna. Dr. Mona, this is certainly been in the news a lot, a lot of people have heard about a Alaska governor Sarah Palin giving birth to a little baby boy with Down Syndrome. What is it exactly. Mona Khanna: That’s right, Rebecca its really been in the news which is called increased attention to it. And Down Syndrome is defined as a patient who has one extra chromosome and normally we have 23 pairs of chromosome or 46. A person who just born with Down Syndrome has one extra so they have 47 chromosomes. Rebecca Fox: What are signs and symptoms of Down Syndrome. Mona Khanna: The first thing you might notice of a baby who has Down Syndrome is that the baby has kind of a broad flat face the head is typically very small and there are unusual eye fills that you can see so the baby kind of looks like he or she has smaller eyes and slanted eyes but what you might see when the baby is growing up is mental and physical challenges. And it is the most common cause of mental retardation but the physical challenges are important too. Typically, these children ahead are high risk are been born with heart problems intestinal problems they could have vision issues they could have hearing issues they could have things like epilepsy so do have some physical challenges as well as mental challenges and these typically defined child with Down Syndrome. Rebecca Fox: What are risk factors for developing Down Syndrome? Mona Khanna: Oh there is one very known, very prevalent risk factor that many people are aware of and that is the older a woman is the more likely it is that she will have a child with Down Syndrome and let me give you some numbers that they may surprise you if a woman is 25 years old, she has a one in 1300 chance of having a child with Down Syndrome. Okay you think not such a big deal that number -- dramatically if a woman is 40 years old that number – comes to one in 106. Not so bad at 35 that’s 1 in 385 but as you can tell from this pattern it goes up as the woman’s age advances when she is pregnant and delivers a child. There are two other risk factors and one is if couple has already had a child with Down Syndrome then they are in higher risk of having another child with Down Syndrome. The last risk factor is that they are some genetic abnormalities that are passed on in family genes and if those genetic abnormalities exist then that put you in higher risk also having a child with Down Syndrome. Rebecca Fox: Can doctors treat Down Syndrome? Mona Khanna: We can't cure Down Syndrome so the most important thing to see when a patient presents with Down Syndrome is what’s the penetrance How it tends are those mental and physical challenges going to be because it believe it not its different for anybody you cannot issue a blanket statement and say was someone has Down Syndrome therefore they wont be able to function in the society and have all these limitations because its very different there are many people with Down Syndrome who are functioning engaging in regular activities holding jobs, living at home which in fact is the case more often the not for patients with Down Syndrome and these people are contributing members of society so really the most important thing is how intense they are affected with the Down Syndrome both physically and mentally. Rebecca Fox: Some important point to bring up, what about prevention anything we can do to prevent? Mona Khanna: We would like to talk about prevention and screening together when we talk about Down Syndrome and the reason is simply because the easiest way to prevent Down Syndrome as I mentioned earlier is of course have a child at younger age certainly less then the age of 35 bec