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Down Syndrome


Now because Down syndrome is a situation where sometimes pregnancies go on and it’s the most common aneuploidy that we know about, that we see, let’s talk for a minute about aneuploidy or Down syndrome specifically. Now how would you recognize someone with Down syndrome? I bet all of you have seen someone with Down syndrome. How do you know when you see them? They have similar characteristics that you see when you see someone. Yeah, they have similar facial features that are common. Yeah, you might see a sibling and say oh they look like their sibling, but you would also be able to recognize that most people with Down syndrome have some common facial features. Now the geneticists can tell us the details of exactly what all those characteristics are, but yeah there are some characteristic facial features.

Other things underlying the facial features, internal things that are common with Down syndrome that you may not know about — there’s some other physical issues. For example, about half of babies with Down syndrome have heart defects. And a lot of them need surgery, and a lot of them need fixed. About 10 percent of them have bowel or intestinal problems, some of which need surgery also. So those are some bigger physical issues that you might see. There’s some little things, little simple things. Little fingers that are turned in like this — that doesn’t matter that much. Or a line that goes all the way across the palm — that’s not uncommon. Maybe one of you has a palm or crease that goes straight across but you know that’s meaningless, right? That kind of little thing. But there are some minor abnormalities like that. Things with the toes, the big toe tends to stick out to the side. Again those aren’t the biggest issues.

What are the other common things that you hear about with Down syndrome? What would be more concerning than maybe even facial features? Mental. Yeah, mental development. Developmental capacity. People with Down syndrome have what we call developmental delay, that’s the politically correct term. So that’s an issue. How about life expectancy? Have you ever seen an elderly person with Down syndrome? Not very often. No. Not very often, right, they tend to have a shorter life expectancy. They have premature aging and some of these other situations that we have talked about can shorten their life, life expectancy to some degree.

How about personality? Sweet. Sweet, yeah. Yeah, the psychologists say their personality is a lot like children. Kind of child-like, right? That can be good, very sweet, right? Kids are sweet but sometimes kids are naughty and people with Down syndrome tend to be uninhibited. That’s the term that psychologists use. A little bit uninhibited.