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is there such a thing as "mild" Down's syndrome?

post #1 of 23
Thread Starter 
This is my first time posting in this forum. Please no flames, I really don't know how to word this or approach this subject, I just ask for your understanding and patience as I have no experience in this subject.

My friend and I know someone with a beautiful little girl. She is delightful, however we are concerned. She has some facial and cranial features we have been conerned about since birth. The back of her head is very very flat and her eyes are slightly reminiscient of Down's almond shaped. She is does have a significant speech and social delay. The problem is that the mom doesn't seem to see any problems however we are concerned. We have not said anything as we know it is not our place but we have done some research and believe that if nothing else, early childhood intervention could really help this little girl. We have no idea if we are warranted in thinking it could be a mild case of Down's but I do think we need to consider help for her speech and social delays....any thoughts? Thanks in advance for your help and understanding. I have no experience in this but am eager to learn and understand....
post #2 of 23
I've never heard of "mild Down Syndrome", but I can tell you that, as with any disorder, not everyone shows all of the characteristics of that disorder. However, she might not have DS; she might have another chromosomal disorder. That's basically what Down Syndrome is. People with DS have either part of or an entire extra 21st chromosome, making the total 47 (most people have 46). There are other chromosomal disorders that present themselves with similar physical features, so without testing, there's really no definitive way to tell if the girl does indeed have Down Syndrome or if she has another chromosomal disorder. It might be a good idea to inform the mother, however, because many people with Down Syndrome also have heart problems and she might want to get that checked out. I can't really give you any advice on how you might bring this up to her. Maybe other people could give you some advice in that regard.
post #3 of 23
I'm not an expert but your post caught my eye. My very best friend in grade school had "mild" or high functioning Down's syndrome. I don't know if that is a medical term or what but we were friends and I didn't know she had DS until she went to "special class". You are in the right place to learn! much love.
post #4 of 23
As with any disability or chromosomal disorder, every child is different. Down Syndrome can cause a variety of physical and cognitive differences - some can be mild, some severe. So a child with DS might have almost no mental retardation but a lot of heart problems, and another might have an IQ of 60 but a very healthy heart. Same goes for facial differences, mouth/palate formation, etc. And those differences would make some children have more of a speech delay or fine motor issues, and others less.
post #5 of 23
Mosaic Down Syndrome is a form that sometimes presents as a milder form.

http://www.lpch.org/DiseaseHealthInf...s/mosdown.html
post #6 of 23
Actually a great question and one I thought about a long time ago but never could manage to ask

My quad screen came back "positive" for DS. I went for an U/S to get more info and while they did find some soft markers, the info they really found was so much more pressing that I simply put the diagnosis of DS aside until her birth. I finally managed to ask the neonatologist if dd had DS about 15 hours after she was born and her response was "I don't know, I'll check"??

She came back and said it didn't look like it but I wondered for a time whether she might have been DS with no outstanding physical indication. I've since some to know for certain (I think!) that she is not DS...

But- Great question and thanks for asking it here!
post #7 of 23
my sister has "milder" downs. She has all the classic features, but her IQ is 74 (so right on the border of MR), she met all her milestones at the very last possible minute of normal (like she walked at 18 months on the nose), and she's super social and never stops talking. She hasn't had any major medical issues either (lots of kids with downs have heart and bowel problems). I mean, no one would meet her and only wonder if she has it, it's very obvious, but if you were basing it solely on milestones then you might not know it. But once again, she looks very typically "downs," and as she's gotten older it's more noticable how socially behind she is.

So I'd think it was unlikely, but there is a whole spectrum of downs. As someone already said, I'd think it was much more likely that it was another genetic disorder.
post #8 of 23
There was someone here, if I remember correctly, who had a child diagnosed with mosaic Down Syndrome. Basically it is an incomplete form of Down Syndrome, where some cells have the extra chromosome and some don't.

http://www.mosaicdownsyndrome.com/faqs.htm

It can cause a more subtle type of Down Syndrome, much easier to miss.

Either way, I am not sure there is much you can do if your friend and her child's doctor aren't concerned. It is possible that she has a clue as to what is going on but just isn't turning to you for support? I have no idea how one would bring up such a worry with any amount of tact.
post #9 of 23
As PP have stated, there is a milder form of DS. I am not sure how it happens but it does. The Geneticist explained it when I had my Amnio with Gabrielle. He pointed to the guy that had DS but was an actor on TV (Corky? or something). He has a milder form of DS.
post #10 of 23
Hi there and welcome to you!

I have a 2 1/2 yr. old DD w/DS, and while I mostly agree with what has been said by previous posters, I do wish to make a distinction.

There is no such things as having Down Syndrome "a little" or having it "mildly." An individual either has Down Syndrome or they don't. Period. It's the presence or the absence of an extra chromosome, #21. Even people with mosaic DS, where they may not have that extra chromosome in all their cells, either HAVE mosaic DS or they don't. They don't have it "mildly." And more current research has shown that the level of functioning in individuals with mosaic DS isn't statistically any higher or lower than individuals with plain ole garden-variety DS.

Now, just as with many chromosomal conditions, there are a wide variety of symptoms that can be present or absent in a person who has that condition. For example, a child may or may not have all the common facial features of DS, may or may not have a heart condition, may or may not have particularly low muscle tone. The list goes on. IQ is another variable with Down Syndrome, but it's extremely hard to judge how "high-functioning" a person w/DS will be until they are much older, school-aged at least.

I just needed to clear that up, b/c I can't tell you how many people have asked me if Sophie is "mild" or not. No, she's not mild, she doesn't have a mild case of DS, b/c DS is not a cold, lol. It's not contagious and she won't grow out it, either. (yep, been asked that, too! ) She has it, and whether or not she will end up with an average IQ that will allow her to be more high-functioning mentally still remains to be seen. She's getting lots of help and support to reach her full potential, and it's far too early to determine just what her potential is.

It sounds like your friend's DD may or may not have some sort of genetic reason behind her delays. It might or might not be Down Syndrome. Hopefully, you can convince her to explore the reasons behind her DD's delays, which might result in a diagnosis that will be helpful. Good luck!

Guin
post #11 of 23
Quote:
Originally Posted by samandhenrysmom View Post
Mosaic Down Syndrome is a form that sometimes presents as a milder form.

http://www.lpch.org/DiseaseHealthInf...s/mosdown.html
Yes, I was going to say this. I know a 6 year old with Mosaic Down Syndrome and he has the physical manifestations of Down Syndrome but it very average developmentally.
post #12 of 23
Quote:
Originally Posted by Guinevere View Post
Hi there and welcome to you!

I have a 2 1/2 yr. old DD w/DS, and while I mostly agree with what has been said by previous posters, I do wish to make a distinction.

There is no such things as having Down Syndrome "a little" or having it "mildly." An individual either has Down Syndrome or they don't. Period. It's the presence or the absence of an extra chromosome, #21. Even people with mosaic DS, where they may not have that extra chromosome in all their cells, either HAVE mosaic DS or they don't. They don't have it "mildly." And more current research has shown that the level of functioning in individuals with mosaic DS isn't statistically any higher or lower than individuals with plain ole garden-variety DS.

Now, just as with many chromosomal conditions, there are a wide variety of symptoms that can be present or absent in a person who has that condition. For example, a child may or may not have all the common facial features of DS, may or may not have a heart condition, may or may not have particularly low muscle tone. The list goes on. IQ is another variable with Down Syndrome, but it's extremely hard to judge how "high-functioning" a person w/DS will be until they are much older, school-aged at least.

I just needed to clear that up, b/c I can't tell you how many people have asked me if Sophie is "mild" or not. No, she's not mild, she doesn't have a mild case of DS, b/c DS is not a cold, lol. It's not contagious and she won't grow out it, either. (yep, been asked that, too! ) She has it, and whether or not she will end up with an average IQ that will allow her to be more high-functioning mentally still remains to be seen. She's getting lots of help and support to reach her full potential, and it's far too early to determine just what her potential is.

It sounds like your friend's DD may or may not have some sort of genetic reason behind her delays. It might or might not be Down Syndrome. Hopefully, you can convince her to explore the reasons behind her DD's delays, which might result in a diagnosis that will be helpful. Good luck!

Guin
Thank you for typing that out. I have a baby in my hands and couldn't write all that. I appreciate you explaining this the way you did, as my son Sean has Down syndrome and I *hate* this mild/severe confusion that people have.
post #13 of 23
There are many chromosome disorders, some that are so small they're missed even on chromosome analysis. I wouldn't jump to Down Syndrome, and social delay doesn't sound like it anyways but of course, everyone with Down Syndrome is different just like the majority of people who have normal arrangement of 46 chromosomes are individuals. There is not really such a thing as "mild" Down Syndrome however there is the possibility not every cell is affected, like mosaic, and there is a range of how affected (meaning developmental and health problems) any given individual is from mildly to severely and no one knows why.

If the parents are worried, the first step would be getting a referral to a geneticist to run a karyotype (where they look at all the chromsomes) and evaluate the child for signs and symptoms of a disorder. However, regardless of what they say, any child with delays can receive therapy from the state, so if she's under 3 they can contact Early Intervention for an evaluation.
post #14 of 23
Just to mention as well that there are other genetic annomalies that can cause facies similar to DS. My youngest they belive has a 22deletion (velocardiofacial sydrome) although it didn't show up on the initail karyotyping the will be doing more indepth testing in October - it may be a mosaic form.
DS is DS just as 22del is 22del mosiac or on all cells.
Kids with genetic annomalies can vary widely in areas affected and their abilities and degree of afliction.
For example
Megan has
Cleft palate, mild immune dysfuntion, mild heart defect, mild -moderate hearing loss, reflux, celiacs (or at very least a digestive reaction to gluten) small stature, slow growth, wide spaced large eyes(hypertolism) sensory and behavioral issues. Severe speech delay
Connor (twoboysmama) She can correct me if I get any of this wrong - sorry
PRS, high palate arch, immune disfunction (worse then megans) cupped ears, canal atraisia, low ear placement, wide spaced eyes, heart murmur but nothing seriouse, Growth issues.
Sarah (a little girl down the road with 22del) severe heart defect - 3 open heart surguries at 4 years old, hypotonia, speech delay, but not severe, behavioral issues. growth issues - she has no ear or palate issues at all.

As you can see all three children have the same base syndrome but it affects them differently. When I first met Sarah and her mom I felt so so lucky that Megan "just" had the cleft palate, but looking back after really no child is better or worse then another with this syndrome - Megan will be having cleft repair surgury, magor denatal surgury/and orthadontic work later in life. she will need heart surgury at some point, but are waitng till later as she is stable now.
I would not trade all Megan's problems though for Connors immune disfuntion (megans is mild compaired to his) so as I said no child is "better" or "worse" then any other.
post #15 of 23
Quote:
Originally Posted by acannon View Post
I've never heard of "mild Down Syndrome", but I can tell you that, as with any disorder, not everyone shows all of the characteristics of that disorder. However, she might not have DS; she might have another chromosomal disorder. That's basically what Down Syndrome is. People with DS have either part of or an entire extra 21st chromosome, making the total 47 (most people have 46). There are other chromosomal disorders that present themselves with similar physical features, so without testing, there's really no definitive way to tell if the girl does indeed have Down Syndrome or if she has another chromosomal disorder. It might be a good idea to inform the mother, however, because many people with Down Syndrome also have heart problems and she might want to get that checked out. I can't really give you any advice on how you might bring this up to her. Maybe other people could give you some advice in that regard.
:

I agree with everything above. There are many, many chromosomal disorders that could cause the symptoms and physical features you described. Genetic testing could help make a determination.

The only things I wanted to add was to the approach the topic sensitively with the mom.

And also that if the baby was born in a hospital, the hospital staff most likely would have identified Down's syndrome and informed the parents. I can't imagine Down's going undetected. Maybe the mother knows and just hasn't said anything?
post #16 of 23
Quote:
Originally Posted by bri276 View Post
There are many chromosome disorders, some that are so small they're missed even on chromosome analysis.
:
post #17 of 23
Quote:
Originally Posted by That Is Nice View Post
And also that if the baby was born in a hospital, the hospital staff most likely would have identified Down's syndrome and informed the parents. I can't imagine Down's going undetected. Maybe the mother knows and just hasn't said anything?
Actually it is missed more often than you would think. My son wasn't dx until he stopped breathing at 3 wks old and had to be life-flighted to a children's hospital. My local hospital did not detect it at all. I know other kids with Ds that did not get dx until over the age of 6 months and they were born in hospitals too. One even had TOF heart defect! Scary!

To the OP, I'm not sure how you could tactfully bring it up. October is Down syndrome awareness month and of course, Sarah Palin has a son with Ds. Maybe you could have an idle coversation about those topics and say "Has anyone mentioned that your child has some similar features?"

When I was told, the Dr was very blunt. He walked in the room and said "Has anyone mentioned to you that your son has features connected to Down syndrome?" It's an idea that rarely crosses a parent's mind at birth (unless you have a prenatal head's up) so it always throws you through a loop no matter how it is phrased.
post #18 of 23
Quote:
Originally Posted by MySunflowerBoys View Post
Actually it is missed more often than you would think. My son wasn't dx until he stopped breathing at 3 wks old and had to be life-flighted to a children's hospital. My local hospital did not detect it at all. I know other kids with Ds that did not get dx until over the age of 6 months and they were born in hospitals too. One even had TOF heart defect! Scary!

When I was told, the Dr was very blunt. He walked in the room and said "Has anyone mentioned to you that your son has features connected to Down syndrome?" It's an idea that rarely crosses a parent's mind at birth (unless you have a prenatal head's up) so it always throws you through a loop no matter how it is phrased.


Wow, I'm really surprised to hear this, both about not knowing before leaving the hospital and also about the blunt revelation.

post #19 of 23
Quote:
Originally Posted by momtoalexsarah View Post
Just to mention as well that there are other genetic annomalies that can cause facies similar to DS. My youngest they belive has a 22deletion (velocardiofacial sydrome) although it didn't show up on the initail karyotyping the will be doing more indepth testing in October - it may be a mosaic form.
DS is DS just as 22del is 22del mosiac or on all cells.
Kids with genetic annomalies can vary widely in areas affected and their abilities and degree of afliction.
For example
Megan has
Cleft palate, mild immune dysfuntion, mild heart defect, mild -moderate hearing loss, reflux, celiacs (or at very least a digestive reaction to gluten) small stature, slow growth, wide spaced large eyes(hypertolism) sensory and behavioral issues. Severe speech delay
Connor (twoboysmama) She can correct me if I get any of this wrong - sorry
PRS, high palate arch, immune disfunction (worse then megans) cupped ears, canal atraisia, low ear placement, wide spaced eyes, heart murmur but nothing seriouse, Growth issues.
Sarah (a little girl down the road with 22del) severe heart defect - 3 open heart surguries at 4 years old, hypotonia, speech delay, but not severe, behavioral issues. growth issues - she has no ear or palate issues at all.

As you can see all three children have the same base syndrome but it affects them differently. When I first met Sarah and her mom I felt so so lucky that Megan "just" had the cleft palate, but looking back after really no child is better or worse then another with this syndrome - Megan will be having cleft repair surgury, magor denatal surgury/and orthadontic work later in life. she will need heart surgury at some point, but are waitng till later as she is stable now.
I would not trade all Megan's problems though for Connors immune disfuntion (megans is mild compaired to his) so as I said no child is "better" or "worse" then any other.
Connor's mommy here Yep, you got it about right, he also has mild-moderate hearing loss, severe reflux (controlled after identifying food sensitivities), laryngotracheobronchomalacia (try saying that five times fast!), mild hypotonia, and severe speech delay. We feel very lucky, though, because he dodged any major cardiac issues, no hypocalcemia, and his palatal issues are minor in comparison to other 22q kids I've met (probably will not have palate repair, but may need VPI repair later in childhood) His immune deficiency is scary if I let myself dwell on it, but we control it very well jsut by keeping him out of daycare and keeping him on breastmilk (something very challenging to do with a child with his kinds of special needs, breastfeeding him was/is by far the hardest thing I've ever done!!)

All chromosomal syndromes have a wide variance, and many overlap in a lot of their symptoms. For example, I remember looking at Connor at birth and thinking he looked like he had Down Syndrome, because he had very flat facial features, wide spaced eyes, he looked very Asian (we're caucasian, no Asian ancestry at all) It turns out that the wide spaced eyes with flat nasal bridge and facial hypotonia (which causes or exacerbates the "flat" look to the face) is common in many syndromes, 22q being one of them (the syndrome Connor eventually was diagnosed with) It's just that I was most familiar with Down Syndrome, so that's what I thought at first.

You might want to steer your friend here, let her ask her own questions and then she can decide if she thinks she wants to pursue any testing. Some parents don't want to get genetic testing done for various reasons, that's a very private decision. We've found it to be immensely helpful, though I do understand parents who choose not to.
post #20 of 23
wanted to clarify and explain "mosaic" in different ways, never hurts to try as pass on knowledge. Our son has a mosaic form of Focal Dermal Hypoplasia (Xp 11.23) not Down Syndrome, but I would think the genetics is the same...

More medically defined... Mosaicism is two populations of cells with a different genetic makeup.

Mosaic, think of art or tile work, all the pieces do not match, will have odd shapes or sizes of tile that make up the whole.

Draw blood from someone without mosiacism and you should find that all the cells have the same genetic makeup, for analogy, lets call them "red cells" ... Draw blood from my son or someone with mosaicism and you will find some that are "blue" and some that are "red"

Cut a piece of celery in half (2) then cut each piece in half again (4) and again (16) and again (32) somewhere in your cutting drop one piece of celery in a cup of food colored water and let it draw up color then start cutting each piece in half, do this to the dyed piece also, pretty soon you will have a nice little pile of diced celery some original color and some with the dye in it. Put the diced celery in a bowl, close your eyes and pick out a couple pieces... did you get one of the dyed ones? all dyed? none dyed? This is why sometimes mosaic conditions are not found, the tester has to find both a green colored piece of celery and a piece of blue celery...

If you were to use the celery and dye a piece at an early stage, say when you made that original cut and had only 2 pieces the likelihood of finding both green and blue celery is pretty good when you have a thousand pieces of celery and close your eyes and pick out 10 pieces....

If you were to wait and color the piece of celery later in your cutting.. say when you had 512 pieces then the likely hood of finding a piece of blue celery in your hand when you close your eyes and pick out a few pieces is pretty slim... there just aren't as many blue ones in the bowl.

....To address the "mild" statement... I do agree with the PP, in the fact that either you have or don't have a genetic anomaly. If only one cell in your body has ABC then you have ABC.

The manner in which... they way the body... how a person looks/how a person functions, the severity of problems resulting from, the beneficial effects of having ABC ... can be described as mild, moderate, severe... The disease, the condition, the syndrome, the "anomaly" itself cannot and should not be described in those terms.
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