True statement? Downs Syndrome is a spectrum

[Anonymous]

Most people alive with DS have a mosaicism. That means that some of their cells have the genetic marker for it (trisomy 21) and some of their cells do not. The severity of the condition could be decided by how much and where the affected cells are in their bodies. Chances are that any fetus with a high number of affected cells does not survive the pregnancy.

[Anonymous]

Anonymous wrote:Most people alive with DS have a mosaicism. That means that some of their cells have the genetic marker for it (trisomy 21) and some of their cells do not. The severity of the condition could be decided by how much and where the affected cells are in their bodies. Chances are that any fetus with a high number of affected cells does not survive the pregnancy.

2% of people with Down syndrome have the mosaic form.

[Anonymous]

Anonymous wrote:

Anonymous wrote:Most people alive with DS have a mosaicism. That means that some of their cells have the genetic marker for it (trisomy 21) and some of their cells do not. The severity of the condition could be decided by how much and where the affected cells are in their bodies. Chances are that any fetus with a high number of affected cells does not survive the pregnancy.

2% of people with Down syndrome have the mosaic form.

It could be as high as 4%. But it would indicate a less severe form of the syndrome.

[Anonymous]

Definitely a spectrum.

My cousin with DS is very independent. He lives alone, drives, and has held the same job for nearly 10 years. His cognitive, emotional, and actual age are all within 5-7 years of each other. For example, at 15/16 he was not ready to drive. He took several lessons over the years and got his license at around age 23 or 24.

My roommate from college has a daughter with DS who is 16. Her cognitive and emotional age are both estimated to be around 7 years old and doctors don't believe she'll progress much beyond that. My friend can't even leave her alone to shower without locking her in the bathroom with her (they use locks placed up very high on doors).

[Anonymous]

Anonymous wrote:

Anonymous wrote:

Anonymous wrote:Most people alive with DS have a mosaicism. That means that some of their cells have the genetic marker for it (trisomy 21) and some of their cells do not. The severity of the condition could be decided by how much and where the affected cells are in their bodies. Chances are that any fetus with a high number of affected cells does not survive the pregnancy.

2% of people with Down syndrome have the mosaic form.

It could be as high as 4%. But it would indicate a less severe form of the syndrome.

It's far from "most" as the PP claims. So far, that it's a bizarre claim to make.

[Anonymous]

Actually Trisomy 21 is the most prevalent form of DS and that means
random chance. However, if you have one baby with Down syndrome
the stats rise to 1 in 100 for a second child at least for one in 30s under
35. T21 is not viewed as genetically related in a family.

[Anonymous]

Most disabilities are a spectrum. My daughter and I both have Dyslexia but hers is far more severe than mine. On the flip side my ADHD is worse than hers. DH also has ADHD but has completely different symptoms than DD and myself.

I would just stay away from comparison words like "worse" or "easier", and stay with "different".

[Anonymous]

Anonymous wrote:Actually Trisomy 21 is the most prevalent form of DS and that means
random chance. However, if you have one baby with Down syndrome
the stats rise to 1 in 100 for a second child at least for one in 30s under
35. T21 is not viewed as genetically related in a family.

Trisomy 21 is the only form of Down syndrome.

[Anonymous]

Prior Poster as the mom to the young adult with Down Syndrome or DS, I can tell you there are three different kinds:
- Trisomy 21 is a random chance event and not directly related to a familial genetic condition. This was important for us to know from the get-go as two of my other siblings were expecting a baby within days of one another. More to the point, we had two girls already, so it was good to know it was not likely to be passed on. In our case, however, Hodgkins and lymphoma cancers seem to be in the family genetic make-up so you just never know.

- Mosaic Down Syndrome and Translocation Down Syndrome are the two other expressions of Down syndrome.

[Anonymous]

Life is a spectrum, so of course Down Syndrome is a spectrum!

[Anonymous]

Anonymous wrote:Most disabilities are a spectrum. My daughter and I both have Dyslexia but hers is far more severe than mine. On the flip side my ADHD is worse than hers. DH also has ADHD but has completely different symptoms than DD and myself.

I would just stay away from comparison words like "worse" or "easier", and stay with "different".

But the word spectrum is misleading in this case. You cannot be borderline Down Syndrome, for example. Or have one clinician diagnose you as Down Syndrome and a second clinician disagree. It’s binary. You have it or you do not have it, zero debate.

Is there a range of disability, and a range of coexisting Heath issues in people with DS? Of course. But there is not a spectrum of having trisomy 21. Either there are 3, or there are not 3 of the 21st chromosome.

[Anonymous]

my friend has a child with DS and has very serious health issues. Including needing a feeding tube at age 15, major respiratory issues and requires typically at least one hospitalization every year for at lesat 1-2 weeks.

[Anonymous]

PP - Yes, some individuals with Down syndrome can have serious related health issues. When our daughter was born in 1983, I was surprised to learn in recent years that the life expectancy was 26. Today with advances in treating heart related ailments and respiratory diseases, the life expectancy is about 60. There is a very high correlation between DS and dementia.

[Anonymous]

I appreciate some of the points being made regarding the notion of "spectrum" suggesting that it may or may not be clear, but I think they are misunderstanding "spectrum." I don't think the word inherently means that it can be difficult to tell if someone has something or not. It just means there is a range.

[Anonymous]

I don't think it's a spectrum. They either have DS or don't, but can have different amounts of physical or mental impairments.