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buryuntime
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07 Oct 2010, 8:24 pm

So I was reading about Fragile X and it states it is a cause of autism but not all people with Fragile X have autism. So is this one type of autism, and there are probably a score of other genetic abnormalities that can result in different types of autism but aren't currently recognized?



Ferdinando
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07 Oct 2010, 8:26 pm

What the hello kitty is Fragile X?


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buryuntime
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07 Oct 2010, 8:32 pm

Ferdinando wrote:
What the hello kitty is Fragile X?

http://en.wikipedia.org/wiki/Fragile_X

I never really see it discussed on here which I find unusual because of its link with autism (unless some other term is being used). I don't know much about it but I assume it is because it's probably more "LFA" for lack of better words.



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07 Oct 2010, 8:32 pm

Doesn't describe me at all.

I guess that's good.


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gramirez
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07 Oct 2010, 8:56 pm

buryuntime wrote:
I never really see it discussed on here which I find unusual because of its link with autism (unless some other term is being used).


I'm also surprised it's never been discussed here. My psych suggested I get a blood test for it, but I forgot. Many of the symptoms describe me, and a lot of other autistics I've seen..


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conan
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07 Oct 2010, 10:13 pm

as far as i know it accounts for 3% of diagnosed autistic individuals



buryuntime
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07 Oct 2010, 10:39 pm

gramirez wrote:
buryuntime wrote:
I never really see it discussed on here which I find unusual because of its link with autism (unless some other term is being used).


I'm also surprised it's never been discussed here. My psych suggested I get a blood test for it, but I forgot. Many of the symptoms describe me, and a lot of other autistics I've seen..

By symptoms do you mean physical characteristics or anything else?

Was anyone else asked or tested for Fragile X upon being diagnosed with autism? The Fragile X information site stated that anyone diagnosed with autism should be tested for it.



Callista
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08 Oct 2010, 1:59 am

Yeah, Fragile X can be one cause of autism. It's actually the major one we know of right now. (Down syndrome is also associated with autism.) The vast majority of cases of autism don't have a known genetic cause, though; all we can say is "Well, we know from twin studies that autism is almost all genetic," and realize that there are probably hundreds of different genes involved and interacting in different patterns.


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08 Oct 2010, 2:32 am

I'm still perplexed as to why a certain doctor thought I had it, as I don't look anything at all like they describe, and neither do my parents.

But then again, IIRC, that was around the same time as my mother took me to a homeopath.


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y-pod
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08 Oct 2010, 4:02 am

I think the doctors here order that for all autism suspects. :) My first son had the test and he didn't have it. I wonder if my second son would have it or not, I know for certain he inherited the other X. He does have soft skin and flexible joints, but nothing else.



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08 Oct 2010, 5:32 am

My son got the tests done, and he didn't have it, but even before that the Dr was almost certain he didn't have it due to his 'morphology' (I think thats what he said). I googled Fragile X and there are some facial characteristics that are strongly identified with it. Of course for the duration while I was waiting for the test results which took weeks, I was freaking out that he might have it so I did loads more googling and looked at lots of images. Recently I saw a youth at the swimming pool, and his behaviour was clearly developmentally delayed and his physical characteristics were just like I had seen in the images.



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08 Oct 2010, 6:04 am

Fragile X is a condition caused by abnormally long extension of a triplet nucleotide repeat on the X chromosome. Mostly males are affected as they don't have an additional X chromosome to make up for the defect.

Fragile X hereditary and might be passed by healthy females to their sons. Trouble is, most of the times the carrier female does not know that she's a carreir until she's had a sick boy. On genetic testing, her own triplet repeat might be slightly extended in length or within normal range. The reason for her having children with the fragile X is that the nucleotide triplet expands between generations (sorry, if I have to explain it properly I will have to use a lot of additional terminology). Usually, once a woman has had one sick son she is considered a carrier (though it might not be the case but if further details are needed, I am ready to elaborate on this).
Usually, the risk of a female carrier having a child with fragile X is about 25 % for all children and 50 % for the boys. It must be considered, however, that while girls don't usually have manifest disease, they might have inherited a defective X chromosome which, in turn, might result in them having sons with Fragile X.

I provide brief synopsis of the clinical features that are characteristic of the Fragile X syndrome in boys:
Affected male individuals may have long face, high forehead, large mouth with long upper middle incisors, thick lips, high-arched palate, large jaw with prominent chin, and large ears. A lot of the affected males have macroorchidism (enlarged testes).
Mental retardation could be very variable, but language development is usually very delayed. Motor development is often delayed.
Source: Online Mendelian Inheritance In Men (OMIM).

The late language and motor development is sometimes mistaken for signs of autism in young boys, as the characteristic face features usually become more prominent later in life and the macroorchidism would not show until puberty. Fragile X, however, can be diagnosed definitively by chromosome tests and it is not considered to be related to autism. That is, the affected individuals might exhibit some characteristics which are common in autism, but that does not mean that they are autistic. (For an example, autistic people might look and act as mentally retarded people (and by Jove, I am sure that everybody on the spectrum has at least once been caled 'retard' but mental retardation is not an obligatory feature in autism, on the contrary, autists and Aspies often have normal to superior intelligence).

There are prenatal tests for detection of a male fetus affected by fragile X early in pregnancy and they are done practically in all genetic centers or genetics departments of large ob/gyn clinics. While there aren't tests for autism yet, even though we know that it is highly hereditary.

Anyway, official medicine does not recognise Fragile X to be part of the autistic spectrum disorders. Neither is Down syndrome, as a matter of fact. You only have a limited set of neurological disfunction that are not that severe so as to allow the affected individual to live beyond intrauterine life and early infancy. It's not that strange then that we might have symptoms that are common between several different disorders.