Fragile X girls? | Autism PDD

Linda--I hadn't thought of Fragile X until reading about it on this board a
couple months back. Our dd sees a geneticist 1 x a year (since 10 mos of
age, & follows up yearly until she is 6 or so), he has tested her for Rett
Syndrome, Angelman, Smith-Magenis, and the list goes on...and on... I
thought we literally had no stones unturned, until I read about Fragile X.
She has dysmorphic features, & a lot of similar features & symptoms on
there. I was planning on asking him about it at our next appt. It's at least
ruling out, I feel. I'll keep ya posted.

http://www.amazon.com/Dear-Megan-Letters-Fragile-Capital/dp/ 1933102233

This book is written by two moms of Fragile X boys. These boys were born about 10 years apart, as I remember, so their and their moms' experiences were different. Both of the moms are carriers (Fragile X is passed on thru the mom, but the effects are seen in the boys). I heard these moms interviewed on the radio and what they had to say was fascinating. The older mom described the fact that she thinks differently than other people, tho no one would say she is diagosable. However, she sees these differences as manifestations of Fragile X in her.

Fragile X was discovered when medical science was searching for the answer to why are there more boys who suffer from mental retardation than girls? The answer that was discovered is that Fragile X exists. Boys have only one copy of the X chromosome -- the other is a Y, which is what makes them boys. Girls have two X's. This means that if one X is fragile, there is another X to take over. Not so for boys, so they suffer the full effects of the chrpmosomal abnormality. Girls don't. Of course, there are tons of unnamed chromosomal abnormalities that can affect girls and cause dysmorphia, not just Fragile X. The most famous is, of course, Down Syndrome. But many of the chromosomal abnormalities effect so few kids, there are not names for these disorders. Doctors will sometimes make a note on a child's file -- FLK -- Funny Looking Kid, meaning a chromosomal abnormality is suspected. One that causes dysmorphia.

It's easy to test for Fragile X. I forget whether it's a blood test or a urine test (my son had both fluids taken at the time since he was having several different tests), but it's no more complicated than that.

The truth is that whether a child's autistic-like symptoms are caused by Fragile X or not is immaterial to treatment. Of course, as you point out, it's important to know for future childbearing (for you, too). I believe that you can get yourself tested to see if you're a carrier since Fragile X is passed through mitochondrial DNA, the mother's side. But addressing whatever issues your child has has far more to do with the education system than the medical system, so don't worry about not knowing in order to help your daughter. She will get whatever help she needs without a genetic test.Well since mine is adopted, testing ME will do no good ... SIGH. Still gotta persuade DH.Micki, did your son test positive?I have to disagree with tzoya - either parent can be the carrier (it comes
from a mutated X, which males have too). Males are usually more affected
(since they only have one x instead of two) . But the level of affectedness
(word?) depends on the number of permutations. Every time fragile x is
past on to the next generation that number increases and the child is
typically more affected than the parent.
My ds was tested for fragile X - it was a simple bloodtest - nothing too
fancy.OK. I stand corrected if these are the facts. However, that still means that the parents can both be tested. www.fraxa.org would have all the correct info.I have two sons with fragile X, and a 7 year old niece with it. She does well academically, with the exception of math. She has a lot of social anxiety, poor abstract thinking skills, and immature social relationships. She is a wonderful little girl. I also have a grown cousin who has fragile X. She was only diagnosed a couple years ago, after my kids were diagnosed. She also has a brother with full mutation.BonBon - no he did not test positive. I think a lot of docs do a fragile x
test automatically if the kid has MR or a PDD. It is a simple bloodtest but
it costs a couple hundered dollars if anyone wants to do it out of pocket.
It really would not have changed anything about his treatment or
prognosis if he had tested positive. But it could have ment that other
family members might be affected and could pass it on.
I know a little about fragile X because I have a good friend who has
fragile X (as do some of her family). My parents were geneticly tested before they got married. Didn't have anything but my dad's side has 4 neurological disorders. My mom's side is Native American and they don't geneticly carry any bad genes. I've been tested too and so have my kids. All neg. No test exist for those 4 yet. I think it is important for family planning, and also having a medical diagnosis certainly might substantiate the need for school services. And of course if there are behavioral issues.Daniel's test was negative. I was epilpetic in childhood had that was why Daniel was tested in this also. micki, that sounds much like the woman I know, too. She was a little shy and thought of herself as kind of clumsy (socially and physically), but she performed well at a relatively demanding, technical job, worked well with everyone, etc. Her poor son, though is very severely affected.

Yes mood disorder and early menopause are typical of fragile X. As is (UGH!) precocious puberty.

FragileX.org, interestingly, describes the symptoms as similar to, but not quite the same as, autism.

http://www.fragilex.org/html/autism.htm

foxl39310.5035185185I have an adult female friend who has fragile X ( a few members in her
familie have it).She found out by fluke. I don't think that she is struggling
more in her personal and professional life than others but possible some
of her struggles might be partialy due to fragile X (some depression and
anxiety as well as early menopause). She has a collage degree is
whipsmart and a great friend all around. She would discribe herself as
shy, though I don't think that she is unusually so.

Here is a community for people dealing with fragile X. You'd probably have better luck finding a girl somewhere like that maybe? ANyway..just in case no one posts here.

http://dailystrength.org/support/Genetic_Metabolic/Fragile_X _Syndrome/?gclid=CNqUtJzM-o0CFVB1OAodtjx2PQ

Karrie

Thanks!

The more I read, the more I suspect this is it!

Did she have the Fragile X test? It is a simple blood test.

We had Payne tested - he was negative - it takes 2-3 weeks to get the results on them. I was also tested in the meanwhile (mine was faster - a week) to make sure I wasn't a carrier or something. The girls don't have it - we know via a blood test. Worth checking into as it will have implications should she decide to have children later on in life.Oh, I do know a mother of a Fragile 'X' son, so I guess I do not a female with fragile x. I used to work with her - she was a technical writer. fred39310.4792939815We were told of the test but doctor didnt feel she had it because of her physical features..a friend of ours suspected autism in their daughter and it ended up being Retts syndrome. Wish I knew more about it.. Get her tested and let us know one way or another so we can learn together:)

Oh we will probably wait till her next peds appt. I hate dragging her around when there is no rush and the implications are really just for reproductive decision-making ... especially for a BLOOD draw.

I cannot believe I never looked into it before, but superficially it sounded not at all like her, till I read a description of girls within normal intelligence range. She has quite prominent ears and a high forehead (but a low hairline so it does not look like it). She certainly does not have a large head, however ...

I think we just all assumed that it was a birth injury, because of her other one. Or maybe not. Interesting parallel in that case though.

But while having "autism-like symptoms," they also have normal social inclinations ... but may be SHY, low eye contact ... and SELECTIVE MUTISM. Which is what I always suspected was behind her speech delays.

And ... it is dose-dependent so symptoms can REALLY range, a lot.

foxl39310.4745949074

Anyone got a fragile X girl? I was checking in a copy of Current Pediatric Diagnosis and Treatment ... and stumbled across their (nice nontechnical, for General Peds) description and OMG, T fits it more neatly than ANYTHING, so far!

Are you out there, would you like to compare notes?

I'm not sure. the reason they didn't send ds for genetic testing before (he has microcephaly) was because he doesn't have any dysmorphic features. I've thought about fragile x before...his appt is the 30th, I wonder if they will include that one.

Thanks, Tzoya!

T's social symptoms are atypical of ASD -- she loved and LOVES to be held, attached to us readily at 12 mos., and is humorous and sociable ... except (according to school) with peers. I do not see much to indicate this alleged disinterest in peers, however. FragileX.org mentions this, and also, Selective Mutism, which from the time I called EI, onward, I have ALWAYS suspected was the case with dd.

She is not macrocephalic, but does have an unusually high and narrow forehead, and her ears look JUST like a photo on the site!

I want to have her tested but DH is blowing a gasket. He is fearful that a "genetic diagnosis" would come back to bite her! I must give him time to get used to the idea ... But pointed out, she WILL need to know, before she hits childbearing age!

We are ready to test for this in our family as well.