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SN children

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Original poster

did everyone get their ASD kids tested for Fragile X

19 replies

lisad123isasnuttyasaboxoffrogs · 13/01/2011 22:02

someone was surprised that neither of my girls have been tested for fragile X when dx with ASD.
Is this standard practice in most places?

OP posts:

cansu · 13/01/2011 22:05

It was mentionned when ds1 was diagnosed, but the paed did not seem to be very convincing and tbh I didn't see the need. Plus ds1 is very non compliant and I was not in the right state for anymore trauma at the time.

Agnesdipesto · 13/01/2011 22:07

no we were not offered testing
but then there was no obvious genetic history in our case - no family with ASD traits and we have 2 older NT children

coldtits · 13/01/2011 22:08

No ... didn't even know it was an option tbh, but Ds1 is on the HFA end of the scale - is that relevant?

borderslass · 13/01/2011 22:08

DS [16] was tested at 4 even though Dr didn't think it likely.

IndigoBell · 13/01/2011 22:25

DS was tested. Did seem to be a routine test. But when I looked it up Fragile X has distinctive features which DS didn't have, so I guess they were just doing a box ticking exercise.

If you're worried look it up and you'll see what I mean - you'll be able to tell straight away your DDs don't have it....

Original poster

lisad123isasnuttyasaboxoffrogs · 13/01/2011 22:33

i never gooogle as a rule but see what you mean now, i cant see that DDs would have it.

OP posts:

Eloise73 · 13/01/2011 22:36

Our paed asked for genetic testing and the fragile x test as dd was 18 months and completely living in her own little world. But at that point we were having our medical stuff done privately as it was covered on my insurance so not sure if this is something they commonly do on the NHS.

Thankfully everything came back fine and although dd has ASD she is mostly living in our world now, woo hoo!

Spinkle · 13/01/2011 23:18

As far as I know in this area all children dx'd with asd are routinely tested for fragile x.

coppertop · 13/01/2011 23:20

Mine weren't tested but I know of others with the same Paed who were.

silverfrog · 13/01/2011 23:31

dd1 wasn't for ages, and then we got lucky with a pro active community paed, who tutted lots when he read her notes (in a frustratd, how long have these parents been kept dangling kind of way), and ordered a whole load of tests. Fragile X was one.

she had been in the system for at least 18 months by that point htough, so obviously not a routine hting, and without lovely paed probably wouldn't have ever been tested...

1980Sport · 14/01/2011 08:23

My DS (2yo) is undergoing tests to determine the cause of GDD - the very first test he had was fragile x at 11 months our paed told us it was the biggest cause of developmental delay in children and although she didn't suspect it as the facial characteristics are quite prominent and recognisable there are cases when these are not present or don't show up until much later so it's always good to rule it out.

NorthernSky · 14/01/2011 10:27

This reply has been deleted

Message deleted

imawigglyworm · 14/01/2011 12:20

My dS wass tested for fragile x again due to GDD he has some mild facial charateristics but nothing that really matches fragile x. Ds still has no Dx and TBH I assumed it was routine too, but maybe only with specific characteristics. you could ask paed next time you visit? wouldnt hurt to?

Marne · 14/01/2011 12:36

Lisa- my girls have not been tested, paed has never mentioned frigile x (although i know about it from mn), my dd's don't have the characteristics of fragile x and i don't want to put them through blood tests. There is a strong family history of ASD in our family (dh is clearly on the spectrum, also myself, my step son and dh's aunt had a dd on the spectrum) so i have reason to suspect Fragile x.

ilovesprouts · 14/01/2011 21:32

imawigglyworm im in the same boat as you too:)

ArthurPewty · 15/01/2011 18:59

This reply has been deleted

Message withdrawn at poster's request.

JoMaman · 15/01/2011 22:12

ds1 was tested for fragile x and 'the other major genetic problems' (sorry - don't have any details of what they were) when he was 15mths with GDD and I was preg with ds2. All came back clear after an agonising wait.

Then he got dx ASD at 2.5yrs and we were offered more precise genetic testing. I think this was because of his GDD prior to the dx so he didn't fit the typical profile. And also because I kept pushing for what else could be tested for.

The test was called CGH Array, I have the impression its fairly new...

Anyway, he tested positive for a chromosomal imbalance which is rare and without name or prognosis.

Then me and dh got tested and it turns out i carry it in benign form but our other kids could have or carry it and my wider family could also carry it.

We were still reeling from ASD dx when we got all this news and it was gutting, but on balance i am glad we found out because it could impact my wider family e.g. helping cousins who are ttc and miscarrying a lot. The rare chromo charity Unique have been really good and to me any scrap of information that I can glean to help understand the pieces of his puzzle might one day be useful, although I can totally understand those who prefer not to test - for one thing the blood taking alone is hideously stressful for ds1.

Sorry for rambling on, hth

ouryve · 15/01/2011 23:41

Standard for both of my boys.

henryhsmum · 16/01/2011 12:09

Our paediatrician ordered it as part of a load of blood tests but it was negative

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