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Can anyone explain the difference between Fragile X and ASD???

14 replies

genieinabottle · 19/07/2010 00:16

Sorry, It's a bit of a complex question and couldn't word it as i wanted to in a short title.

Ds was recently dx with autism (DS is HF), and speech and language disorder.
ASD team paed said CP will arrnge for DS to be tested for Fragile X as there is a link between ASD and this condition. She didn't go into much details. So i went on the net to check out on Fragile X.

The way i understand it this condition brings speech and lang. delays, learning disability, sometimes autism or asd like behaviours, and a range of physical traits (large ears, large head, loose joints, some facial characteristics but not to the same degree in all the childrens).

I'm a bit confused. Yes DS has ASD, he is a bit 'gangly' but not too bad, he has a large head, and his ears are bigger than average but still in proportion to his head i'd say, but the main thing is DS does not have a learning disability.
He has learning difficulties due to his autism, but on non- verbal cognitive testing he came up average. So why would the paed still want DS to be tested for Fragile X ???

OP posts:
genieinabottle · 19/07/2010 00:22

I think my title is wrong ... should have said 'explain the link, similarities and differences between Fragile X and ASD'

OP posts:
lisad123isgoingcrazy · 19/07/2010 01:13

well I have only ever meant 2 children with fragile X before and both had LD that were easy to spot.
From my understand some doctors do the test as standard when giving a ASD dx before there are more health difficulties with Fragile X so they need to be sure. I could be wrong though

roundthebend4 · 19/07/2010 06:01

It seems to be a standard test ,they tested ds for it as was showing some add traits yet everyone that has/had met him was sure he wAs nit on the asd

onlyjoking9329 · 19/07/2010 06:47

My girls were tested for fragile x , because they wanted to rule it out and they can test by blood sample so it's easy to say either way. They have autism.

Spinkle · 19/07/2010 07:02

I think it's standard - ds is due to be tested for it.

It has genetic implications, which is why they have to be sure via a blood test.

ArthurPewty · 19/07/2010 07:27

This reply has been deleted

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roundthebend4 · 19/07/2010 08:20

Pretty much test any child with asd traits or GDD

magso · 19/07/2010 08:20

Fragile x is caused by a gene difference. It is the commonest cause of inherited ASD/LD, and because there is a test for it and it has implications for future children- well testing is often offered - to rule it out.

saintlydamemrsturnip · 19/07/2010 08:36

It's standard. Worth doing because it isn't always obvious from features (esp in young children) and if it came back positive you would (according to someone I met whose son's dx had changed from asd to frag x) find it much easier to access services

takemesomewheresunny · 19/07/2010 09:05

when refered to paed in our area they always carry out a blood test to check for fragile x.

BigWeeHag · 19/07/2010 11:17

DS1 was tested because the paed thought he was funny looking, but nothing came back as far as I know.

I've worked with lots of kids with Fragile X as it's reasonably common. Most of the children I have worked with have had brothers, uncles or cousins affected, as it is carried by the female line but shows up more in boys (as girls have another X chromosome to take up the slack IYKWIM) One family I worked with had 4 boys, 3 had Fragile X syndrome.

phlebas · 19/07/2010 12:10

never been suggested for ds - not surprising really as we live in shitsville.

Is it a spectrum condition? I have a friend whose ds is very severely affected

genieinabottle · 19/07/2010 12:27

Thanks for replies everyone.

Phlebas, i think it is a spectrum condition. Not all the children have the same degree of learning disability, and not all children display the facial features associated with Fragile X. From what i seemed to understand boys are 'usually' more affected than girls.

OP posts:
magso · 19/07/2010 14:09

I have a feeling it is more accurate to say Fragile X is a diagnostic syndrome. Many children with Fragile X also have ASD as part of their syndrome.
Ds has never been tested - although I have asked several times.

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