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SN children

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Original poster

fragile x

20 replies

mixedemotions123 · 21/04/2006 14:15

The psychiatrist who dx my son as being asd, is suggesting having him tested for Fragile X Syndrome. She said it more in a way to be able to rule it out as a possible explanation for his problems, everyone involved with him have said that he is a mixed bag, and doesn't quite tick all of the boxes.
Has anyone else been down this route? She said that it may be tested by blood, if so, they have no chance. My ds would not let them anywhere near him. She was looking into whether or not it can be tested by a cheek swab. Just wondered if anyone else has had this test done, and what it entailed.

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redbull · 21/04/2006 15:48

we had this done for ds who also ASD its just really to rule anything else out as there are some very serious medical conditons out there that have the same symptoms of ASD dont worry fragile x isnt onw of them.
Its basicly routine for this to be done just to make 100%sure they have the correct diagnosis and nothing else is combined with ASD
\link{http://www.fragilex.org/html/what.htm\hope this helps}

Kelly1978 · 21/04/2006 15:50

ds has also been told to have this test, as he he doesn't tick allt he boxes for asd neither, so they are still debating. I wqas told it will be a normal blood test, same as an adult has. We're still waiting so I can't help any more than that.

Original poster

mixedemotions123 · 21/04/2006 16:49

thanks for your replies. I know these things are only done in the best interests of the children, but i just know from past experience that there is no way they will be able to give him a blood test, unless they sedate him without using a needle. It sounds extreme, his facial features do not sound anyway similar to fx, although a few other things do. My father has been having treatment for his memory for about 10 years now, but we have always felt it was his age. (74 now). The trouble is when you look at all the websites on these things, you seem to always find things that ring true, and scare yourself half to death.

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redbull · 21/04/2006 16:58

when my ds had his done they gave me anesthetic cream to put on him 1 hour before our appointment and he sat on his nanny knees i sat next to my mom and i gave ds a new toy to keep his eyes from woundering and from in between us the doc pulled his arm through so he couldnt see it he was distracted enough for her to do it and ds didnt even know what happened and belive me ds is a hand full like your sounds

redbull · 21/04/2006 16:59

And it was really done very fast!

Jimjamskeepingoffvaxthreads · 21/04/2006 19:33

DS1 has been tested.

His was a blood test- the hospital were excellent- they didn't bother with numbing him or anything as they thought it would stress him more they just held him down (3 of them) and did it really quickly (to give a comparison no-one has seen inside his mouth for 4 years, and his ears for 2, and when my gp tried to take his blood pressure he had to give up as did the hospital- but the blood test- they were very very good).

SqueakyCat · 22/04/2006 15:00

My DS was tested - blood test.
They did it at the pead dept, so the people were completely used to challenging children.
They offered an anaesthetic cream to put on 30 min before with a plaster on top - I decided this would bother DS more, so said no. So instead they used a numbing cold spray, held his arm still and took the samples. They had 3 people - one to hold, one to sample and one to distract him with toys and bubbles. He sat on my knee. Not one of the more pleasant experiences, but not a problem. I'm v glad we went to the paed dept though.
Getting a urine sample was almost as hard (not for fragile X, but for 'metabolic conditions' with similar symptoms)!

Original poster

mixedemotions123 · 22/04/2006 15:22

I didn't realise they had a spray. that would probably be easier. thanks for your replies everyone

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Davros · 22/04/2006 20:45

DS is terrible at blood tests which he must have done to check liver function while on medication. We do manage though with several adults and a very experienced nurse who is quick. No cream as he just rubs it off.
When he had his FX test done it was when he was having GA for something so they did it at the same time.
I've never heard that FX is considered if children don't fit the ASD profile exactly, I thought it was ruled out (or in) for all children with ASD for genetic info if more children considered. I'm not aware that it presents any differently but I'm sure I could be wrong, must have a look at the FX Soc website.

Jimjamskeepingoffvaxthreads · 22/04/2006 22:12

It kind of overlaps Davros, but you can be Frag X and not autistic.

Original poster

mixedemotions123 · 23/04/2006 07:18

davros, are the blood tests that your ds has due to him being on Risp? Hope you don't mind me asking, it's just that ds has been on it for 3 months, and nobody told us that he would have to have blood tests!!!
From what the psych told me, fragile x is usually tested for if a child is not showing ALL of the traits of being ASD, eg, my ds has quite good imagination which she feels is one area where he doesn't show asd. All a bit confusing really.

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redbull · 23/04/2006 07:34

my nextdoor neighbour looks arter her nepheuw and he is 8 and he has ASD and fragile x he goes to the same school as my ds, allthough he has severe ASD you can see the fragile x as his head his very large but he is a very sweet little boy allways says hello and gets excited when he sees his school bus and my ds

Davros · 23/04/2006 08:08

Mixedem, yes the blood tests are due to DS being on Risperidone. we were told from the day he started on it that he would need blood tests and so he's had them on average about every 6 months.
I always thought that FX "looks" the same as ASD although it is one of those many sub-groups that are being identified. I don't think I know a child with FX.

Kelly1978 · 23/04/2006 08:47

I was also told it was to rule out fragile x as the systoms are similar to ASD. Tho in my case they are also considering dyspraxia - I don't think they have a clue!

Original poster

mixedemotions123 · 23/04/2006 18:04

agree with you on that one kelly!
Davros, what do the blood tests check for? you have me worried now, the psych has never mentioned them at all to us!!!.
God its a minefield, I think that with FX, we will leave it until he is older. She said that the meds etc would all remain the same, its only when they have children of their own that he may need to know with it being genetic. He is only 7 so we have got plenty of time .

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bluebear · 23/04/2006 18:10

It is routine to test children with asd for fragile X and to have a general chromosome screen. It is rarely positive but is important as fragile X does overlap to some extent (and is not so easy to diagnose in younger patients) and it is an inherited condition so parents may want to have more information to plan if they want more children etc.

redbull · 23/04/2006 19:11

Davros and mixedemotions123 hope you dont me asking but why are your children on risperdone??
A family member is on it from mental health problems just curious about it

Original poster

mixedemotions123 · 24/04/2006 11:36

redbull, my son was prescribed it at 0.5ml dose, to try to alleviate his aggression and terrible anxiety. It seems to be having a good effect on the agg, but his anxiety is still crippling him. He is about to have his seventh birthday. We really did not want to go down the med route, and still feel bad about it now, but if it is helping him, who are we to deny him. . He has only been on it 3 months. He has just started to ride his bike without stabilisers, which 3 months ago terrified the life out of him.

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Davros · 24/04/2006 20:36

DS has blood tests to check liver function. Not an uncommon test for anyone who takes meds, I have them for taking Azathioprine. My DS also takes it for anxiety and aggression. The only thing I would say MixedEm, is if he's still crippled with anxiety he may need a higher dose. I've been all through the guilt, emotions, attempts to reduce the dose etc etc. But if you're going to give meds you should give the dose that works (not that I'm saying that's the issue, it just might be). I've got some friends whose DS has just started on Risperidone and they're going through all the same feelings and thoughts. My DS started on it when he was 8 and he will be 11 in August. Its only in the last 6 months that I would say we've become relaxed about it. We've had not problem accepting it and understanding what we're doing and why, but the way we have felt about it is not so easy as I'm sure you know.
(bit long this one!)

Original poster

mixedemotions123 · 25/04/2006 07:47

Davros
when I saw his Psych last week she did say that he could go up to as high as 1ml,but after such a short time taking it we are a bit reluctant. He seems so young. With your ds, did the effects seem to wear off gradually hence an increased dose? I don't know whether its just as they get older or if the problems step up a gear IYSWIM. Without a doubt it is helping him. We have seen a side to him that we didn't know existed. He seems happy to be cuddled, laughs and smiles and you can see in his eyes when he is happy. It's just the anxiety that is so cruel. We are in the final stages of our statutory asst and keeping everything crossed for him. If he doesn't get it, there is no doubt his anxiety is going to go through the roof. I am sure that is when the dose will HAVE to increase.
Thanks for your reply.

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