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DD1 possible aspergers chromosome testing

5 replies

newtothismum · 01/05/2010 22:19

Hi all, this is my first post, so hopefully its in the right place. If not maybe somebody would tell me where to post.
My DD1 who's 7 and in P2 has been put on level 2 of school duty of care and showing aspergers traits.
I took her to the GP who refered her and we were seen last week by a community paediatrician. The appt lasted about 1 1/2 hours and there were lots of questions about early development.
The paediatrician said that she thought that my DD was showing some traits and needed follow up she also wants to do chromosome testing.
What do I expect to happen next, I have no experiance in this at all but do know it's part of the autistic spectrum.
I don't know if it makes a difference but we live in Northern Ireland

OP posts:
claw3 · 02/05/2010 00:24

Hi newtothis and welcome. Chromosome testing is something that Paeds like to rule out to make sure nothing genetic is reasonable for your childs difficulties. They test for Fragile X and a few others, which display similar symptoms as autism.

Also Chromosome and genetic disorders are more common with autism ie child with a genetic disorder are more likely to have autism.

It takes a few months for results.

I wouldnt worry too much, it is standard practise to offer these tests to children who are suspected of autism.

For a diagnosis of ASD to be given, i think you need to have input from SALT and Psychologist or Paed. It might work a little differently in Ireland.

bubble2bubble · 02/05/2010 10:46

Hi Also in Northern Ireland {smile}
If the community paediatrician suspects ASD she will refer you to multi discipliary team - probably more senior pead, SLT and OT -which specialises in ASD diagnosis. They should have told you this though as I think they need your consent for the referral??
The wait for this varies between areas - for us it was about nine months ( NHSSB ) though in some boards I have heard it being twice this long. If your DD has not already been seen by the Educational Psychologist in school then the community paed will also do this referral though it will help if you can get the school on your side as they can normally speed this up a bit as well.

Good luck

newtothismum · 04/05/2010 21:18

Hi
I'm in the WHSSB saw Vivianne Dale within a month of doctor referral dispite being told waiting list was 2 years.
The school first brought this to my attention. It never dawned on me to look for a reason for her 'little quirks' or meltdowns I just put it down to thats the way she is and learned how to cope/deal with things.
Now in a way it's a relief but in another I don't want her treated any different if there's no need.
Dr Dale said that we'd get an appt put around Sept, but both her and the school assume that my DH and I know the whole process but we don't.
Whats SALT? will probally kick myself when I find out.
What other tests do they use to diagnose, will this require seeing her in a home enviroment.
Sorry for so many questions.

OP posts:
bubble2bubble · 05/05/2010 13:11

I think you need to speak to these people as things seem to vary wildly between boards. They have branches & local helplines all over. For example OT is practically non existent here but I've heard in the WHSSB not too bad, and with SLT the opposite seems to be the case ( Speech & Language Therapy )

If you haven't done it already I would suggest making an appointment with the school and getting them to explain the whole statementing process to you - expecting you to just know about these things is outrageous . You need to know where they are in the process, what help they intend to ask for and what the situation is with educational psychology. Unfortunately this is urgent now as you need to get some answers before the end of June or nothing will be done before school starts again in September.
I'm guessing they will refer your DD for an ADOS test - seems to be the norm here - but again you will need to check this. They probably won't come to your home as at her age they are more worried about how she behaves at school. Sorry can't be more help

SanctiMoanyArse · 05/05/2010 13:21

There are no tests to diagnose AS / Autism, only to rule out things like fragile x which might mimic it IYSWIM. There ar ehowever really widely tested diagnostic processes to pick iyt up- google DSM-IV Aspergers for the clinical diagnosis used, or perhaps ICD-10 Autism.

You could ask what tests your PAed useds- DISCO< ADI-R, ADOS etc- and then google for information.

To get a firmer idea as well google triad NAS.

Good luck; I ahve one with AS, one with Autism and some study in ASD so do feel free toa sk any q's.

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