Autism/fragile x

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Hi I hope this isn't a silly question... my son is having an assessment for autism next week and after doing a bit of research, if I knew nothing about autism I would be saying he must have fragile x. Would they assess for this automatically at his appointment or will I need to mention it.

My pead has looked at facial features etc but nothing unusual seen. However I have two boys with sn so now the baby is having genetics testing next week.

I suppose what I am asking is whether they will do a blood test on the day as this is the only way to diagnose? DS has never had a blood test and I am trying to be as prepared as possible. Or whether this would be a whole other referral and a different professional??

My DS had a blood test to check for fragile X and other chromosomal abnormalities as part of his journey to an ASD diagnosis. I think they explore every possibility.

If your DS needs a blood test its really not that bad. I got the GP to prescribe special cream - I can only recall it was called magic cream. You rub the cream on his arm an hour before the blood test and cover with cling film. It numbed the area. DS then sat straddling me and watched one nurse blow bubbles over his left shoulder while the other took blood from his right arm. All over in seconds and DS wasn't even aware they'd taken blood.

Don't know why I fretted about the blood test for weeks

I saw my pead last week and she talked about genetics testing four months ago. She gave us the paperwork but we couldn't get it done on the day as we need to leave the cream on for a hour and book a time slot. I'm not sure they would do it there and then.

Thanks 2boysnamedR and Levi174517

He may not even need it! Perhaps I should stop fretting

we had to push hard for a referral to genetics. I don't think it is done routinely and probably depends where you are.

Hi there. Is he having the ADOS assessment? I dont think they would do any genetics testing at that point. We got a separate referral to a geneticist who then did the testing for both Fragile X and Angleman syndrome.

Hi I don't know what assessment he is having to be honest, all I know is that it is an assessment for autism with the community paediatrics outpatient department. The appointment letter only states the time and where, no other information. Shame they don't send out a leaflet with what to expect, how long you may be there, what to bring etc. I'm glad he is too young to need to have the appointment explained to him as I wouldn't do a very good job!

Is there a number or person you could call to ask those questions - which arent in the least silly!

Is it your first pead appointment?

I have given up trying to call, the lady who deals with the appointments is never at her desk and I can't leave a message mumsuz

I have spoken to my health visitor who has advised me to bring his red book, I don't know what good that will do though however I have his baby book which I have filled in in quite detail and I also did the M CHAT form online and printed if off.

And yes are first pead appointment 2boysnamedR

Sounds like it is likely to be a more general discussion. And good that you have a detailed baby book with description/examples.

I hope it goes ok. There will always be people here to talk things through with afterwards.

yes, if it is the first paed appointment I would think too that it is only a general discussion and then some of the usual "wait and see".

good idea to take the red book with you esp as you have filled it in in detail. I would also make a list with all the concerns you have about your DS. it is so easy to forget to mention things during these appointments.

Oh dear, I do hope it is more than a general discussion, we have waited long enough, I need to know.

Sorry he did have a neuro assessment in January which I have just realised is under community paediatrics, however it was a different Borough, this appointment coming up is his first appointment in our new Borough.

The outcome of that neuro asessment was that he more than likely somewhere on the spectrum hence the referral for the autism assessment. He is 28 months.