blood tests (asd)

[chocjunkie]

When reading on here i noticed a lot of your DC wth asd or delays had blood tests to check for any issues with their chromosomes.

Dd has autism, s/l delay and is also delayed in other areas. Probably also LD. We never had any blood tests. I know knowing about any chromosome abnormlities would not
bring a cure but i would like to know regardles.

Just wondered how standard these tests are for children like DD. Thinking about asking the paed to run blood tests. [Hmm]

I'm not sure how standard they are but I thought I'd reply anyway to give you my experience.

DS2 had problems from birth - GDD/LDs/missed milestones/S&L delay and he had blood and chromosome tests which came back normal when he was around 2 years old. He also had lumbar punctures and an MRI scan. Again all results normal.

At age 3 or 4 it was obvious to me he had autism. Earlier this year, at age 7, he was officially diagnosed with mid-low functioning autism.

That's just my experience. It will probably differ from county to county. Maybe someone else can help more.

Just to add my experience I have a son of seven with high functioning autism and a daughter of three who has just been diagnosed with autism .We were sent for a blood test in case there was a genetic issue

DS had his first appointment with developmental paed when he was 30 months. He agreeded with me that ds displayed a lot of autistic traits and it was obvious that he had developmental delay. He referred ds to a paed specailised in autism but also for routine blood tests and a specific test for fragil x.

I think you can definitely ask for blood tesds to be done, most children with delays do have them: the common genetic ones are microarray or Fish test. This is to check if there is an underying cause of the delay, such as fragile x, Williams syndrome etc. my ds also gdd in all areas had also lumbal punction done, nerve conduction studies and mri... However all came clear, which happens in about half of the cases. When we spoke to neurologist and geneticist, they explained there must be something causing the delay ( if there was no birth trauma/infection etc) but at the moment they don't know exactly what it is - but generics are evolving quite fast. Ds was also enrolled in DDD long term study - you can look it up and ask to join too, if the basic tests come back clear. Ds will be 3 in November, he is functioning at about 18-24 months now, I'm still getting over the fact that he'll never catch up 100 percent...

I had to ask for blood testing when DD#1 had her ASD diagnosis confirmed and it wasn't offered routinely. In her case it did show up a problem (16p11.2 deletion) and I pleased I now know even though I can not do anything to change it.

hi, another one here who got blood tests initially when 1yr old and not meeting milestones. These were 'basic' level tests and ruled out fragile x and major chromosomal issues (like if a whole chromosome was deleted or duplicated). Then at 2.5yrs dx of autism and another round of blood tests, this time CGH array, which did reveal a chromosomal problem. It didn't change much for ds1 as little is known about his specific irregularity and it didn't supercede or remove the autism dx. i'm glad we know about it as in our case i am a carrier, so that has implications for future pregnancies etc. The charity Unique is quite good and may be able to provide you with further info about any tests/studies that are available. hth

The paed that DD sees offered blood tests to us. We had them done because the paed had noted some mild dysmorphic features in DD (slightly down-turned mouth and slight twist to fingers), and because there is no diagnosed ASD in either DH or my immediate families. The results took a few months to come back but were all normal.
And if I do say so myself, her slightly down-turned mouth is very cute!