Autism and Genetic Testing

[Noskcaj86]

Hi,

today we saw Jacks paediatrician. Hes being referred to a geneticist to be tested for fragile x and Retts syndrome, although she said these are unlikely and the tests are routine to rule them out. She is going to be discussing weather she has enough evidence to diagnose asd herself or weather Jack needs referring on to have more detailed assessments. I think we are finally getting somewhere. But she did mention it could still take a while...

Edited January 10, 2013 by Noskcaj86

[Noskcaj86]

Will they also test for any of these, i googled autism and related syndromes and all these came up?? tuberous sclerosis, Angelman syndrome, duplication of 15q11-q13, Down syndrome, San Filippo syndrome, MECP2 related disorders, phenylketonuria, Smith-Magenis syndrome, 22q13 deletion, adenylosuccinate lyase deficiency, Cohen syndrome, and Smith-Lemli-Opitz syndrome...

 

Not sure if they are relevent or not.

[smileyK]

Well at least the ball is rolling and process is in motion! Sounds positive way forward for jacks development stages if all other conditions are ruled out of situations then possibility of ASD more evident and real!

[Suze]

sorry if this causes any confusion, I have edited the title at Noskcaj86 request.

........(.hope thats ok for you Noskca )

[Noskcaj86]

Thanks Suze

[oakers]

Here's hoping that it doesn't take too long and things keep moving forward with regard to this. *fingers crossed*

[Soda]

My daughter was tested for Williams syndrome before they diagnosed autism 2 years later. The blood tests were very specialised and took about 8weeks and were thankfully negative. We have just been diagnosed as a result of CASBAT assessment. That took about 9 months from start to finish. I was expecting longer .

Good that things are moving forward for you.

Soda

[Noskcaj86]

Soda - was she only tested for williams syndrome? or were there other genetic tests? Hes already been tested for metabolic stuff but all negative. Now testing for genetic stuff... i dont think he has retts or fragile x but best to rule them out... Thanx

[Noskcaj86]

I should have asked paed if those were the only genetic things she was testing for... will ask when i next see/speak to her

[Sa Skimrande]

Soda - was she only tested for williams syndrome? or were there other genetic tests? Hes already been tested for metabolic stuff but all negative. Now testing for genetic stuff... i dont think he has retts or fragile x but best to rule them out... Thanx

 

Impressive the amount of testing for children's issues, it is nothing like that for adults, but anyway I researched it and I found it and it was proved, I have an extra X where the condition concerned some have learning difficulties that bear a striking resemblance to autistic spectrum disorders, where the authority concerned say it is nothing to do with ASD.

[Noskcaj86]

Sa Skimrende - how did they do you test?I presume it blood tests? Just that the paed didnt tell me how they would preform these tests. Thanx

[Noskcaj86]

And is that fragile x or a different syndrome? Sorry loads of questions... i havent researched things like this much so just starting out!

[Lyndalou]

Good luck with the testing...as Smiley said, at least the ball is now rolling. Are there specific reasons they are testing for these conditions? Are there physical signs the paediatritian is concerned about? My son received no genetic testing prior to his assessment for ASD so it would probably be worth just checking the reasons for this testing and also to ask if he will be tested for other syndromes/conditions too. It may be that this is simply how they go about the assessment process in your area.

 

Lynda

[Noskcaj86]

Yea, she said its the recomendations to test for these if assessing for ASD... She said she thinks that its unlikely he has either but that we have to rule them out.

[Sa Skimrande]

Sa Skimrende - how did they do you test?I presume it blood tests? Just that the paed didnt tell me how they would preform these tests. Thanx

 

Draw blood sample and karotype testing

 

And is that fragile x or a different syndrome? Sorry loads of questions... i havent researched things like this much so just starting out!

 

What is called Klinefelter's Syndrome but I don't have Klinefelter's Syndrome although the extra x made me an xxy male through 47,xxy. The problem is what is generally available on the internet regards 47,xxy and KS is about forty years out of date, not all xxy's have Klinefelter's Syndrome and I am one of them. You see the data on this thing is Dr Klinefelter's original paper, but he has since released another paper in 1985 that changes a lot of things, but no one appears to be taking much notice of the new findings.

Edited January 10, 2013 by Sa Skimrande

[Noskcaj86]

So from what im reading up on in google, Jack will have a karotype test and this will show up not only fragile x or rett syndrome (if there) but any syndrome that is tested for in this way??

 

Or am i wrong and its a more specific test directed at these 2 syndromes?

Edited January 11, 2013 by Noskcaj86

[Sa Skimrande]

So from what im reading up on in google, Jack will have a karotype test and this will show up not only fragile x or rett syndrome (if there) but any syndrome that is tested for in this way??

 

Or am i wrong and its a more specific test directed at these 2 syndromes?

 

Anything to do with chromosomal differences a Karyotype test is considered the gold standard test

 

I take it Jack is male, in which case Retts is usually particular to females and has been called the female autism because it displays autistic like behaviour, similarly Fragile X; autistic like behaviour but not generally limited to females and what I have 47, XXY again sometimes with autistic like behaviour.

 

As to whether these like behaviours is autism is a different matter, but it is good your doctor is going down the chromosome route first to identify possible chromosomal differences as to be diagnosed with ASD and treated as with ASD without knowing a persons Karyotype could ignore potential problems found particular to chromosomal syndromes.

 

For example I was diagnosed with Aspergers a full two years before I discovered something called Klinefelter's Syndrome through my own research into ASD which on reading the typical characteristics, I went hello these fit me and I never did find out why I was sterile and it would be good to answer that question given how much trouble it caused at least, but I left it alone. And then it was earlier this year I had a painful chest lump and I researched as usual before bothering GP's and the KS came up again through breast cancer, so off to the GP I went where I asked about KS, the doctor took my question seriously and asked a bunch of questions and on the strength of my answers it was agreed to start the testing process to be awarded a few months later with the fact I was indeed 47,XXY. The chest lump turned out to be an infection that was killed off with antibiotics, but my doctor said given what my karyotype is saying, look out for chest lumps, but I knew that already hence my going to the GP in the first place.

 

But of XXY there are a number of conditions XXY's can get to include Klinefelter's Syndrome itself, most seem to present with that, where I am lucky I don't have it.... yet, if my endocrine tests are correct ? Where the condition can present fun things like gynomastia- yeah breasts, diabetes mellitus, osteoporosis, rheumatoid arthritis, systemic lupus erythematosus, Sjogrens syndrome, chronic autoimmune thyroiditis, breast cancer, chronic bronchitis, bronchiaectasis, emphysema, and something to do with an underdeveloped aorta, so heart problems as well and germ cell tumor, ( this is my next testing due to high FSH but low LH and normal T). But you may notice in that unhappy list are conditions usually particular to female, now imagine a male getting such where in the case of say breast cancer there is no national preventative screening for males and precious little education to the fact males can get breast cancer where most males that get breast cancer actually die of it.

 

But KS can be treated with androgen replacement therapy and the earlier it is started the better, so diagnosed young everything should be okay, a kid can have a normal development and few problems thereafter.

 

So can you see the importance of questing a karyotype when there is suggestion of autistic like behaviour, for an ASD diagnosis can effectively mask something potentially more serious.

 

Chromosome analysis- Karyotyping

^ The US side of the site has more information than the UK side, as it seems is always the case and so I use US information.

Edited January 11, 2013 by Sa Skimrande

[Suze]

Hi, you could phone your peads secretary and mention you have a ton of questions etc to ask.I,m sure they will let you email or phone the pead to have a chat etc.I have done this with my daughters consultant (orthopeadic surgeon)..........and am now on first name terms with the secretary.........lol.....very often patients have a consultation and are so blown away by a diagnosis etc they forget all the questions they wanted to ask...........best wishes

[Soda]

No just the William's syndrome. And that was about 2 years ago. We have only just had the ASD diagnosis. So it's a long road. Like you have only just found the forum but am already really grateful for some super advice from people on here