Genetic disorder May NOT just be Autism! | Autism PDD

Wow my son is aspbergers and no one said anything to me about genetic testing I assumed because hes high functioning. Ill look into this, thanks Updated the main post Merry :)
OK I am so sleepy, had a long day at the conference & driving back home on the interstate but I HAD to share this bit of info!
One session I went to today was my an M.D. & he said 40% of kids referred to him for Autism & Aspergers have an undiagnosed genetic disorder - that may NOT be picked by all genetic testing!!!!!
I spoke to him about my son & I will be having him tested at his Institute because his speech was so amazing & I really want to make sure there are not any underlying genetic causes. Fragile X is one of hundreds of things! Just because your Fragile X "genetic testing" was fine, doesn't mean there isn't something going on. Some genetic tests like those done at the walk-in type labs are NOT complete enough!

EDIT: OK here are some of the things at the conference that he mentioned:

Angelman
Retts
Smith-Magenis
Sotos
FG
Bannayan-Riley-Ruvalcaba
Cowden disease
Idiopathic autism w/ microcephaly
Tuberous Sclerosis
Neurofibromatosis
Chromosomal Mosaicism
Hypomelanosis of Ito

and some metabolic conditions including:
Mucopolysaccharidoses (how would you like to play Pictionary with that one? )
Smith-Lemli-Opitz
Landau-Kleffner disorder

also these following things can contribute:
Congenital rubella
Maternal hypothyroidism
Valproate
Thalidomide (as in history of in the fam & such also)
Ethanol
CMV
Untreated PKU (http://en.wikipedia.org/wiki/Phenylketonuria)
Fetal Rubella
and of course fragile XHope239333.8881481482Very interesting!! What should I ask for when we go for testing? I have heard of fragile X but I don't know what tests to ask for. Some of these disorders they check in the hosp., pku, blood disorders. My kids we checked for 12 blood disorders but they didn't check them for the dna genetic stuff. I was upset when I found out (a week ago). My parent were geneticly tested in the late 70's-80 but I found out that some of those genetic disorder (didn't have test back then). Sms, FISH does not run in families. My J is having the complete dna test (it checks for all dna genetic disorders, fish, x-fragile), MRI. Both my kids have normal face features and IQ).
I could not beleive they had for one of the disorder signs big lips. Not joking. Most people either have thin lips or big lips. I got big lips (mine are natural) but don't most movie-stars have surgery to have big lips? 1 sign does not mean you have it.
Our son was check for every single one of these and was negative. His Genetist said he is the most 'classical autism' person he has ever seen in 35 years of specialty practice!Personally I think that all forms of autism have genetic components. We
just do not know all of them yet.
In a few decades we can probably get testing for all kinds of disorders
and traits a (unborn) child will have. It will give a clearer picture for
diagnosis and treatment options but also open all kinds of cans of
worms. I think it will be one of the mixed blessings that comes out of
science.

[QUOTE=autumn]you would know or at least suspect if your child has fragile x, fragile x comes with mentail retardations[/QUOTE]

Not always ... Fragile X is dose-dependent (number of repeats) and on top of that, females may be virtually asymptomatic. I think basically ALL genetic syndromes are highly variable though. By definition, a syndrome is a "collection of symptoms," and most fo the time an incomplete laundry-list of them.

My greater concern though is the cost of testing for all of these!

well, I went through and googled each one. the cost of testing should be
small as most of these conditions have pretty distinct features. It's
excessively easy to rule them out in each case. Here is a genetic disorder to be checked for but it's extremely rare and I would REALLY recommend it if you live in US, Cananda and yes Native Amerians should be checked too. Tay-Sachs disease that is only bec there is no cure and the baby dies, this also causes SIDS. Both parents must be carriers, My great-grand mother had a child die from this at age 2. This is from my mom's side or no asbergers like my dad's side. My great grandmother was Canadian/French Native American and spoke 3 langs with English.

http://en.wikipedia.org/wiki/Tay-Sachs_disease

Thanks Hope2!! The conference must have been great and quite an opportunity for you to attend. Most of the conferences are so far away for us so it would involve hotels etc. with added costs that I haven't ever been to them but I love to get the information from others.

Thanks again, Merry

Merry39334.285625you would know or at least suspect if your child has fragile x, fragile x comes with mental retardation at some level, also an 'elongated' type face. autumn39334.4823842593

ps -

so does angelmans, and smith magenis they bite, hit or pull hair, yours and thiers, pretty feircely -

retts is females only -

Some of those conditions have variants that don't, and in some cases it's similar to autism - stuff that's mistaken for an intellectual disability but isn't.

Thanks for the list -- lots of things I had never heard of.

Here's a topic on our forum with a list of various biomedical tests (including genetic tests) sometimes done in connection with autism.

http://www.autism-pdd.net/forum/forum_posts.asp?TID=14004&am p;KW=biomedical