Tag Archives: Additional Details

Question?: Autism Symptoms In 7 Year Old

Helen asks…

7 year old assumed to have autism then pervasive developmental and then aspergers?

7 year old assumed to have autism pervasive developmental and aspergers?
for 6 1/2 years my son was assumed to have these three illnesses.but when a genetic test was performed it disclosed no fragile x and normal chromosones.so when i called back to the pediatric neurologist from 5 years ago (July,2006) who said my son had autism and fragile x within a 10 minute hospital visit I was confused from what the genetic counselor 2 days ago.He was also told to have pdd( May2009)and August 2011 while in the psychiatric unit was said to aspergers.But from the genetic counselor I was told you have a normal child with a behavior problem that he might have inherited a gene from his father But because of your insurance limitation we cant further research because it will cost thousands of dollars so lets call it the last name aspergers’s.Then the pediatrician from the same hospital said well your son’s behavior is out of my league let’s call it autism spectrum disorder dont waste your money spending thousands of dollars to do further research.I don’t know what to as a mother who has tried every medication every early child intervention,4 public schools 2 0 3 psychiatrists and psychologists.The genetic counselor said well you didn’t know what the cards were going to deal me because I was a rape victim by this child father 2 times while was conceived and when the child was 4 years old .the father found out where I lived at.I explained to the genetic counselor what I seen in the 52 years old I also see in the child.even him resembling the father.I’m 37 years old and dont know what to do.I dont know what to call what my son has I dont like sugar coating.
1 day ago- 3 days left to answer.
Additional Details
My son will be 8 in Nov. he was classified individually by different doctors for autism ,aspergers and pdd.I only see one symptom of that is behavior.His MRI in August 2011 came back normal.
He has normal set of chromosones and no fragile x.I dont see a sensory problem.I’m trying to explain this to the schools from the genetic doctors results.I could have said nothing of the results,but I did .I feel I have to lie about the truth vs the untruth.
18 hours ago
BN you heard my cry here.I have tried to talk to American psychological association.They act like they are stumped by my question of autism.Even the school psychologist at the board of education brushed me off by saying what is I can do for you.Then I called the doctor today who said Pdd 2/12 years ago he claim he forgot what he diagnosed him with.then the pediatric neurologist keep putting her nurse on the phone to explain fragile x when there no fragile x in his genetic test.I got a feeling these think I am going to SUE THEM.I even called a church for the right direction to go!! My heart is broken .I have advocated for something that may not exist.
Medicaid is what I have for my son.That’s why no further testing can be done.So I was told just call it aspegers by the genetic doctor or autism by the pediatrician.

admin answers:

The label may not really matter, what does matter is that your son receives treatment that does fit his needs and I’d check to make sure they ran the CORRECT Fragile X test (in that case the label DOES matter with the advances being made in research, the health conditions associated with fragile X and how you work with a child with FX, i.e., one should never force eye contact). Many neurologist still run a chromosome or micorarray analysis to test for FX and those tests are not reliable, too many false negatives. If they ran the correct test they should have given you CGG repeats – if they didn’t then I’d retest him using the FMR1 DNA test (aka Southern Blot with PCR analysis). There is a very active FB group the Fragile X Files, that you may be interested in, you may find additional support for dealing with behavior. I recommend the resource below, the columns are excellent I’d also recommend following some of the clinical trials associated with Fragile X and Autism on a new med STX209 (Arbaclofen) it may be out on the market within a year or two.

Please feel free to connect with me directly if you like. (((Hugs)))

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Question?: Rett Syndrome Research

Thomas asks…

With a NEGATIVE Fragile X blood test, could you still have autism?

I checked the test it does say FMR1- I see we did get eh right test by the Dan Marino Center in Weston, FL, Dr. Tuchman, good dr. He was the one that said my son did not have Autism, but did have speech delay and social dysfuntion. he had an MRI done too, everything normal. Prev neuro said aspergers, everyone after her said no way. who knows!

admin answers:

The very simplest answer is of course yes, Fragile X is only one of the known genetic causes of autism, there are other causes as well, some with a known genetic bases, some due to reasons the researchers still haven’t identified. If your child is female, it will be very important that they rule out Rett Syndrome.

First I must caution you on the results of the test, you need to ensure that they ran the FMR1 DNA test.

A chromosome analysis or microarray analysis CANNOT be used to test for Fragile X, they produce far too many FALSE negatives. The FMR1 DNA test is 99% accurate. Look at your test results, did they provide you with CGG repeat numbers, if they didn’t that’s a strong indication that they may not have ran the FMR1 DNA test.

You CANNOT diagnose Fragile X by physical traits, the physical traits are not always present. Some may never display them and many individuals who DO NOT have fragile X may have long faces and large ears. With some individuals they may grow into the physical traits during puberty.

Chromosome analysis and microarray analysis are far more expensive than a FMR1 DNA test, the fragile X test may run as little as $200 to as much as $600, and if anyone is interested I know of a research study that will do the screening for mothers to determine if they are a carrier for FREE. Just connect with me through the e-mail option.

Additional details: Emma glad they ran the FMR1 test, sounds like you’re frustrated – which is very understandable since you’re looking for answers and coming up empty. I hope you don’t give up, some may feel a reason isn’t important but if there is a reason you should find out just to be aware of other medical conditions that may accompany the reason. Do you know what other tests the doctor ran? At this time if he/she didn’t complete a chromosome analysis or microarray analysis you may wish to have them done. You might also want to visit a genetic counselor just to rule out other conditions that may present with autism characteristics. Good luck and hugs.

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