In Autism, the main problem is getting the information from the brain to the world…much like a stroke patient however the problem being in a different area of the brain.

There is a wall that is put up for whatever reason as protection..some stimuli can get in and some cannot…like wise, some responses can be had and for others there is no response( such as we call normal).

You do not clarify what the problem is..this is the first step in securring an explaination. Remember a diagnosis is only an explaination..it is a road map to the next rest area where you can refreash yourself and gain strength. Do not allow a diagnosis to keep you from the problem..if you are on the road and you have to pee sometimes you can’t wait till you get to the rest stop you pull over and pee in the woods.

IM me @coolbeansnyc18201 and tell me the problem and I willsee if I can be helpful top you.

Don’t panic…all things are for a reason we sometimes don’t see yet.

Kabuki Syndrome, are genetic issues. A genetic work up can find some of these, it sounds as if one has already been performed.

Contrary to popular belief, no autism gene has been identified. There are some genetic conditions associated with autism, such as metabolic disorders. However, this is not across the board for every person with autism. There is no blood test for autism, and at the most basic level is a set of behavioral symptoms from the DSM-IV. One of the biggest and often times overlooked aspects of the diagnostics of autism in the DSM-IV is the last sentence, “…behaviors not accounted for by any other disorder.” In other words, if you have a genetic disorder and that disorder often has a set of behaviors similar to autism, technically it’s not autism, it’s the result of the disorder. Others feel autism is too often a lumping of a “we don’t know what he/she has so let’s call it autism.”

I would suggest this family take all their various tests and compile them. If they want to rule out autism, I would suggest seeing someone like Dr. Jeff Bradstreet in Melbourne, FL. I can also offer a listing of other “good” autism doctors in other parts of the country.

To think further about autism, I would consider these questions?

Does he make eye contact?

Is he verbal? If he is verbal, can he carry a conversation and not get stuck only on obsessive type conversations (I’m not sure the age of this child, I’m assuming several years old.)

Does he line up items or do other unusual things with his toys?

Does he have sensory issues? Examples include fears touching stuffed animals, afraid of playdoh (or he loves the fel so much he can’t stop), does he always want to be up high or fears things such as being held, walking up/down steps, etc? He may be prefer always being on his back laying down or not be able to sit still.

Seizures are common in those with autism by adulthood at approximately 40% rate. However, having seizures does not equate to having autism, but it is common, as are seizures with a variety of other problems.

Does he have digestive problems? Does he have chronic diarrhea and/or constipation?

Does he appear to have a hearing problem?

If the answer to most of these questions is “yes”, then he has some issues very consistent with autism. Typically a hearing test including a brain stem test, speech/language consultation, neurological with EEG & MRI (sounds like some of that may already be done) should all be done before a psychological consultation. The psychologist oftentimes diagnoses autism after all of these tests are done to rule out any other issues. Personally I think a good genetic workup for metabolic disorders should be done to help find any underlying issues.

I hope this helps answer some questions. Again, I would be glad to offer some names of other specialists throughout the US that might be able to help this family. Sounds like this little guy needs some help NOW!

I understand that you can have both – I am mother of a nine year old boy with Kabuki Syndrome. He is cognitively delayed and has autistic features which can be common in KS.

We started a website www.sakks.org, please visit. My contact details are there if you want to talk.

Peta.

I shall try to get a medical conclusion for your query.