RE: Kids w/ Classic Autism, PDD-NOS & Speech Delays

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I've never heard of it. What is it?

I'd never heard of it either, but it's a gene mutation and one of the common symptoms is choanal atresia (explanation to what that is here: http://www.youtube.com/watch?v=cTKAA4olLm0) that is the birth defect I had but I didn't know the proper name for til yesterday (I was 16 before I got mine fixed, idiot doctors kept prescribing me decongestants!). When I was researching that CHARGE syndrome kept coming up and I realized I had more than one symptom of that. I also have a duplex kidney and a deformed uterus - but they've never given me a problem so I didn't know about them until I got pregnant - short stature is another symptom, I'm 4 ft 8, autism is another symptom and I'm Aspie. Other problems associated with it are deformities in the eyes, ears and heart - I don't have problems with any of those things, but I didn't know I had problems with my kidneys or uterus either until someone took the time to look at them - I could very well have more issues I'm unaware of. I worked for an eye doctor for a long time and vaguely remember him telling me he saw something unusual with my eyes but my vision is very good so it was minor to the point of being inconsequential, if it was a coloboma then it would explain my night blindness and mean that I almost certainly have CHARGE. I'm debating on whether or not I want to ask him if I have it, it's such a weird question. When people have a more profound case of it their appearance is affected and they can be blind, deaf, have serious heart problems and mental retardation.

And it occurs in about 1 in 10,000 births, choanal atresia is about 1 in 7,000 births.

Ironically what I was really trying to find out at the time was whether or not Lorazepam could affect sperm because my husband was on it when my son was conceived and we saw a commercial looking for people to take part in a lawsuit recently saying a whole bunch of similar drugs were responsible for birth defects including autism - but to the best of my knowledge they meant when the mother was taking them, not the father. Somewhere in that mess I spotted the word atresia and had always thought my surgeon called what I had an abtresian so when I did my searches nothing came up so I tried the new word instead and eureka.

Interesting, thanks for sharing. I checked it on Wikipedia. If it's genetically dominant than yeah, I would assume a child who gets the mutated gene would be affected.

Thing is he just has the autism traits and no obvious birth defects so I don't know how much one thing has to do with the other.

Might be worth looking into if you think it's the cause of his problems.

Might be worth looking into if you think it's the cause of his problems.[/quote

I personally think that genetics are at the root of most cases of autism, but it is not usually caused by just one gene. I've heard of the concept of "gene loading" to explain why some people are more autistic than others and why siblings sometimes turn out to have some autistic traits, mental health issues, speech issues, or learning disabilities but not full-blown autism.

I think that the majority of minor issues go undiagnosed, making it sometimes seem that a case of autism came out of nowhere. (My own family history may have something to do with this view. )

Autism is also associated with things like prematurity, fetal alcohol syndrome, and the "crack baby" thing, all of which could cause brain damage.

I don't know, if I find I do have a small colombola on my eye maybe I'll email the neurologist that diagnosed my son to let him know and see if he knows anything about children of people with CHARGE syndrome .... his father has anxiety and OCD so I wouldn't be surprised if we both have mutated genes that played off each other. I don't think it's all genetics though, I think the environment and genetics go hand in hand and when something in the environment isn't right that can affect the genetics in susceptible individuals - so I'm still curious what effect the Lorazepam had.

Of course, I think that the child's environment after he or she is born and early intervention can make a huge difference, as can malnurishment of the mom during pregnancy, etc. Also, some people are very different as adults than they were as young kids, and you'd never suspect that they had speech difficulties or whatever as a child.

So yesterday we were in the drug store and my son accidentally knocked something off a shelf. He said "whoops," picked it up, and put it back. I never taught him to do this. (He has done this before but not in a while.) I have the feeling even most NT kids don't do this.

Mine does that too. Then again mine also deliberately knocks things over and pulls things out (at home, not in stores) says "whoops" and doesn't put anything way more often than the later .....

Ha ha, yeah, mine makes a huge mess at home too.

My older son with classic autism will try to clean up if asked, but he never quite finishes the job or attends to all the details. (Always leaves a few pieces of the game on the floor, etc.)

My youngest just says, "You do it!" when ordered to clean up one of his many messes. I have to use threats of punishment (no computer until you put the fake food back under the fake sink--I cannot just say clean up--I have to get detailed) or promises of rewards (you get three Skittles candies if you pick up your Lincoln Logs and put them in the bucket) to get him to clean up his own toys off of the floor.

My son has been doing something else new. He will say "I Elmo" and then start acting out something from an Elmo (Sesame Street) video.

In other news in regards to my move back to the US, we are having issues with the Mrs.'s visa. Turns out the process for permanent residence visas has changed, so instead of going to the local embassy we have to send the application to a central office in the US! So the process can take up to six months now... *sigh* We MAY be able to petition to get this done faster as my son has a condition...may end up having to use an immigration lawyer.... *double sigh*...

That sounds really cute. We got a free app from Starbucks for an interactive version of "The Monster at the End of this Book" a few days ago and now my son has most of it memorized and sometimes when he reads along he even talks in a Grover voice.

I don't know what to say about the Visa, that's sounds very stressful. I hope you can get it all sorted out without having to go through too much trouble.