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Old 01-10-2012, 10:58 AM   #1
persimmondeb
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Do you ever feel like 'autism' doesn't quite describe your child's diagnosis?

And it's not that I feel the doctors haven't done their jobs. We've gone to a bunch of them and I've thought most of them are competent, I've done a lot of my own reading, and my brother-in-law is a microbiologist with a specialty in genetics.

Long story short, the pediatrician caught something a little off at his two year old check-up, and we had 16 million kinds of blood work and other tests and visited a geneticist and a pediatric neurologist. The geneticist was a little suspicious of a chromosomal disorder called Sotos (which hasn't been ruled out and can't be tested for) but had no other ideas. The pediatric neurologist said he was not autistic (and it is my belief that the screening was properly conducted and that the results were consistent with that) but he was a little behind on language.

Fast forward to pre-k. The school thought he was a little behind, especially with language and motor skills, and arranged for early intervention. Then we did Special-Ed kindergarten, where they felt he was up to grade-level, but would benefit from the small class, so we kept with the Special Ed. For first grade we switched districts, and the new district insisted he was about half a year behind academically (which I really think was a curriculum gap, but they weren't having any). We didn't love that teacher, but she got him up to speed, and they started to mainstream him. Second grade was okay, since he spent half the day in the regular classroom and half in the special Ed. Third was not, since the idea was that he would spend the whole day in a class with twenty five other children, and an hour or so in a small group getting the extra help he didn't actually need. Absolutely awful for all involved. We had been resistant to medication (and finally bit the bullet later that year) but some glue might have been helpful.

After some gyrations he ended up in an emotional support class, and we went to another pediatric neurologist, who put him tentatively on the spectrum, and diagnosed ataxia and mild ADD, among other things. The teacher in the support class was absolutely wonderful, and he looked mainstreamable at that point (and still is academically), but he preferred the idea of a smaller classroom and other children with disabilities, rather than being thrown into the swim, and he has been in a special ed school for middle and high school, which he enjoys very much.

He's a good looking kid, but his face is made a little bit differently from most peoples (he has an anti-mongoloid slant, and his soft palate and the way his tongue is attached is a little funny), and it was fairly noticeable between two and three, then became less so, and is now becoming more so in his teens. He largely caught up with other kids in the elementary years, and until about twelve or thirteen, didn't seem THAT different from other kids. Big, quirky, a little clumsy with minor, specific developmental delays and a mild speech impairment.

He always had a phenomenal memory, but he didn't develop that flat "Rainman" affect until he was about ten or eleven, and tends only to do it when he's stressed out or reciting a complicated list from memory. He's intellectually able, and will graduate on time, but at this point he's running several years behind developmentally in a lot of areas and it's been obvious that his friends (many with more functional issues) are growing up and he isn't. He's not interested in girls (or boys either, near as I can tell), he plays with toys, and he's still very Mommy and Daddy focused.

As a baby he liked faces, made eye contact, and played with toys in a normal way (he sometimes made 'trains' with blocks, etc, but he was also perfectly happy to build towers). He's not socially normal, but the developmental delays are often more obvious than the autistic tendencies. I tend to assume something must not have coded quite the way it's supposed to, but either it must be a very rare misfire, or people with it normally fly beneath the radar, or it's an atypical presentation of Sotos.

We've seen more doctors in the last couple of years, mostly because we switched practices, and they tend to agree, but whatever it is did not show up on a chromosomal micro-array, and apparently his mitochondria are also normal. I really tend not to think that they dropped the ball, but that they don't have any better of an answer than I do. The real worry, of course, is that whatever is going on is degenerative, with was some of the reason for the recent diagnosis chasing, but they can now tell me that they're pretty sure it isn't.

I have no issues with calling him HFA, Asperger's, mild ASD, etc. and I use all of them at various times, it gets him the services he needs, and while mild DD is more descriptive in a lot of ways, it implies cognitive issues that he does not have. My real frustration is that not only can no-one else tell me exactly what's going on (and I' m okay with that-the medical profession is not omniscient and I don't expect them to be), no-one else seems to have a kid like this!
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Old 01-10-2012, 05:16 PM   #2
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I know what you mean. My DS 17 was diagnosed with PDD-NOS, but that never seemed like a perfect fit. My son doesn't seem to have much interest girls and has friends in school, but not out of school. He likes the company of his video games, his cat and his parents. Sometimes I think what we see is just a "combo effect" of more than one delay at a time.
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Old 01-11-2012, 09:56 AM   #3
persimmondeb
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I think you're right about the combo effect. I also occasionally wonder if something happened that normally results in mental retardation (Sotos can sometimes) and didn't in his case. Not only is he smart, he's organizationally competent and responsible, but he's really, really childlike in a lot ways. Not just the not moving into some version of normal teenage behavior, but after he finishes digging in the sand with those pre-schoolers, he would like a sticker and a balloon and some mickey sprinkles on that.

This last year we went to visit some relatives in Ireland and an old friend and her parents in Nevada. These were people who had heard a fair amount about him but in one case had never met him, and in the other hadn't seen him since he was very small. I think both of them were expecting that aloof, socially awkward, intellectually focussed typical Aspie, and were really surprised by my sweet, sunny, giggly guy who runs off to the play equipment while the grown-ups talk, falls asleep in the car, and would like to visit every toy and candy store he passes.

I should count my blessings, rather than complain, since he's a delightful kid in a lot of ways, but I do worry about him functioning in a larger society.
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Old 01-11-2012, 07:13 PM   #4
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ASD is by its nature a combination of a bunch of factors so throw on anything else, let alone natural personality differneces and who can tell what is what, that is why all of our kids are so different
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Old 01-11-2012, 07:54 PM   #5
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Have you ever taken him to a geneticist? The fact that you're describing fairly distinct facial features makes me wonder if rather than being straight-up ASD, it's a genetic condition which either has ASD as a coponent or that has similar symptoms. (I'm not sure he fits the one I know of off the top of my head, but there are quite a few out there)
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Old 01-11-2012, 09:14 PM   #6
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He has been to a geneticist (and it is my brother-in-law's specialty, although he is a PhD, not an MD) and Sotos seems to be the most likely known syndrome, but he's not a perfect fit, since his lower face doesn't fit the standard morphology, and he is more big all over rather than tall and lanky, and his IQ is probably around the top recorded. He does have issues with his fingernails and with his baby teeth, which seem to be common, but there is currently no test, and since it's both rare and benign, no one seems to be very motivated to conduct research.
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Old 01-12-2012, 01:59 AM   #7
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Quote:
Originally Posted by persimmondeb View Post
I think you're right about the combo effect. I also occasionally wonder if something happened that normally results in mental retardation (Sotos can sometimes) and didn't in his case. Not only is he smart, he's organizationally competent and responsible, but he's really, really childlike in a lot ways.

[...]

These were people who had heard a fair amount about him but in one case had never met him, and in the other hadn't seen him since he was very small. I think both of them were expecting that aloof, socially awkward, intellectually focussed typical Aspie, and were really surprised by my sweet, sunny, giggly guy who runs off to the play equipment while the grown-ups talk, falls asleep in the car, and would like to visit every toy and candy store he passes.
In a sense, he actually sounds a lot like me when I was young... and like a number of autistic children I've known...

I think the Aspie stereotype has left a lot of verbal autistic people out in the cold, thinking that the only way to be a verbal autistic person is to be a stereotypical Asperger's person when that just isn't true.

I have an extra female chromosome, but I don't think that accounts for not fitting a stereotype...
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Old 01-12-2012, 10:24 AM   #8
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Well, we're quite sure he doesn't have trisomy X.

I have met other verbal autistic people who weren't aloof, particularly some of the adult alumni who hang out at his school. There's a very friendly woman who chats away a mile a minute (in the complete absence of social cues, but she's very sweet) and I'm particularly thinking of her. He's not really like that, either.

I'm not convinced the diagnosis is completely wrong-he doesn't stim, but he does sing to himself, and he definitely has sensory issues, but it doesn't seem to explain the whole picture.

For one thing, he really enjoys playing with other children, and will pick up into whatever game is going on in the playground, and play appropriately, usually with a group of children of various ages, all much younger than him. And I'm not sure I was clear about his age before, but this is a sixteen and a half year old.

And it's not just that he reads well and can do grade-level work, he's responsible for his own school assignments, may be able to drive, took the PSATS without accommodations, and will often perform household tasks without prompting. In many ways he's higher functioning than half the "normal" kids in the neighborhood, except that he's still a little boy, and we are starting to think he always may be.
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Old 01-16-2012, 01:46 PM   #9
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I've been working with special needs preschoolers for 10 years. We seem to be seeing more "combo kids" in the past few years, where a specific diagnosis doesn't seem to completely fit. When the district psych and speech therapist evaluates them, they generally give one primary diagnosis. Then we see the kid in our classroom for a few months and the diagnosis doesn't always seem to fit. We start thinking, "Well, it looks like a little of this, but he's also doing this and he's delayed on that..." Some kids are truly like puzzles that you have to figure out. Some parents vigorously pursue outside resources to try to determine the actual diagnosis. Others are more focused on whether the child's needs are being met, regardless of what's going on.

My own son was never a "combo kid." It was pretty clear early on that he was on the spectrum. When he was 7, the IEP team settled on Asperger's. At 16, it's very apparent that he's an Asperger's kid. His diagnosis definitely "evolved" over time, but we never questioned it.
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Old 01-27-2012, 05:54 AM   #10
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I would ask for them to do more chromosomal testing. I just went through this with my special needs granddaughter. From the time she was 2, I knew something was off. After going different routes trying to get a diagnosis, I was able to get the testing done. She was just recently diagnosed with having a duplication of Chromosome 2P which is very rare and little is known about it. It does have characteristics like being on the spectrum, although she is considered not to be.

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Old 01-27-2012, 10:38 AM   #11
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Originally Posted by Luv Bunnies View Post
I've been working with special needs preschoolers for 10 years. We seem to be seeing more "combo kids" in the past few years, where a specific diagnosis doesn't seem to completely fit. When the district psych and speech therapist evaluates them, they generally give one primary diagnosis. Then we see the kid in our classroom for a few months and the diagnosis doesn't always seem to fit. We start thinking, "Well, it looks like a little of this, but he's also doing this and he's delayed on that..." Some kids are truly like puzzles that you have to figure out. Some parents vigorously pursue outside resources to try to determine the actual diagnosis. Others are more focused on whether the child's needs are being met, regardless of what's going on.

My own son was never a "combo kid." It was pretty clear early on that he was on the spectrum. When he was 7, the IEP team settled on Asperger's. At 16, it's very apparent that he's an Asperger's kid. His diagnosis definitely "evolved" over time, but we never questioned it.
My school says they are seeing this as well. I have one of those "combo kids" that they tried to sweep under the ASD umbrella, with all the wrong treatments.

Luckily, we had great outside assessments, and we got a new IEP team that LISTENED, and they gave him the correct label (language disorder) and interventions.
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