Adventures in Misdiagnosis

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We've been trying to figure out some developmental problems our son has. We've gotten some very different stories from professionals, and some of it has been basic incompetence, as far as I can tell. (I've always been distrustful of the general medical community, and my experiences tend to support that distrust more often than not, even though the doctors we regularly see our excellent and trustworthy on most things.) We've been trying to discover just what the problems are and how we might go about addressing them and helping him to learn in the areas where he's been delayed.

First, our pediatrician told my wife (I wasn't present for this one) that everything she was telling him was consistent with normal development, but he referred us to a neurologist who (supposedly) would know more about developmental disorders. He later told us that he has no idea what to say about this sort of thing, so at least he acknowledged his inability to diagnose it.

It turns out I knew more than the specialist in this area. The neurologist was fairly incompetent, asking us some general questions and drawing unwarranted conclusions without probing into many areas that would have given a different story. He told us that Ethan is most definitely autistic, with no question at all in his mind. Then he told us that this was all based on what we told him, and nothing Ethan did while we were there contradicted it. What he didn't say is that what we told him was based on what he asked us, which I didn't think covered the spectrum nearly enough, and what Ethan did was based on the limited kind of interaction the neurologist tried to encourage (basically nothing). All the books and internet sources we've looked at suggest many areas that need to be explored to get a fuller sense of Ethan's capabilities and even interests that this guy didn't even bother to ask us about. What really got me is when I asked him if it could be Asperger's Syndrome and not autism, and he basically said that there's never any difference in language ability with Asperger's, which isn't true. Asperger's is defined as being like autism in many ways (though usually not as severe) except with no language issues in principle. There are still effects on language development (particularly with pronoun reversal, repetition rather than compositionality, etc.), but autism has language trouble in principle. It wasn't clear to me whether Ethan had troubles simply because of language inabilities or if it stemmed from other things. My first guess is the latter, which doesn't at all rule out Asperger's.

Well, the neurologist at least admitted that he couldn't get a good read on Ethan's cognitive abilities or social development possibilities, so he referred us to the school system to do a social and cognitive evaluation. The psychologist who did this had almost as limited a capacity to figure anything out as the neurologist. She tried to get him to do things but didn't realize that she needed first to get him to stop focusing on the first thing she wanted him to do, which was stack blocks. She didn't really try very hard to do this but simply kept asking him more questions that he wasn't paying attention to. This doesn't in itself reveal a lot about him, though it does show that he can get interested in something and not want to move to something else. It shows nothing about his capabilities, and it shows little about whether he can follow instructions except that sometimes he won't in fact do so. It's unclear whether it's a capability issue or whether it's a focusing/interest issue. She asked us a bunch of questions, most of which involved carefully qualified answers. She seemed not to be very busy writing down a lot of the qualifications, which suggests black-and-white all-or-nothing thinking.

She then told us he shows social delays and was willing to recommend us for help. We already knew that and came away from it thinking that her whole visit was a complete waste of time except for her recommendation that we get help from the school system. The real kicker is that she wrote a report to the people who ended up looking at him yesterday telling them to expect a kid who won't cooperate, refusing to do anything at all, showing absolutely no interaction with people, and focusing entirely on one thing. When we showed up yesterday, they were quickly shocked at what he was really like, given how she had described him in her report. I think it's no understatement to label that as incompetence, not so much in her observations of what happened but more in her methods of evaluating.

Yesterday two people evaluated him at once, a physical therapist looking at gross motor skills and an occupational therapist looking at fine motor skills and sensory integration. The gross motor skills showed no problem at all. In fact, he's even very good in those ways, not just ok. His climbing up stairs, walking, running, resting on a large ball and turning over, moving from one type of surface to another at a slightly different height, swinging, etc. were all very good for his age. Any awkwardness that's there is normal for a kid his age.

They both noticed that he's very active, interestedm and involved when his gross motor skills are in play. He's happy to play by himself for long periods of time and has no need of others, but he does love to interact with people in many ways. I'll open my arms and ask him if he wants to give Daddy a hug, and he gets a big smile on his face, opens his arms, and runs up to me to hug me. He loves to sit and cuddle on the couch with one of us with his duck in his hands, especially if it means he can go to sleep in company rather than alone (though he usually does fine going to sleep on his own). He very much enjoys being held up in the air, spun around, and that sort of thing. He likes to roll around, run, jump, climb stairs, and he thinks this is more fun when someone else is involved. He laughs and giggles a lot with his little brother, especially when they're left alone without us in the room. They'll bounce on the couch together when watching Veggie Tales. They'll giggle a lot when eating in the dining room and we're in another room. He's quite interactive in all these ways. All this makes the reports of both the neurologist and the psychologist seem extremely one-sided. Every specialist I've talked to who hasn't had a professional role in relation to us (including special education instructors, language and speech specialists, and social workers) have confirmed that he doesn't show typical autistic behavior, though he does show some delays in very particular ways.

The occupational therapist did manage to isolate a few issues of what's really going on. One is that he seems to have some sensory problems. When she spun him 10 times on the swing, she checked to see if his eyes dilated the normal way when she stopped him. Some kids don't do that properly. He did, but it was a little delayed. It took a few seconds before it happened instead of doing it immediately. This suggests that some of the sensory input, in this case from his ears related to balance, takes a while before it registers in his brain and then can affect the rest of his body. It explains why he used to have a delayed reaction hurting himself (when falling down or getting a scrape or cut). He really would look fine, and then the pain would start, and suddenly he would act the way most kids would almost immediately.

This is probably also related to his focusing in on one thing at a time. She tried a few times, unsuccessfuly but with different activities, to get him to do what she was doing (building a train out of blocks, which he just wanted to stack; using scissors to cut paper then offering the scissors to him, but he just wanted to hold the paper and turn it around, though he was interested in the cut she made but wouldn't try to do it himself; drawing a straight line or a circle, when he just wanted to scribble, though he did end up doing some straight lines eventually). She couldn't tell if his not responding to instructions or repeating her actions was due to an inability to understand what she wanted him to do or just lack of interest because of a problematic focus on something to the exclusion of anything else (or whether it was a combination of the two). Either way, there's a sensory issue, but the way the previous woman had described it is quite at odds with the report these two gave yesterday.

Her hypothesis, given the swing evidence, is that his brain has an internal map of his body and the various neural input sources from the senses, and his isn't quite tied together well. Sometimes information will come into the brain, and it won't associate it correctly immediately, so he has delayed reactions, trouble focusing when too much information comes in at once, difficulty coordinating his different senses, and so on. He went into the room and went over to the wall, banging his head against the wall a couple times. She thinks that might be an unconscious way for him to get a feel for where things are in the room, and he doesn't even realize he's doing it. The effect of all this is that he's not as good with fine motor control, he seems not to be as interested in fine motor activities, and he's extremely frustrated when trying to do certain activities that he's not as good at.

[I also have some degree of trouble in some of these issues myself, and they run in my family to some degree, though Ethan seems to be well behind in ways I never was (according to my mom, anyway). One of my brothers had fine motor problems when he started school, and he was functioning at a relatively normal level within a short time, I think. I have some of the sensory issues myself. I'll hit my hand against something and notice that it hurts but not bother to think anything of it, and then when I later notice bleeding I won't remember what I did to it. Sometimes I'll be focusing so much on something that I'll forget what's in my immediate environment and then make a rapid movement, knocking over a cup. Most people do this sort of thing. I do it a little more often than is normal.]

The good news is that we can help his brain develop these connections better by stimulating him in sensory ways, particularly with fine motor skills. She suggesting getting dried rice, beans, or noodles and burying his Veggie Tales toys in it to get him to search for it, and doing this with his vision blocked off to explore it by touch, since he knows what the toys feel like. I didn't look at any of the information they gave us yet, but she said that kids with these problems, when guided by occupational therapists and encouraged in the right ways, will show significant progress after a while. She thinks that if we start soon with this he'll be much better prepared for the kind of thing they would expect of him in kindergarten.

Next week he'll be evaluated by a language specialist. A friend of ours who does that sort of work, specifically with kids with issues like Ethan's, told us that his language skills seem more advanced than is typical with autism. These two evaluators yesterday seemed to think something similar about the way he interacted with them, and they noticed that he's much more interactive and much more likely to use words that relate to what he's doing when doing the kinds of activities they were doing with him, particularly the gross motor activities with movement and heavy activity. In other situations he just repeats things from TV commercials and Veggie Tales episodes. They suggested that we try to include such things in the language evaluation next week. They seem to be confirming my judgment that the neurologist didn't do enough or see enough to say that he's autistic. These people can't make a diagnosis, but they can understand why I've been questioning his diagnosis.

Once this language test is done, they're going to set up a time to discuss with all the evaluators what we want to do with him. They'll assign an occupational therapist and probably a psychologist to oversee his social and cognitive development and a speech therapist or other language specialist to oversee his language issues. They definitely won't be assigning a physical therapist, since he seems good on those issues. Once they've done all that, we can put him in a pre-school program where he'll be with other kids, doing activities with them, some of them kids with delays and some not, with no emphasis in the program on who has them and who doesn't. The specialists spend time with the kids assigned to them while they're doing their activities, sometimes pulling them aside when necessary for the particular skills they're working on but usually just working with them when they're playing.

I'd like to get a better social and cognitive evaluation than the woman who came here a couple weeks ago did, now that we know what sort of things will help get a better evaluation, but maybe just having someone working with him regularly will provide that. Those and the language issues were the ones I thought were most important, but it turns out the sensory ones may be fairly easy for him to learn, and that may lead to improvement in more areas than you might think. It certainly relates to his focusing on one thing for a long period of time, and that's related to social issues. I suspect it would also relate to language issues, since some of what we say to him when he's occupied by something else might not really be absorbed, which would affect the rate of his language development. It probably doesn't explain all the delays, but it may be the root cause of a lot of it, and they were saying that these issues are ones where occupational therapy can have a huge effect over time if they can stimulate those neurons to fill in and grow properly, connecting things more properly. The best way to do that is just to work with his senses. It actually releases hormones that help his brain develop better in those ways, so it would be giving him the proper brain nutrients and hormones except not artificially as with drugs.

I'm hoping that next week's language evaluation goes as well as this. Knowing what these people have said, we can probably figure out how more easily to direct that evaluation in ways that will get him to be more interactive, but I still don't know how well such an evaluation will capture what he's really capable of. The neurologist and psychologist vastly underestimated his cognitive, social, and language capabilities, and I'm hoping this person doesn't do the same thing by setting it up improperly so as to make it difficult to tell whether he's just not interested or truly unable at this point to do what they ask (or unable to understand what they asked).

6 Comments

There is a book, The Out of Sync Child which talks about Sensory Integration Dysfunction and offers additional information about how to tell if your child might be Hyposensitive, Hypersensitive, or have another related sensitivity issue.

My daughter, who has Down Syndrome, exhibits a number of characteristics of hyposensitivity. (She is now 5.) We have discovered that after lots of gross motor activity (swinging, rough-housing, etc.) her fine motor and oral motor skills noticably improved, but decayed the longer the time from the gross motor activity.

That would be an easy thing to check yourselves.

I am not an expert in these matters and do trust that you don't consider anything I have to say as any sort of diagnosis.

It's just that some of this sounds familiar and I thought I'd offer a tidbit which may help.

Allen, thanks for your input. It's nice to hear from other lay people who are in similar situations. It helps us wade through a lot of the techno-bable and figure out what might actually be helpful to us.

I am inspired by your strong advocacy for Ethan. My experience over the years with medical experts is mixed and nothing can replace your own diligent research. And when you find specialists who are not only intelligent, but also masters of their field, you will recognize this and much help can be gained. May God bless your journey in maximizing Ethan's potential, which, in the end is what all good parents do whether the situation is "special needs" or not. jenzy

My son was "diagnosed" with autism when he was 4 by the public school psychologist. This even though the psychiatrist we had been to said he did not have autism. In his reevaluation at age 8, they changed the lable to Asperger's. We went to another psychiatrist yesterday who was adamant that my son has no form of autism or Asperger's. So here we are 4 years after the initial diagnosis still not knowing exactly what's what with our kid. He's bright. Makes friends easily and loves being with people. He has a lot of odd behaviors and his speech is typical of Asperger's although he initiates conversations (non stop) and prefers being with people to being alone. We're at a loss. He's not typical, but he's far from being disabled in any way. Who knows? I think it is all a guessing game and the experts know no more than the rest of us.

Why can't it be that he's got some of the elements common to kids with Asperger's without having all of them? Why do we need a name for every set of issues? The issues are similar enough that resources for helping with Asperger's might be relevant, but even with people who are fully diagnosed there will be variations and different strengths and weaknesses. I see a diagnosis as a tool for getting help and something to ignore when it doesn't make a difference or only hurts.

I am in a similar situation with my middle son. When I questioned my sons status and education plan at the school the first time I was called and anti social redneck by the school psychologist, but I was right my sons is dyslexic just like his dad. Do your own research and try different things until you find what works for your child. And remember the squeaky wheel gets the grease so stay involved in your child�s education. Keep trying and looking for an answer. As a parent that is all you can do.

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