Nature News Special : The Autism Enigma

Here is a wonderful collection of cutting-edge articles on autism research.

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  1. I agree with the articles highlighting the lack of funding to isolate a gene or set of genes that could cause ASD. But, in some articles, they speak about “the spectrum” and how the diagnostic criteria needs to be expanded. While I am upset in the upcoming DSM-V that they are eliminating the sub-disorders within ASD, I do not agree that the criteria needs to be expanded. It’s expanded enough.

    Diagnostic criteria is insufficient in it’s description when attempting to diagnose children under three. Many behaviors described in ASD’s are consistent with the varying development of toddlers. The only “tell-tale” developmental gap, barring extreme developmental gaps, is a speech delay. Developmental delay alone is based on the “norm” of children in a certain age group.

    However, when a child has a speech delay, they are often though to have global delays that may or may not actually exist. The unfortunate truth is that many children with communication delays (both receptive and expressive), are unable to demonstrate their abilities accurately. Hence, they get slapped with an ASD diagnosis.

    This is the same phenomenon that existed in the 90’s and early 2000’s with the ADHD diagnosis. Where do we draw the line between quirky and overly active to disorder?

    • Great points! In my experience as a pediatrician, speech delay in the under-three crowd can be caused by a plethora of things. There is even a subset of extremely high functioning “normal” kids who “wait” to speak until they have almost an adult level of vocabulary and syntax and then wake up one day and say, “Mommy, may I please have oatmeal for breakfast today?” I’m not kidding, I’ve seen it. But they were slapped with an ASD diagnosis before that.

      The only really reliable cues to a true severe autism diagnosis that I have seen are 1) what I call a “starfish baby” whose limbs actually stiffen when held instead of cuddling up; and 2) avoidance of eye contact in a seeing child. These children require special EEG testing to make sure they are not blind. They will often follow objects, however. I’ve seen kids like this who will lie on their backs in their cribs watching their mobiles for hours and hours, but will not make any eye contact whatsoever.

      Your point about ADHD is also well taken. That’s where home visits are very instructive. Are the parents couch potatoes and they happen to have an athletic and bright kid who simply needs a lot of physical activity and/or intellectual stimulation?

      Then there’s the subset of “ADD” kids who are actually bipolar. In my practice I caught several of them. The tipoff is when these kids are treated with stimulants, they become weepy and depressed. You treat them with either an anticonvulsant or Lithium and they feel much better and function better at home and in school.

      It’s unfortunate that the art of medicine is really no longer taught. It’s distressing to see the decline in quality of the pool of physicians, as the generations of docs who knew and taught the art are retiring or, like myself, leaving for other reasons.

      • I’ve heard of “starfish baby”. Except, they called my brother “stick boy”. My brother has textbook autism and is moderately functioning. My son was not like that.

        My son is something different entirely, which I can’t put my finger on. I know he’s not a “normal” child. Maybe you could help me out with this.

        At the time of my son’s diagnosis, about six months ago, I believed it based on his behaviors. He has been through EI, and made incredible progress. But it wasn’t even. It was in fits and spurts. He’s always been like that. Two days before his third birthday, he started to have limited conversations. Before that, he had to be prompted to have a “conversation”. Three months before that, he started spontaneously speaking without having to be prompted at all for a word or set of words.

        His development is incredibly uneven. His expressive speech lags, but regardless of what the “experts” tell me, I know his receptive language has always been advanced. He knows things. He started self-feeding early and had regulated his daily schedule at any early age. His fine motor skill lagged for a little bit, but I think his hand preference is emerging as left or both. This is in an environment of right handed people. He’s been on target for gross motor.

        He has certain talents and aptitudes. T.D. can learn anything by song. He has a surprisingy good pitch for his age when he sings. His rhythm is impecable, as if he can feel the music. That doens’t surprise me because he comes from two artistically talented parents. His memory is incredible. And he’s completely obsessed with Spongebob.

        T.D. is stubborn, like his parents, and does everything on his own terms (like his father). You can ask him to do things, but you cannot command him to do them. But, he has already learned extremely advanced social skills like sharing, turn taking, and empathy. He has feeling words.

        What do you think? In your professional opinion? I’ve had several specialists in his EI program question the diagnosis.

        • I know you know that I can’t diagnose or treat people here in the blogosphere. In fact, I’ve taken myself out of pediatric practice because of my illness. Of course I can’t help thinking about medical stuff and having my own private thoughts about it, but my public practice has been shut down for ten years.

          The main thing is not so much pinning down a DSM diagnosis with kids. It’s paying proper attention to their needs. If you haven’t had him evaluated by a university based multidisciplinary clinic, do so. They look at things like spacial integration, balance and coordination, visual fields, audiology, all these sensory-motor factors that make such a huge difference in whether a kid feels like they’re really “here” or not. A kid with sensory-motor integration problems might have screaming fits just because they have sensations that don’t make any sense to them, and it freaks them out. Think of Temple Grandin’s “squeeze machine” (if you haven’t read “Thinking in Pictures,” you should). In my university’s program for autistic spectrum kids, they had a brilliant therapist who would catch a kid before he spun out of control and roll him up in a yoga mat type thing. The kid felt safe, enclosed, and his squeeze receptors got squeezed, and he calmed down. Now tell me why these kids don’t like to be hugged, but they love to be rolled up in a rug??? I can’t tell you how many hours I spent bear-hugging my son when he was very young while he raged, screamed, kicked, tried to bite, head-butted, and fought like the devil. When he calmed down I would carry him to his room and set him on his bed, telling him he could come out of his room when he felt human. Then he would tear apart his room, throwing every single thing on the floor. I had a blow-up clown that he could pummel, and he did. Then, after the storm had passed, it would get very quiet in his room. I’d hear the door open. “Mama? I’m human now. Can I come out?” And I’d go and help him put his room back together, and we’d go do something completely different like make lunch or go for a walk. This happened about three times a week. Now he’s a doctoral student in Medicinal Chemistry. You just have to hang in there with them and try to get them what they need, and never give up being their advocate. And love them. A lot.

      • Yes, I know. I was hoping that you’d have something to relate. I’m glad you did.

        He’s been evaluated by Children’s and I believe they are UPMC affiliated. T.D. has a 6th sense about people. He seems to know instantly if a person is a good or a bad person. Dr. W., the diagnosing doctor, is arrogant, abrasive, and generally intolerable when I’ve dealt with her one on one. T.D. was on his very worst behavior for the appointments. I guess she thought that was an everyday occurence.

        T.D. does not have screaming fits where I cannot identify the cause. He is emotional. When he is having a fit it is for these reasons: He didn’t get what he wanted. He is hungry or tired. Or he needs special attention that day, like extra playtime or extra hugs or cuddles. He does have tactile sensory needs, pressure needs, and oral stimulation needs. But he is not sensory avoidant at all.

        I love him a whole lot. My whole life revolves around his, at the moment. I don’t expect it to remain this way. He needs to get out and experience the world and make friends. I know he is capable of that. He is extremely friendly toward our adult friends and loves the company of other children. The only person he gives trouble are his immediate family. He is an angel for sitters and plays very well with other children. Amazingly well, LOL.

        I guess only time will tell in this case. But, I do plan on getting him into our local DART program and Wrap-Around servies to address his sensory and social needs.


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