In Part I of this thread, I described the X axis of a graph, on which I displayed the symptoms in the four areas impacted by ASD: Social, Language, Repetitive Behavior, and Sensorimotor. The child’s development in these four areas is off the track (“atypical”). Notice that there’s nothing on the X axis about IQ. That’s because atypicality is separate from IQ. Because IQ is independent of atypicality, we put IQ on its own axis:

Figure. IQ scale.

IQ tests are designed so that the average (“mean”) score = 100. The “spread” in scores above or below the mean is described in “standard deviations” (SD). On most IQ tests, 1 SD = 15 points. Intellectual Disability is defined in part by having an IQ score that is 2 or more SD below the mean (i.e., less than 70). This is roughly the same as the 2nd to 3rd percentile. At the other end of the scale, persons with IQ’s of 130 or higher are performing at or above 97th to 98th percentile, relative to the population as a whole. (Based on “Making Sense of Autistic Spectrum Disorders,” figure 5.2)

An individual can have any combination of intelligence and atypicality, just as someone can have any combination of height and weight. Another way to think about the relationship between IQ and atypicality is to imagine that you are waiting for a train: The train may be late, on time, or ahead of schedule; this corresponds to the overall rate of intellectual development (IQ). Additionally, the train may have one or more wheels off the track; this corresponds to atypicality. Each is important, but they are separate issues. In order to depict this relationship visually, we combine the X axis (atypicality) and the Y axis (IQ). Now we have an XY graph, on which we can map each child’s unique combination of atypicality and IQ.

Figure. XY graph, depicting the relationship between degree of atypicality on the X axis, and level of intelligence on the Y axis.

We have also displayed the regions that roughly correspond to the terms autism, PDD-NOS, and Asperger Syndrome. Persons with severe-moderate atypicality combined with an IQ of 70 or greater have what’s known colloquially as “high functioning” autism, while those with severe-moderate atypicality combined with IQ below 70 are said to have “low-functioning” autism. Persons with Asperger Syndrome are hyperverbal, while persons with autism and PDD-NOS are hypoverbal. The DSM-V will be eliminating all of these individual terms, making it all the more important to describe IQ as well as atypicality when characterizing an individual’s development.(Based on “Making Sense of Autistic Spectrum Disorders,” figure 5.4).

Long-term outcome is driven by the combined effect of degree of atypicality and IQ. In some cases, the person’s atypical features will fade to the point where he or she no longer meets criteria for a diagnosis of ASD. However, this does not mean that such individuals are “cured.”

More on these topics next time. If you want to “read ahead,” view this clip:

The entire webinar, “Autism Spectrum Disorder across the lifespan,” can be viewed here or on my home page.

This is a 3-dimensional graph, showing Degree of atypicality on the X axis, IQ on the Y axis, and Age on the Z axis. Over the next couple of posts, I will explain how I created this graph, and why it is important to you, whether you are the parent of a child with ASD, a therapist or educator working with children with ASD, a researcher interested in the epidemiology of ASD or the efficacy of various interventions for ASD, or if you are an individual with ASD yourself.

And if you are uncomfortable with graphs, don’t worry! I have a way to explain what we’re getting into, that won’t require you to use graphs.

Everything starts with this paper, written by Leo Kanner (a child psychiatrist) in 1943:

If you haven’t read this paper, you owe it to yourself to do so. Click here for a PDF of the paper. (Be patient: It’s a big file, and can take a minute to load, if you have a slow connection.) In this paper, Kanner describes 11 children (8 boys, 3 girls, ranging from 2 to 8 years of age), all of whom had what we would consider today to be classical autism: he described these children as “aloof, withdrawn,” with echolalia, repetitive behaviors, and sensory aversions and attractions –the very same features we use today, to diagnose ASD. In addition to being the first modern description of autism (there had been earlier reports in the 19th century), Kanner’s paper was also a five year longitudinal study of outcome. And what he described was a steady improvement, in the absence of treatment (in 1938 there was no such thing as ABA, VB, Special Instruction, Early Intervention, or any of the other therapies or services we take for granted today.) Here is what he wrote:

“Between the ages of 5 and 6 years, they gradually abandon echolalia and learn spontaneously to use personal pronouns… Language becomes more communicative, at first in the sense of a question-and-answer exercise, and then in the sense of greater spontaneity of sentence formation…. Food is accepted without difficulty. Noises and motions are tolerated more than previously. The panic tantrums subside. The repetitiousness assumes the form of obsessive preoccupations… Reading skill is acquired quickly, but the children read monotonously, and a story or a moving picture is experienced in unrelated portions rather than in its coherent totality. [We now refer to this as “central coherence”] … Between the ages of 6 and 8, the children begin to play in a group, still never with the other members of the group, but at least on the periphery alongside the group… People are included in the child’s world to the extent to which they satisfy his needs… All of this makes the family feel that, in spite of recognized ‘difference’ from other children, there is progress and improvement.”

So, from the very beginning, we have known that children with ASD change over time. Here is a table that summarizes different levels of impairment in persons with ASD. We can consider this table as a snapshot of different persons with ASD at the same moment in time, or we can regard it as a map that lays out the predictable changes that occur over time. Not every child starts at the far left, and not every child makes it all the way to the far right. There are even a lucky few who go all the way off the right-hand edge of the table, and “lose the diagnosis” (although this does not mean that they are “cured,” or that they are “all better now.” (This table is based on Table 1.2 in my book, Making Sense of Autistic Spectrum Disorders.)

Summarizing all of the items in the table above gives us a horizontal line, with Severe Atypicality on the left, and Mild Atypicality on the right, like this (redrawn from Figure 5.1 of Making Sense of Autistic Spectrum Disorders):

This will become the X axis on our 3D graph. More to come in the next post.

In 1886 the beloved American poet Emily Dickenson died of “Bright’s Disease”- the popular term in those days for kidney failure. No one dies of Bright’s Disease these days – Not because kidney failure has been eradicated, but because it has been broken down into dozens of specific disorders, each with its own cause and form of treatment, thereby relegating “Bright’s Disease” to the ranks of discarded medical diagnoses, along with ptomaine poisoning , consumption, and falling sickness.  Each of these obsolete diagnoses referred to a specific symptom or set of symptoms (edema, in the case of Bright’s Disease) that was considered the hallmark of the disorder. In each case, however, medical science eventually produced a deeper understanding of the problem: Often, it turned out that a specific biological factor could give rise to many different symptom patterns (or, no symptoms at all, in some individuals). Conversely, sometimes different biological factors produced identical symptoms. Therefore, even though two patients might have identical symptoms their treatments might vary, because of this difference in underlying cause (we don’t give antibiotics to treat viral pneumonia, for example). Eventually, the original, symptom-based diagnoses were discarded, in favor diagnostic formulations based not just on symptoms, but on mechanisms of biological causation.

We are at the same point today, trying to diagnose ASD on the basis of atypical behavior, as physicians were 150 years ago, trying to diagnose  pneumonia by the smell and color of the patient’s sputum.  And, like Bright’s Disease, “Autism” and “ASD” are nothing more than catchall terms that lump dozens of disparate disorders under one label based upon similarity of symptoms, without regard to the underlying biology.  Even if we were to achieve a consensus on the essential symptoms necessary to diagnose or rule out ASD, our logic would be circular, and circular logic proves nothing. Let me give you an example of what I’m talking about:  Most of the birds that congregate at the birdfeeder outside my window are brown. Adult male cardinals stand out from all the other birds, because of their bright red plumage.  What if I were to define “cardinals” based on the color pattern of adult males?  I could create a terrific diagnostic test based on that definition, that accurately detected 100% of adult male cardinals, with no false positives and no false negatives, but I would still miss half of all adult cardinals, and 100% of the chicks (since red plumage is not present in adult females, or chicks of either gender). This is the curse of a behavioral definition for ASD, rather than a definition rooted in biology.  We focus on the most obvious symptoms (the “red plumage” of ASD, if you will), but with no regard for the deeper connections between apparently disparate disorders: Why do some children with ASD manifest intense sniffing behavior? Why are some children hyperverbal, while the majority are hypoverbal? Why do some persons with ASD have co-existing Intellectual Disability, Anxiety Disorder, or Tics, and others not? And the over-arching question: Is the male to female ratio of ASD really 3 to 1? Or do females with the same underlying biology just look different from males, and therefore, like brown cardinals, get labeled something else?  And if so, is that a good thing or a bad thing?  And what does all this say about treatment?

Granted, we need to start somewhere. We cannot – as Humpty Dumpty once claimed – let words mean whatever we choose to let them mean. On the other hand, we need to guard against becoming too invested in this year’s behavioral definition of ASD – or next year’s (although funding for services usually hinges on “getting the diagnosis,” so behavioral criteria can have practical consequences). Rather, our goal should be to get at the underlying biology – at which point “autism” and “ASD” can join Bright’s Disease in the dustbin of medical history.

Each of us also has an obligation to try to leave the world a little better place than we found it. I write, as one way of trying to meet this obligation. Life is a continual struggle between the best and worst in human nature. I write as my way of engaging in that struggle – my way of fighting back against ignorance, superstition, and intolerance. So much for why I write. More importantly, why should you listen?

By upbringing, I am the sibling of a person with special needs: My kid sister has mental retardation. From the vantage point of elder brother, I have witnessed the impact of my sister’s disability on her own life, and on the lives of those around her. I have also witnessed the changes in society’s attitudes towards persons with special needs. I can talk the talk, and walk the walk, because I’ve been there.

By training, I am first and foremost a pediatrician. Pediatrics is dedicated to the care of the whole child, within the setting of his or her family or other caregivers. I have attended the births and deaths of many children; I have witnessed medical miracles, as well as death by cancer, child abuse, congenital anomalies, infectious disease, or medical misadventure. I do not have the power to convey these experiences to you in words. But my hope and belief is that I can pass on to you some of the wisdom I have gained through those experiences.

Within pediatrics, I have sub-specialty certification in two fields: Developmental-Behavioral Pediatrics (DBP), and Neurodevelopmental Disabilities (NDD). These are the two major pathways by which pediatricians can obtain expertise in child development. Certification in DBP is open only to pediatricians; certification NDD is open to pediatricians and Child Neurologists. I am one of a handful of physicians holding specialty certification from both boards. This dual training enables me to speak on topics ranging from normal child development to cerebral palsy; from the genetics of autism to family mental health.

You should also consider listening to me because of who and what I am not:

I am not the provider of any particular form of therapy. Sure, if you are the parent of a child on the autistic spectrum, I hope you will buy my book Making Sense of Autistic Spectrum Disorders, but that’s about it. I’m not selling nutritional supplements, hyperbaric “dives,” listening therapy, or any other product or intervention as a way of supporting myself. Nor, for that matter, am I the recipient of millions of dollars in royalties on vaccine patents. You may or may not agree with everything I have to say, but at least you can set aside any doubt that my opinions are driven by hope of financial gain. I’ll have more to say on this subject when I get to talking about how to recognized medical quackery (Rule #1: Follow the money).

So, if I’m not in it for the money, why am I doing this? Having a sister with a disability, plus professional training and 30 years’ of experience working with children with disabilities are useful attributes that hopefully will make me credible in your eyes. But these facts do not fully explain why I’m doing this. Many physicians come from homes in which parental approval was hard to come by. Growing up, intellectual achievement was one area in which I could earn praise from my father. At the same time, as the Gershwin lyric says, “They cant take that away from me.” In other words, what was between my ears was mine alone, and not subject to being taken away in punishment. So my intellect was both the source of approval from my dad, as well as my single biggest asset – something that no one could take away. I have carried those traits over to my adult life – making lemonade from the lemon of my unhappy childhood. It may not surprise you to learn that my father, too, was a crusader (and one of the first chapter presidents of what was then known as the Association for Retarded Children – now the ARC). So, I have wound up as a crusader of sorts myself – not too far from the parental tree. More than that, I can’t say.