Book: “Rethinking Autism: Variation and Complexity”

More and more researchers, autistics, parents, and professionals are questioning whether DSM categories, and Autism Spectrum Disorder in particular, hold up to scrutiny.

In Rethinking Autism: Variation and Complexity (2013), Lynn Waterhouse undertakes a comprehensive review of autism research to argue against autism as a single, unified disorder.

She argues that while we’ve had no success finding any single cause or unified understanding of autism, we do have plenty of data pointing us to an alternative research agenda focused on heterogeneity.

The book is an argument, not an opinion piece or political manifesto. It presents a pile of research findings, and makes a case for what they tell us.

Dr. Waterhouse goes beyond “the autisms” and argues that autism is not a disorder, or set of disorders. Rather, it’s a trait which may be produced by many different underlying conditions. Calling these conditions “autisms” would be like saying “flu is one of the fevers,” or referring to all fever-causing conditions as “the fevers.” In her words,

Given all the available evidence, however, the least speculative scientific position would not be the creation of autism subgroups or a creation of “the autisms.” The least-speculative and most phenomena-conserving position would be to view autism as two symptoms expressed in association with a wide range of genetic disorders, and a wide range of environmental causes.

She proposes that we diagnose symptoms, rather than a disorder:

The most simple and minimal solution would be to replace the DSM-5 diagnosis with an open set of symptoms that make no claims to be a disorder.

In this approach, we would diagnose “social impairment,” “intellectual disability,” “hyperactivity,” “repetitive behaviors,” “sensory processing difficulty,” and so forth separately. Some people would have both social impairment and repetitive behaviors (what’s now called autism), while others might have only one of the two. And many people might have other traits as well, which are not currently part of the autism criteria.

In fact, Dr. Waterhouse argues that most autistic people have some underlying condition which gives rise to both autistic traits and also other traits which are not part of the ASD criteria. These non-ASD traits are diverse; everything from ADHD to epilepsy to intellectual disability. (And some under-researched areas of strength.)

Why does it matter?

Because there is no unique unifying deficit, and because there is no evidence for causal specificity for autism, there is a clear detriment to maintaining the diagnostic category of autism spectrum disorder. The diagnosis misguides researchers, parents, professionals, and the public into the illusory belief that research will find a unifying deficit that would lead to a “cure” for the autism spectrum. Equally important, this illusion has driven the expenditure of an enormous amount of research effort in a continuing series of failed quests to unify autism.

Rethinking Autism will be too dense for many readers. Though Dr. Waterhouse makes an effort to define jargon (and overall writes clearly), there’s a lot of detail to wade through. The book also has an “academic book” price rather than a “popular book” price.

I don’t mean this as a criticism — we needed a thorough treatment of the topic — but I would love to see the same ideas in a more popularized format as well. For now, if you want a shorter version, you could read this blog post and hope I don’t mangle things too badly! I hope you will read the book yourself for the full argument and accompanying evidence.

This post

I’m sharing my notes after reading the book, starting with a summary of selected points, and continuing on to some of the personal reactions and ideas it left me with.

Indented quotations are from the book unless otherwise specified.

Three Arguments

Dr. Waterhouse summarizes her own book early on, so I’ll start with her summary of its three general arguments:

Argument 1, variation requires explanation:

… autism variation in etiology, brain deficits, behaviors, and life course is real and extensive and carries important information, therefore this variation should be explained rather than accepted, minimized, or ignored.

Argument 2, research must consider the full phenotype:

… diagnostic criteria for autism spectrum disorder have mistakenly excluded frequently-occurring symptoms of the autism phenotype as being outside the autism diagnosis. Intellectual disability, attention deficit/hyperactivity disorder symptoms, motor disorders, epilepsy, and, in DSM-5 developmental language disorder symptoms, have been excluded from the autism diagnostic phenotype. Excluding these symptoms from a diagnosis of autism has not helped us to understand the varied complex autism phenotypes, and has consequently hampered research discovery.

Argument 3, unified theories of autism are harmful:

… there are multiple causes for complex autism phenotypes, and understanding these causes will not be advanced by theories that propose a single unifying cause or feature for autism.

Does autism exist?

Of course the traits and people we currently classify as autistic are real. But perhaps there’s no out-there-in-the-world objective reason to draw a circle in the continuum of reality surrounding precisely those phenomena we currently call “autism.” Alternative circles may have more practical and explanatory power.

Dr. Waterhouse calls the cultural creation of autism reification; “the conversion of a theorized entity into something assumed and believed to be real.” We’ve moved from Kanner’s original 1943 theory of a unitary disorder, to a billion-dollar research agenda correlating stuff with the disorder, without stopping to prove the disorder exists.

In his foreword, Christopher Gillberg worries about misinterpretation of this argument, though he concurs with Dr. Waterhouse:

Having said this, I realize it may sound as though I do not “believe” in autism. To the contrary, I am acutely aware of the reality of autism; my endless flow of patients is convincing in itself. However, the fact is that we do not know what autism “is.” I have been in the field for forty years, and I can honestly say that I do not believe we are any closer now than twenty years ago to a real understanding of what it is about autism that makes experienced clinicians “certain” that it is autism regardless of whether operationalized criteria for the disorder are met or not.

Many routes to social impairment and RRBs

Dr. Waterhouse writes:

The first diagnostic symptom of autism, social interaction impairment, is likely to occur when any of the many brain systems that govern human social behavior are disrupted. These systems include the detection of biological motion, face recognition, emotion recognition, emotion experience and expression, a drive to bond with others, pleasure in human physical contact, ability to communicate, and other component social skills. …

The second autism symptom of restricted and repetitive behaviors and/or sensory abnormalities is likely to result from disruption of a variety of brain systems regulating motor planning, motor symptoms, sensory systems, executive functions, reward circuits, motor repetition, motor inhibition, and other symptom-component skills.

Social interaction involves virtually the entire brain, working in coordinated fashion. Therefore, many specific brain differences, and most general brain differences, could result in social interaction differences. There need not be anything in common amongst those differences — other than “they all affect social interaction.”

Many outcomes from single genetic risk factors

Eliding the book’s lengthy review of genetic risk factors into one conclusion:

Nearly all gene variants and chromosome duplications and deletions found for autism carry risk for other psychiatric and neurological disorders.

This is evidence that the currently-identified disorders do not draw lines in the proper places. We often say that someone has “comorbidities” with autism (such as ADHD or intellectual disability), when (often) it may be more accurate to say that they have a single condition with many effects.

Broad autism phenotype

Dr. Waterhouse reviews the research on “broad autism phenotype,” and concludes that it is as heterogeneous as autism itself:

What is clear from these findings is that researchers have not discovered any consistent pattern of traits for the broader autism phenotype, and that the great heterogeneity found for autism symptoms is true for symptoms of the broader autism phenotype.

Implications for genetic counseling

Many may have read that a family with one autistic child has a 10%-ish (depending on the study) chance of autism in a second child. However, Dr. Waterhouse points out,

All infant sibling studies exploring how likely a family is to have a second child with autism generate a single risk rate. However, that single rate is really the average of many different individual family risk rates.

To think about genetic risk clearly, researchers and prospective parents once again need to dive into heterogeneous detail.

For example, in a family like mine, where three generations (that I know of) all have similar traits, the simplest explanation for autism is that it’s inherited. But plenty of autism in other families appears to be related to prematurity, epilepsy, de novo mutation, and so on. Simple conclusion: in our family, the chance of autism in a second child will be well above average. But another possible conclusion: not all autism is the same, and in our family it has never been accompanied by intellectual disability or epilepsy. So those accompanying traits may be unlikely (or if they appear, they might be from a distinct cause, which could interact with inherited social impairment to create a more complex phenotype).

By understanding autism’s heterogeneity, genetic counselors might give better advice about autism inheritance in a particular family. Giving families the average chance of autism for a second child is misleading.

A research agenda around heterogeneity

Dr. Waterhouse writes:

Abandoning the diagnosis of autism as a disorder would free researchers to recognize and study the complete phenotype of children expressing neurodevelopmental social impairment.

Recognizing that many conditions cause autism, that most risk factors for autism also cause differences other than autism, and that individuals may have multiple conditions, might make research far more complicated than “correlate xyz with autism.” But it might also make research more meaningful and realistic.

Dr. Waterhouse argues that continued research around unifying features of autism requires progress on synthesis, but that “the hundreds of theories proposing a unifying feature for autism would not require synthesis if autism were no longer viewed as a single disorder.” She cites P.E. Meehl’s theory of “ad hockery” and argues that researchers have been inventing and rejecting a series of weakly-supported theories, rather than reconceptualizing the big picture.

Autism and gender

Rethinking Autism devotes some space to autism’s greater prevalence among males.

In the book’s argument, the male/female ratio will be a composite: an average made up of many “distinct male to female ratios each of which is determined by a specific causal risk etiology and consequent mediation of brain development.”

An interesting point, which I was not aware of, is that neurodevelopmental disorders in general are more common in boys. When born preterm, for example, boys are more likely to die, suffer complications, or have long-term disabilities.

Since infant boys appear to be more fragile than infant girls, explaining this general difference may go a long way toward explaining the difference in autism diagnosis.

(Side note from me: underdiagnosis in women due to gender bias may be reduced if we can replace “know it when I see it” diagnosis with better scientific understanding.)

Some personal reactions

I’ll switch here from summarizing the book to some of the thoughts I had after reading it. I don’t claim to be an autism expert. I’m just some guy trying to figure out what all this autism noise means to me and my family. Caveat emptor.

Many of my notes are speculative or would require a whole new book to discuss, so I don’t mean to criticize Dr. Waterhouse for leaving stuff out.

I also don’t want to imply that Dr. Waterhouse does (or does not) agree with any of my political or social opinions — I have no idea. Her book tends to stick to factual matters.

Enough defensive disclaimers… you get it.

The practical impact of autism’s reification

For the most part, Rethinking Autism argues against a unitary disorder on scientific grounds (that is, it’s slowing scientific progress).

Much more could be said about the effects of the “autism” concept on our day-to-day habits of thought, and this is why I hope to see Dr. Waterhouse’s argument reach a wider audience.

Often, people have a straightforward idea about autism: they think of it as a single disease, analogous to the flu, which “breaks” the brain. This leads us astray in so many ways. Spend some time reading autism blogs, comments, or a site such as MyAutismTeam, and you’ll find all sorts of faulty reasoning.

Just some of the mistakes people make (in my opinion; Rethinking Autism doesn’t tackle all of them):

  • that it’s a single condition rather than a trait or symptom (with many causes)
  • that there’s a radical break or categorical difference between “normal” (neurotypical) and “other” (autistic) (reality: some underlying conditions might be normally distributed, while others might be bimodal?)
  • that the condition resulting in autistic traits is unequivocally “bad” rather than a tradeoff or mixed blessing
  • that a treatment could be found which would apply to all people with autistic traits
  • that the cure is “medical” in nature (drugs, diet, etc.), rather than educational in nature (perhaps this varies across underlying conditions too?)
  • that whatever condition an autistic person has results in exactly the two traits mentioned in the autism criteria (social impairment, restricted/repetitive behavior) and no others
  • that each paper or presentation or book about autism applies to all people with autism
  • that their loved one will be miserable (because autism sounds so scary) or a genius (because hey, Bill Gates and Mozart have autism too)
  • that autism can be separated from a person
  • that some of a person’s behaviors are “because of autism,” while others are not, and this should affect our response to those behaviors

Rethinking Autism doesn’t address all of these directly, but its discussion of the “unitary disorder” problem does challenge our assumptions in a helpful way.

Bad analogies lead to bad conclusions, with very real practical consequences.

I’m aware that people will be wrong on the Internet no matter what. But perhaps we’re presenting “autism” in a way that starts even thoughtful people off on the wrong foot. What if we understood autism a bit more like dyslexia or introversion, and a bit less like the flu?

Dr. Waterhouse’s catalog of evidence against the “unitary disorder” model does us all an enormous service by sending us down a path that might get closer to the truth.

Advocacy benefits of a unitary autism

“Autism” as a concept has been politically and socially successful.

Grouping many neurodevelopmental differences together makes them into a big deal, rather than a collection of isolated cases.

We have an emerging Autistic identity made up of people diagnosed with autism.

We’ve been successful in raising funds for autism research. Imagine lobbying and advocacy in the name of “a wide variety of neurodevelopmental differences which create social challenges” — not the easiest marketing task. “Autism” is much catchier.

Very real material benefits are tied to the autism label. Insurance companies in many states are now required to cover autism, but they may not be required to cover developmental delays or differences which are not labeled autism. Similarly, school district services or other government services may be tied to autism diagnosis. Anti-discrimination and accommodation rights kick in with a diagnosed “disability,” which may be unavailable to those whose disability hasn’t been reified.

It will be a long, hard road to change the way we talk about autism (and neurological difference in general) without giving up needed services and accommodations.

One positive outcome, however, could be to expand services and accommodations to those who need them but who don’t quite fit the current idea of “autism.”

It may be a hard road to help every person on a “needs help” basis rather than a “has a disorder” basis. But it could be worth it if we make it to the end.

What should professionals tell those in their care?

Current science appears to be out of sync with current professional practice. The nature of diagnosis may inflict unnecessary stress on autistics and loved ones — diagnosis is an elaborate process ending in a dramatic (and often traumatic) revelation about Autism or Not Autism.

In a cold scientific sense, “your child would benefit from social skills tutoring,” and “your child has autism” can mean about the same thing for many children. But these framings certainly do not have the same impact on parents. A traits-based approach could be much less frightening than a disorder-based one.

With “autism” written into laws, insurance paperwork, school rules, nonprofit charters, books, and every other institutional resource, how can anyone involved with autism be honest about what we know? A diagnosing clinician can’t set aside two hours to tell flustered parents, “look, here’s the complicated truth on the one hand, and here’s the charade (involving an imaginary disorder) you’ll have to participate in on the other hand.”

But misinformation has consequences, as any cursory participation in a support group or online autism forum will reveal.

In my experience, professionals avoid “autism politics” like the plague (understandably); but this leaves their patients unguided and vulnerable to quackery.

People assume that because autism shows up as a diagnostic code in the same spot a doctor would write “flu,” it must be the same category of thing as “flu,” then they reason by analogy. Clinicians might ideally find a way to say “this is a diagnosis but not that kind of diagnosis.”

Stigma, overreaction, quack treatments, and so on are among the downsides of autism diagnosis. If these problems could be solved, there may well be even more kids who would benefit from some social skills tutoring or behavior analysis, beyond those who meet the autism threshold today. It should not have to be a big deal to get appropriate, individualized education.

Defining social impairment, RRBs, SPD

Dr. Waterhouse questions the unitary nature of autism and suggests breaking apart social impairment and RRBs as distinct traits. While this would be progress, I suspect there’s another possible book exploring the traits themselves. For example:

  • What are the best ways to measure these traits? Can we do so dimensionally rather than categorically? Can we measure them across the population and not only in the “disordered” population?
  • How can the traits of social impairment, RRBs, and atypical sensory processing be further decomposed into more specific traits? All of them are quite broad in themselves, and may have the same reification problem that autism has.
  • Many of the conditions which generate social impairment or RRBs may be normally rather than bimodally distributed; when is this is the case? When it is, how do we validate the line drawn between diagnosis and “normality”?
  • When we measure these traits are we trying to measure “functional impact” (effect on quality of life) or are we trying to measure an innate, lifelong feature?

I find that this last point, in particular, creates muddled thinking in the real world across stakeholders and contexts.

Are autistic traits contextual functional difficulties or lifelong differences?

Say you are creating a measure of autism (or its component traits) — a checklist or questionnaire of some kind. Some questions would tend to be relatively stable (less likely to change across multiple administrations to the same individual, even as the individual’s skills improve). Some other questions would tend to be relatively correlated with measures of quality of life or independent living and would improve in response to education and practice. These may not be the same questions. Which ones do you keep? Which are the ideal measures of social impairment or RRBs?

Put another way, if an autistic person, through hard work, learns adequate social skills, are we going to say:

  • they are still an autistic person but one who has compensated for social weaknesses through time and hard work;
  • they were misdiagnosed and never had autism, because autism means that they can’t ever learn social skills; or
  • they had autism but through hard work have now been cured?

In current usage, the word “autism” means “fixed trait” sometimes and “current functional impairment” other times, which creates confusion.

When autism diagnosis operates as a medical/educational “certificate of need for services,” it should reflect degree of practical impairment. But scientifically, we might want to understand autistic traits through factor analysis. That means controlling for other factors such as personality and intelligence and education. The “same amount” of autism, in some theoretical sense, would be more impairing given fewer other compensating strengths.

At one point Dr. Waterhouse quotes P. Szatmari on this point:

social communication and repetitive behaviors may not be the most useful for categorizing children with autistic spectrum disorder … because variation in these dimensions seems to be only weakly associated with variation in outcome and response to treatment, which are more closely related to cognitive and language abilities.

Inserting my own editorial here, I think this points to a need to separate the “medical/educational certificate of need” for someone with autistic traits, from the scientific measurement of said traits in isolation. Not that this would be easy in practice.

Dr. Waterhouse talks about this somewhat by identifying “stakeholder conflict over the control of diagnostic criteria” as one of three “pressing problems for the diagnosis of autism.” One solution to this stakeholder conflict might be to invent different systems of classification for different purposes.

I believe it’s already true in the United States that schools and social security make their own determinations, which aren’t necessarily the same as the medical diagnosis.

Will we find evidence for “not like my child”?

Internet autism fights include the well-known “not like my child” trope, in which parents assert a bright line in the autism spectrum between noncommunicative autistics and autistics able to participate in Internet flamewars.

If we break apart autism spectrum disorder, it is possible that some underlying conditions are general brain disruptions which are always and absolutely disabling; while other underlying conditions are closer to a mixed blessing with strengths and weaknesses. There may also be conditions which are ambiguous, with their value in the eye of the beholder, or with a variable outcome. And of course there will be people with multiple conditions.

This adds complexity to the “not like my child” debate: it means that there may someday be many scientifically-validated lines between the conditions we now label “autism.” Such lines could be used for good or for evil.

Conditions deemed “severe” could see renewed stigma and dehumanization. Conditions deemed less severe could see loss of services and loss of legal protections.

On the positive side, more realistic understanding could lead to more appropriate services and treatments.

As we learn more, the cultural positioning of the facts will have a lot to do with their practical effects.

Savant and special skills, and autistic strengths

To date, attention to autistic strengths has often focused on savantism and “splinter skills.” Dr. Waterhouse devotes a chapter to this topic, with the conclusion that research to date has been inadequate:

In fact, measured intelligence varies widely in autism, and the possible casual web of associations between intelligence, savant skills, superior perceptual recognition and discrimination, and sensory abnormalities has not been determined.

Dr. Waterhouse describes the autistic savant as an “unhelpful stereotype,” and it’s hard to disagree. The terms “splinter” and “savant” seem very problematic to me.

However, I believe there are many better research directions related to strengths.

How do variations in personality and intelligence relate to social impairment? Are there tradeoffs or “tunable factors” in the structure and function of the brain, where evolution and development may optimize it for some tasks at the expense of others? Are there context-dependent traits which are strengths in one context and weaknesses in another? How could schools, in particular, be more or less friendly to particular traits, and can we better adapt them to diverse students?

An occasional paper has interesting leads relating to strengths, for example in “Children with autism do not overimitate” autistic kids copied adult actions in a more cognitively-demanding way than typical kids. Autistics determined the purpose of the task and filtered out useless steps, rather than copying everything without question.

Anecdotal strengths of autistics include hard-to-quantify personality traits such as honesty, straightforwardness, independent thinking, and persistence. I believe there would be value in somehow quantifying or characterizing these stereotypes. Do autism interventions affect these qualities?

Finding ways to talk about autistics (and diversity in general) in a positive way may be one of the more powerful “treatments” we could discover.

As a 2-year-old reader myself, and dad to another 2-year-old reader, I can relate firsthand to hyperlexia, one of the skills Dr. Waterhouse mentions. Darold Treffert’s “Hyperlexia III” paper helpfully explores the heterogeneity of hyperlexia through case study impressions (though Dr. Treffert’s paper is more confident about the meaning of “autism” than I’m comfortable with).

To me it’s a mistake to start from the view that hyperlexia is a “splinter” skill, because it may instead be a manifestation of a more general interest, preference, or ability. One professional has used the term “splinter skill” talking about my son’s reading; I felt this was inappropriate and unhelpful.

Autistic strengths deserve exploration, as do strengths in the general population. How can we understand variations in intelligence or social skills in autistics, without understanding these variations for everyone? Better understanding of intelligence in general means better understanding of how low or high intelligence might interact with autistic traits.

Strengths are a key part of anyone’s phenotype and are part of the data a better theory of autistic traits will have to explain. The full scientific picture must include harmless and beneficial “symptoms” too, not only troublesome ones.

Skills are also an important element of each individual person’s human experience. Even severely-disabled persons have skills. No one can be adequately described using only the language of disorder.

To help an autistic person we need to know what strengths they might build upon to become their best selves. Responsiveness to various interventions, for example, might hinge more upon which strengths are present, than upon which weaknesses are present.

Autism may or may not be shown to include skills, focuses, or ways of thinking which other kinds of minds emphasize less. But whether or not autism involves “special” skills, strengths will vary across autistics, just as they do across non-autistics.

If current research has been limited to “savant” and “splinter” skills then we must get past that research and do better. If there is better research already, I wish it had been included in Rethinking Autism.

Language neutrality

While it’s reflective of the research she’s reviewing, and a medical perspective, I believe Dr. Waterhouse’s book could be improved by more neutral language.

As I argued in a previous post, the value-laden language of disease puts us in a less-than-objective frame of mind. We should all make an effort to use neutral language (“traits” not “symptoms”, “differences” not “abnormalities”), and to mention strengths when applicable.

Four small concrete changes which could add balance to the book:

  • use of more neutral terms where appropriate
  • when enumerating potential components of autistic phenotypes, be careful to include traits which are not currently in the DSM, including positive traits
  • when discussing research toward a cure, also discuss research toward accommodation
  • more exploration of possible heterogeneity-aware research agendas around strengths and skills

I do not mean that autistic traits should be whitewashed or made to sound all roses and lollipops, only that strengths and skills (and variation in those) are part of the complete picture.

For now, we often (usually?) can’t prove whether a given autism-correlated brain difference is even related to practical impairments, let alone how it’s related. Think about someone with bulked-up arms because they use a wheelchair; autism research often does the equivalent of assuming that the large arms keep this person from walking. An autism researcher might identify “excess arm muscle” as an “abnormality.” While perhaps true in some literal sense, in practice we use the word “abnormal” to mean “thing which needs fixing,” so this usage is incorrect. Morton Ann Gernsbacher has a great list of examples in real papers.

Our language habits should reflect our ignorance, to help keep our thinking on the right track.

Research starting from case studies

It may be valuable to mine anecdotal experiences of autism for clues leading to quantitative research ideas. There are many different introspective accounts:

  • Temple Grandin’s “thinking in pictures”
  • The “motor apraxia” or “locked in” description given by many nonverbal autistics, such as the boy in “The Reason I Jump”
  • The “overly intellectual” experience as first suggested by Hans Asperger
  • The “sensory overload” experience described by many
  • The commonalities in accounts of hyperlexia

The challenge is to map these experiences to measurable and thus researchable phenomena.

Developmental perspective, feedback loops, and neuroplasticity

Following the studies she relies upon, Dr. Waterhouse argues against autism as a unitary phenomenon using primarily snapshot-in-time data. But there’s also evidence of heterogeneity from a developmental perspective, that is, single individuals with changing traits, skills, and neurology over time. Future research could expand on this.

She does say that:

Advances in the understanding of causes for complex autism phenotypes will also depend on the increased knowledge of environmental impacts on brain development, and increased knowledge of the mechanisms of the dynamic processes involved in brain development.

Dr. Waterhouse found a few studies in this area, such as C. Fountain et al on “Six developmental trajectories characterize children with autism.”

I am hungry for more research here.

The unitary account of autism fails to explain optimal outcome, for example. In case studies of so-called Einstein syndrome or hyperlexia III, autistic traits in early childhood do not result in serious lifelong impairment (though the jury is out on whether they result in lifelong difference).

In studies of interventions such as ABA, there have been “responders” and “non-responders”; how did these individuals differ? There’s again some research, but not enough to reliably predict in advance who will respond.

Effective education for autistics tends to be intensive (20+ hours per week) and consist of repeated practice in areas of weakness. We know that this practice gets results. How does this affect what shows up on a brain scan?

When research correlates brain activation or other physical neurological features with autism, there’s rarely an attempt to look at how those features change over time, and how they might relate to practicing skills. Feedback loops may amplify some small feature present at birth into a much more significant difference.

An understanding of autism heterogeneity must include an understanding of change over time.

We would do well to remember that, as Gabrielle Giffords illustrates, the human brain has an amazing ability to adapt and change. Even a bullet in the head may not be as permanently impairing as we intuitively expect. The intensive therapy for Representative Giffords was about the same as that for someone with inborn brain differences: speech, physical, and occupational therapy. Education and practice, in other words.

The brain exists to learn; learning means physical, neurological change. Change could well be viewed as the purpose of the brain. One consequence of autism’s reification may be an underemphasis on change.

On education

At one point Dr. Waterhouse laments that

In fact, the only treatment for autism at present is intense and focused education programs.

She expresses hope for the development of drug therapies, once the conditions underlying autistic traits are unpacked.

Education is inadequate for many autistics, but eliminates the downsides of autistic traits entirely for others.

We might have to be cautious about locating dysfunction in individual children, in those cases where it should be located in educational bureaucracies. The literature of homeschooling and alternative schooling describes at length the ways in which typical schools do not have to be the way they are. Some milder manifestations of autism, ADHD, anxiety, and other traits appear to amount to “school disorder,” reflecting many schools’ inability to provide appropriate education to atypical children.

ADHD does have medication options, which appear to have gone a little bit off the rails.

I’m not categorically against medication, but ADHD may be a cautionary tale where it’s been overused for the convenience of adults.

We should also keep in mind that intensive education remains underused as an autism intervention. Many autistics do not have access. In our area, there are countless kids who need not have a significant long-term disability, but who nonetheless will struggle mightily because their “treatment” consists of an hour per week of sensory gym or social stories. We continue to lie to parents (if only by omission) and leave them with the impression that an hour or two per week of social enrichment may be sufficient.

While researching medication, we could also be saying more loudly that we do already know ways to help, we just don’t always care to pay for them.

Education is less stigmatizing and not inherently medicalized. It sends a message of help (teaching skills) rather than a message of change (removing traits).

Subjectively, my wife and I think of our son’s autism as analogous to dyslexia; he thinks in a certain way that’s friendly to some skills and unfriendly to others. As with dyslexia, education feels like a proper response.

Of course one takeaway from Rethinking Autism could be that not all conditions lumped into “autism” today should be thought of in the same way. We know that some people diagnosed with autism are not responsive to education, or at least not responsive to the kind of education offered.

I don’t expect Dr. Waterhouse would disagree about the value of appropriate education, and it would be great to have medication available as an option. I just worry about its misuse. I don’t know the answer.

Reification of conditions besides autism

A similar “reification” critique likely applies to other DSM disorders, as Dr. Waterhouse occasionally hints. A similar book could potentially be written about ADHD, for example.

While I haven’t read much academic research about giftedness, many parents and popularizers claim that giftedness isn’t just higher IQ, but a categorical difference. In fact, they’ll often describe qualitative differences which overlap autism: social distance from peers, intense focus, and sensory issues.

More than one parent (that I’ve seen) has turned up in an Internet forum rejecting an autism diagnosis on the grounds that “really” their child is gifted, as if autism and giftedness were known to be mutually exclusive. These parents implicitly believe that there are two unitary phenomena “autism” and “giftedness,” each of which produce similar observable traits, but which are distinguished by some as-yet-unknown underlying “what’s really going on.” Professionals do this too; see “That’s not autism, it’s simply a brainy, introverted boy”, for example (my previous criticism of that article).

Perhaps there’s research supporting criteria other than “I know it when I see it” for this distinction? Who knows.

Conclusion

I’m grateful for Lynn Waterhouse’s book and fervently hope it will help knock autism research out of a rut (not to mention help improve everyday thinking about autism).

My “crash course in autism” as a new parent included a research review textbook, Autism Spectrum Disorders (edited by David Amaral). I was struck by how little scientists know. And I was struck by how impractical the research was; reading through it, I felt that:

  • only some fraction of the knowledge applied to my son
  • the researchers mostly hadn’t figured out who their findings applied to

As currently used, the word “autism” has very little to say about any particular autistic person — and as a result, neither does the research. This is a disservice to everyone with neurodevelopmental differences, and their loved ones.

Rethinking Autism moves the conversation forward and I hope it will change our thinking for the better.

Unscientific words in scientific papers

It’s common for researchers to compare an “autism group” with a “control group,” on some dimension. Perhaps some part of the brain differs in size or in activation, or the neural network graph has a different shape, or kids with autism have more allergies, or they are less prone to certain cognitive biases, or whatever, the list is a mile long. Then we get a “such-and-such correlates with autism” discovery.

In writing up their research, scientists get out their mental thesaurus and try to avoid saying “more-connected neural network” and “less-connected neural network” over and over. They might start to say things like “connectivity deficit” or “excess connectivity” or “abnormal neural network” or “pathological neural network” or “defective gene.” If the autism group has more then it’s “excess” and if it has less it’s “deficit.”

This is bad science.

Think about what you’d have to prove to justify the words “excess” and “deficiency.” You would need to determine the “best” genotype or phenotype. Then you would need to know thresholds (how far someone can be from “best” before it’s a practical problem). When was the last time an autism study showed either of these?

Just because we demonstrate that something is correlated with autism, we haven’t demonstrated that it is “bad.” We haven’t shown that it results in the negative aspects of autism. We haven’t demonstrated that it’s unequivocally bad; perhaps it’s a mixed blessing. Or perhaps it’s something innocuous and irrelevant (it could share a cause with some forms of autism, but have no functional effect). Or perhaps it’s an effect of autism, rather than a cause.

In most correlation studies, there’s no evidence whatsoever about how or why the thing in question relates to autism, there’s just an unexplained correlation.

Many biology textbooks discuss sickle-cell disease, a genetic trait which can be an advantage: in heterozygous form, it confers resistance to malaria. In tropical regions, evolution tends to select for this gene, even though it has major downsides.

The various conditions which involve autistic traits are undoubtedly more genetically complex. If we are humble and scientific, we might assume that many traits which correlate with autism exist in our genetic heritage for a reason. Since we don’t know what the conditions are, what the endophenotypes are, or how it all relates to observed autistic traits, we need to reserve judgment on whether anything we observe constitutes a “deficit” or “excess.” Stick to saying it’s a difference.

Even when a trait is plainly a deficit in one context, it may be a strength in another. Is sickle-cell disease a net negative? — well, do you live in a malaria-infested region or not?

In my speculative theory about how autism works in our family, it’s easy to see how causes which contribute to “intellect” and causes which contribute to “instinct” would need to be in balance. A person too lopsided in either direction will have trouble. None of the genes or other causes which push the balance one way or the other would be “abnormal” or “deficits” in themselves; only an imbalance or preponderance — potentially in either direction — would cause a problem.

I’m not saying this is how our particular autism condition works, or how any condition works. It’s pure speculation. But the point isn’t that I’m right about this, it’s simply that in many possible scenarios, we don’t know whether the phenomena we’re observing are net positive, net negative, context-dependent, irrelevant, or what.

Outside of autism, think about intelligence. Why are human IQs distributed as they are? Well, some people say that IQ at the very upper limits of the distribution can be a liability. Anecdotally, people with IQs of 150 or 160 may be barely functional. So perhaps intelligence, also, requires a balance. Perhaps we need some genes to make us smart enough, and some other genes that keep us from being too smart. In this balance, there may be many genes which are neither categorically “good” nor categorically “bad.”

Scientific papers should strive to use neutral language, reserving judgment on the merits of the observed phenomena, unless there’s actual evidence about those merits. This goes double for poorly-understood genetic and neurological features.

No “deficits” and “abnormalities” and “dysfunctions,” just the facts.

This should be done to promote sharper, clearer, more precise, more accurate research.

There are ethical implications as well (we should be concerned about stigma and eugenics). But even if one doesn’t care about ethical considerations, factual considerations ought to rule out language based on unproven assumptions about the “best” genotype or phenotype.

(To be clear, I’m not talking about an observable problem described as such; “difficulty conducting a conversation” can be described as a “pragmatic deficit” and that’s fine. The problem comes when we have some proposed underlying genetic or neurological feature, but no proof of that feature’s specific effect on observable behaviors or quality of life.)

What are “intellect” and “instinct”?

I named this blog based on a Hans Asperger quote:

Normal children acquire the necessary social habits without being consciously aware of them, they learn instinctively. It is these instinctive relations that are disturbed in autistic children. Social adaptation has to proceed via the intellect.

Other than the loaded language, this “sounds right” to me for my family’s particular experience of autism. But I’m not sure how to translate it into a precise, testable idea.

Countless different intuitions, scientific terms, and research results may relate. Here are some of the words I’ve discovered so far:

  • Intellect vs. instinct
  • “Book smarts” vs. “social/street smarts”
  • Conscious vs. unconscious
  • Explicit vs. implicit
  • By teaching vs. by osmosis
  • Systemizing vs. not-systemizing
  • Autism vs. schizotypy
  • Executive attention vs. default network
  • Denotation vs. connotation
  • Symbolic vs. indexical
  • Nonsocial vs. social
  • Left brain vs. right brain
  • Analytical vs. intuitive
  • Head vs. heart
  • Mind vs. body
  • Critical vs. generative thinking
  • Know-what vs. know-how
  • Thinking vs. doing
  • Explaining vs. practicing
  • Slow/system-2 vs. fast/system-1 thinking
  • Conscious choices vs. habit
  • Formal vs. tacit knowledge
  • Declarative vs. procedural memory

It’s striking how many scientists, artists, and philosophers mention this dimension (or these dimensions) of human variation. And it’s striking how many different words there are in the list — which of them are the “right” words? How many would we need in a complete, but parsimonious, theory? Surely not all of them?

Some questions I can’t answer:

  • How can we describe this in a way that’s measurable, valid, and corresponds to physical (neurological) phenomena? What is this trait, or what are these multiple traits — if anything at all? Perhaps we’re looking at an appealing “folk” theory with no empirical substance?
  • Does this trait have anything to do with autism? How about to some of the autisms?

If you have good pointers on where to dig deeper, I would love to hear from you.

Many of the terms in my list above come from a particular intellectual source or tradition (though I mixed in some everyday words with the technical words).

I’d like to go through and give background on some of these, but it’s too much for one blog post, so I’ll save it.

Typically, books and papers referring to one of the terms in the list above do not mention the others. Often I think researchers are unaware of other potentially-relevant research.

Where am I coming from?

Long ago somewhere I can’t remember, I read a discussion of knowing what vs. knowing how. The author’s thought experiment was about walking. Imagine walking with conscious planning, thinking consciously about each muscle and movement involved. Attempting to do this makes us terrible at walking.

When I find myself struggling with social or motor skills, this is the feeling. My impression of my son is the same. Rather than trying something, playing, experimenting he wants the system first. First organize and analyze it, then carefully and cautiously we might try it.

A simple example. There’s a curriculum for writing called Handwriting Without Tears. Despite teaching himself to read when barely 2, my son refused to even try to write. Then someone showed him this curriculum in which letters are broken down into three named categories according to how you write them; and then each letter has numbered strokes to be done in sequence. Suddenly my son was interested in writing. He approached it by first memorizing the whole Handwriting Without Tears system, and only then was he willing to try to write. I believe this is not how most 3-year-olds work, but this is how he works.

It was very clear at age 2 that my son found memorizing organized information (and reviewing the memorized info) highly pleasurable. It’s his fun. And the same trait is evident in me and my father. Together with that, we seem to be indifferent to “play” in the usual sense. Before becoming a parent, I had no idea that these preferences appeared so early in life.

Research tells us that practice makes perfect, and that it’s useless or even harmful to be able to explain an action, vs. simply doing it. Moreover it’s exhausting. Conscious decision-making uses up resources in ways that autopilot actions do not. When introverts say social interaction “drains their energy,” could it have to do with a higher degree of conscious work?

But it’s not always a weakness. Imagine trying to program a computer to walk, or imagine a research scientist studying muscles. The same “overthinking” that makes one terrible at walking might make one pretty good at those tasks.

In everyday contexts “intellect” may be crippling pedantry, bogged down in irrelevant detail. In other contexts, an immersion in detail, combined with explicit reasoning from first principles, may be vital to understanding reality. Received wisdom, groupthink, and intuitive judgments often turn out to be flawed. Somebody has to go back and “think slowly” and figure it out.

One simple study (“Children with autism do not overimitate”) had to do with children copying “unnecessary” or “silly” actions. Given a demonstration by an adult, autistic kids would edit out pointless steps in the demonstrated procedure. Think about what’s required to do this: the procedure has to be reconstructed from first principles to edit the silly out. The autistic kids didn’t take someone’s word for it, they wanted to start over. (This study would be so much better if it went beyond “correlation with autism”.)

Even if we found that autism correlated with some measure of “intellect vs. instinct,” we wouldn’t know that this difference “was” autism; it could be a secondary effect. For example, humans seem to have an innate “reward system” encouraging them to practice through play (creating instinctive knowledge). A difference in relative reward from intellectual vs. instinctive activity could start a feedback loop leading to different levels of skill. Differences in relative reward could in turn have many causes… decreased enjoyment of play, increased enjoyment of intellectual systems, sensory aversives, who knows.

Some autistics describe experiences that seem similar to mine, for example I identified with Luna Lindsey’s post on reticulating splines. But many others focus more on sensory overload and anxiety, something I don’t identify with as much. More evidence that we need to talk about autisms, not a single autism.

Feedback loops, introversion, and autism

In this article, Scott Barry Kaufman looks at a new study which may show evidence for intelligence as a feedback loop:

The researchers argue that their findings are best understood in terms of genotype-environment covariance, in which cognitive abilities and knowledge dynamically feed off each other. Those with a proclivity to engage in cognitive complexity will tend to seek out intellectually demanding environments. As they develop higher levels of cognitive ability, they will also tend to achieve relatively higher levels of knowledge. More knowledge will make it more likely that they will eventually end up in more cognitively demanding environments, which will facilitate the development of an even wider range of knowledge and skills. According to Kees-Jan Kan and colleagues, societal demands influence the development and interaction of multiple cognitive abilities and knowledge, thus causing positive correlations among each other, and giving rise to the general intelligence factor.

Scott talks about “Matthew effects” in his book,

… named for the biblical aphorism “For to him who has shall be given and he shall have abundance; but from him who does not have, even that which he has shall be taken away (Matthew 25:29).

The environment can take even a tiny genetic or environmental advantage and “multiply” it again and again as such interactions are reiterated through the course of one’s development. The other side of the coin is also possible, of course. A slight genetic or environmental disadvantage can lead a youngster to avoid situations where that difficulty would be revealed. Yet those are precisely the situations that would enable the child to practice the task and make up for the disadvantage. Instead, the child misses the boat while peers sail off ahead.

Often, we might attribute too much to innate traits rather than feedback loops and skill development, leading to a fixed rather than growth mindset. Let’s think about this beyond IQ, in the context of personality and autism.

For example, I would consider myself introverted, often defined as someone who loses energy during social interaction. Is this a fixed personality trait, or could it be a skills issue? What feedback loops might amplify avoidance of social interaction?

I “flunked” the Reading the Mind in the Eyes test. As a child (like my son) I avoided the other preschoolers and didn’t practice interacting with them, which I believe contributed to social incompetence later on. Once I decided maybe I should talk to a peer, in elementary school perhaps, I sucked at it.

Eventually (young adulthood?) other people mostly plateaued on social skills and I sort of caught up… especially in professional contexts where I’ve had many chances to practice.

In personal friendship contexts, I haven’t caught up to the average person, and so far I’m not willing to do the enormous amount of work I believe I’d have to do to catch up. Not to mention the embarrassment and anxiety.

According to the mind in the eyes test, I still don’t know what people’s facial expressions mean, and in conversations I’m trying to figure out what the hell is going on when (I guess) others are not. (This is sort of like being colorblind; you can’t tell there’s an issue without comparing to others or taking a test.)

How much of the “introversion” may be due to someone working harder due to poor skills — working harder leading to loss of “energy” and no rewarding feeling of “flow”? To what extent are poor interaction skills from a lack of practice rather than innate difference?

I certainly believe in innate difference; I watched how my own son’s temperament was baked in from a very early age, and saw how his temperament led to avoiding peers. Most parents can relate.

But we’ve also seen that intensive early intervention works. We’ve asked our son to practice interacting over and over and over, building those skills up. Where some parents make their kids practice the violin, we’re making him practice playing with a friend. And he’s gotten much better at interacting — and also much more interested in and comfortable with doing it.

We’re asking him to practice hard in order to break the feedback loop. Early intervention isn’t about the time with the therapist per se, it’s about play and friendships for many years to come, and how all those opportunities to practice may lead to better adult skills and a better life.

Sometimes I speculate that not liking to practice or strongly preferring knowing-what to knowing-how could be an early trait in my family’s particular flavor of autism. Or put another way, since the purpose of play is practice, not liking to play leads to missing important skills. Could this create the correlation between social skills deficits and motor skills deficits? Both social and motor skills are know-how rather than know-what tasks, typically learned through play.

It’s very likely that other classic autistic traits are part of a feedback loop. Take eye contact. Does someone avoid eye contact because they don’t get any meaningful information from it, or do they not get meaningful information from facial expressions because they’ve rarely practiced looking at people’s eyes? It might be both, feeding on one another.

For social interaction in general, the worse you are at it, the less rewarding it is. When interaction attempts routinely fail or backfire, you’ll soon give up and stop practicing. (And when you do practice, it won’t be with the kind of playful mindset that best supports learning.)

(One caveat that could apply to all my posts: autism should be the autisms, and what I’m saying here is based on my family’s kind, whatever it turns out to be. For example, intensive early intervention has little effect on some kids in many studies, while it has dramatic effects on others. Nobody knows why.)

an annotated, selected hyperlexia bibliography

We have much to learn about “subtypes” or “patterns” within autism. The DSM-5 just scrapped the most famous subtype, Asperger’s Syndrome, due to lack of evidence.

Nonetheless, anyone trying to understand themselves or a loved one will scour books and the Internet for anecdotal data that clicks. We all want to read about people who resonate with our own experiences. No matter where someone is on the spectrum, they’ll be able to find others who are remarkably similar, and still others they have little in common with.

People use the term hyperlexia for one of the less-well-known anecdotal subtypes, and I think I’ve found most of the materials on this subject. I thought I’d make a list of some favorites.

I should say, we’ve found generic “high-functioning” autism and Asperger’s resources more useful overall. Still, hyperlexia resources add extra ideas.

The very best resource may be paying attention to our son and what he’s doing today.

Background

The word hyperlexia is overloaded. In speech therapy it can refer to readers who are excellent at decoding but poor at comprehension (a sort of “reverse dyslexia”). But it can also refer to any precocious reader, to autistics who learn to read precociously, or to autistics who learn to read but have a lot of trouble with most other skills. There’s no “official” definition of hyperlexia (there’s no equivalent to the DSM criteria for autism).

My son and I both learned to read at age 2. For us, I believe reading is one example of a general love of learning information; not just any information, but structured information. For example, if you have things which go in a certain order, or can be placed in categories, those things are much more interesting to memorize. Letters, words, and numbers are at the top of the list. My son also loves street names and driving routes, for example.

He and I both like to explore alternative ways of organizing the same information. So for example, putting letters in reverse order, or sorting them into the three Handwriting Without Tears categories, or listing all the routes that could be taken to drive from point A to point B.

That’s what hyperlexia means to us. I don’t believe it is that different from the prototypical Asperger’s/HFA autistic, but it seems possible that there’s a little extra in common between kids who find letters fascinating at an early age.

From what my mother says, I was a more Aspie-prototypical “little professor” kid, while my son learned language in a different way that one hyperlexia source describes as “foreign language phrasebook” and another as “context-appropriate delayed echolalia.” He seemed to be brute-force rote-memorizing his way through language, treating every sentence as its own vocabulary word (while the more typical language development path catches on to syntax more quickly). On one formal language assessment, he had a gap between grammar (below average) and lexicon (above average). Over time his language has improved.

My son likes to learn and play with structured information. As far as I can tell it isn’t an anxiety response or otherwise something to pathologize. He finds it fun and interesting.

We’ve used this to teach. For example, he didn’t like to work on handwriting until he discovered that Handwriting Without Tears put the letters in three categories and gave him numbered steps to write each letter.

Bibliography

Phyllis Kupperman’s presentation. This may be the most comprehensive starting point. Phyllis Kupperman at the Center for Speech and Language Disorders in Chicago has seen many hyperlexic children. She has a continuing education presentation at linguisystems with lots of background, references to hyperlexia-related research, and her own observations. To read this presentation you have to pretend to be a speech therapist and sign up on the site (it’s free).

The Center for Speech and Language Disorders, Phyllis Kupperman’s practice, has some hyperlexia information online and a bibliography.

The Hyperlex discussion group has a lot of great people along with some useful info in the “Files” area. See the group here.

Priscilla Gilman’s book and writing. Ms. Gilman has a lovely memoir, The Anti-Romantic Child, about her son who has hyperlexia and autism. She wrote an abbreviated version of her story in this Newsweek article. She also wrote about the value of her son’s reading in the New York Times. Her work was meaningful to us because her account of her son was the first time we “recognized” a child very much like ours.

Reading Too Soon by Susan Miller. This out-of-print book has a lot of great detail. Keep in mind that much conventional wisdom about autism has changed over the last 20 years. Ms. Miller describes the “foreign language phrasebook” style of speech, and makes this observation:

Language and behavior can be taught very specifically. It is important to understand that hyperlexic children will not “pick up” from the culture around them the way most children do. Given a demonstration or visual model, however, these children can use their strong memories to their advantage.

I believe this is the same point as Hans Asperger’s in 1944: that the children he described did not learn “instinctively” and rather fell back on “the intellect.” (As you can see from the name of this blog, I value this observation as a way to describe myself and my son. Though at the same time, I haven’t found a characterization of what explicit/implicit intellect/instinct might mean in a scientifically-observable sense.)

Drawing a Blank: Improving Comprehension for Readers on the Autism Spectrum by Emily Iland — at last, a book in print! This one is specifically about strategies for readers who struggle with comprehension. As a parent of a child with autism, be aware that dyslexia (where the hard part is DECODING) is a MUCH more common reading disability than hyperlexia and autism (where the hard part is COMPREHENSION). The task of decoding may be very autism-friendly, at least for certain kinds of autism. Because dyslexia is more common, many educational materials and teacher instincts are backward for hyperlexics.

Drawing a Blank has a few pages of discussion about hyperlexia and possibly-associated traits.

Hyperlexia III: Separating ‘Autistic-like’ Behaviors from Autistic Disorder; Assessing Children who Read Early or Speak Late by Darold Treffert. One of the most commonly-referenced hyperlexia articles online, I found this one both fascinating and frustrating, so I’ll write a bit more about it. (For some reason, direct links to the article don’t work; you should be able to find it for free by searching the web for the title. Dr. Treffert also wrote a shortened version for Scientific American.)

Dr. Treffert argues that early reading may be simple precocity (“hyperlexia I”); a “splinter skill” amidst autism (“hyperlexia II”); or an autism-like developmental pathway he calls “hyperlexia III,” in which autistic traits fade over time.

This article attempts to distinguish autism-like from autism, an exercise that I have a lot of trouble buying into. To me, it’s also problematic to describe any skill as a splinter skill, something Priscilla Gilman gets at. Skills are skills, especially when they’re as powerful as reading.

Dr. Treffert does not suggest doing nothing in the case of hyperlexia III. He suggests seeking intervention as for autism: “Speech and language therapy, occupational therapy, and ABA to address the areas of speech and comprehension, sensory issues, social isolation and ritualistic behaviors, for example, can all help with the autistic-like symptoms, just as they do in those children with actual autistic disorder.”

My view, which seems to be shared by our local medical community, is that anyone who has autistic-like symptoms and needs those kinds of interventions has autism. (And from a practical perspective, if a person needs those interventions, they had better be diagnosed with autism or they will not get adequate help — barring wealthy benefactors.)

On the Internet, I’ve seen more than one parent grasp at the “hyperlexia I, II, III” categories in order to escape the dreaded word “autism.” Please remember that simply avoiding the word does not change a person, while appropriate help may well do so. Children may be precocious readers, gifted, introverted, and have significant difficulty in areas such as social interaction and motor skills, as I did.

For the smartest kids, earlier intervention may well be the best, because they may be the most self-aware when older, and very responsive to early help. Parents’ fear of autism doesn’t do these kids a service. (See also this book and this book, but most importantly remember to see a dimensional person, don’t get hung up on categories. Don’t imbue the word “autism” with too much power; as you can see from Dr. Treffert’s paper among others, the experts don’t even agree on what it means.)

My mother read Dr. Treffert’s article and felt that I was a good fit for “hyperlexia I” while my son was a good fit for “hyperlexia III.” But I was also a good fit for Asperger’s Syndrome and was socially incompetent throughout school, with repercussions into adulthood. The key trait Dr. Treffert notes for “hyperlexia III” is “affection,” but plenty of kids with autism are both affectionate and have autistic traits that stick around long-term (look no further than Priscilla Gilman’s son, or our son so far, for examples).

I very much appreciated Dr. Treffert’s attempt to unpack some different developmental patterns and the characteristics he had seen in his career. I also appreciated knowing my son was not alone (the “hyperlexia III” description does fit him well).

At the same time, I think it’s more mainstream (and likely more useful in practice) to look at hyperlexia and affectionate/attention-seeking behaviors as “good signs” within autism, rather than indicators of a not-currently-recognized condition distinct from autism. For now, autism is a family of autism-like conditions, and nobody really knows how to break them apart.

It’s safe to guess that hyperlexia I, II, III are points on a spectrum rather than discrete entities, too.

Hyperlexia in Children with Autism Spectrum Disorders, Tina Newman et al. PDF document here.  Some interesting findings: that decoding-with-poor comprehension exists; and that hyperlexic autistics had strong nonword reading (were decoding, not sight-reading). On a more personal note, the paper mentions that “Two families reported that their young children would pull them around parking lots to read all the numbers and letters on the license plates,” an experience we remember well (our son did this often from age 2-3 or so).

This paper also has a lot of good references to trace if you’d like to start reading scientific papers related to autism and hyperlexia, though many are not available online. One notable piece of prior research cited,  from Fisher et al., found that hyperlexia was a strong indicator of positive outcomes in autism (note that this may be an alternative way to interpret Dr. Treffert’s “Hyperlexia III”).

A Descriptive Study of Hyperlexia in a Clinically Referred Sample of Children With Developmental Delays, Elena Grigorenko et al. On Springer here, though I think I found it as a free download someplace I can’t find right now. Two findings in this paper were that all of the hyperlexics among the 80 children studied were diagnosed with autism; and that hyperlexia was not associated with IQ (it was not more characteristic of the high-IQ children than the other children).

Incidentally, all these hyperlexia papers are great examples of more useful autism research. Scientifically, early reading by itself is almost certainly a red herring, in that there won’t be an “early reading” neurology. Rather, either some neurologies are more likely to learn to read early, or learning to read early affects development in important ways, or both. But it’s great to see researchers digging in to the autisms and looking for meaningful distinctions.

the trouble with “overdiagnosis” rhetoric

There’s a common sentiment — one I shared before I knew anything about autism — that kids today get too many labels. How can such a huge percentage of kids have autism, ADHD, and so forth? Here’s today’s example article at Salon.

I’ve come to believe that there’s a real concern behind this sentiment, but it accepts too much of the status quo. The problem is not that we’re putting people on the wrong side of the line; the problem is that our bureaucracies insist on drawing a bright line where there isn’t one… and that people are so afraid of autism when they need not be.

If we look at real humans in all their dimensional richness, then we can estimate that they are at 10th or 90th or 99th percentile on “autistic traits,” as observed on some measure such as the ADOS. These tests (not 100% successfully) try to to pick apart autism as its own separate trait, distinct from IQ, personality, or other factors.

I haven’t seen convincing research that supports a bimodal distribution. There isn’t some kind of bright line where you have autism on one side and not-autism on the other side. (If you have a good counterpoint reference here, send it along!) There seems to be evidence to the contrary, in fact (search term: “broad autism phenotype”).

So imagine the current autism line is at the 99th percentile of autistic traits (consistent with around 1 in 100 prevalence). If we measure someone at 98th percentile instead of 99th, or 99th instead of 98th, is that some sort of horrible travesty? Many experts say that these “just outside the line” people would benefit from the same supports that “just inside the line” people will.

If we get worked into a lather about overdiagnosis, our objection is something like “this person has many of the same traits and needs the same help as a person with autism, but isn’t quite autistic!” What does that even mean? Who cares?

If a kid doesn’t interact with peers, they’ll probably benefit from some prodding and help to do so. If an adult can’t manage friendships and it makes them unhappy, they’ll probably benefit from help addressing that need.

When we brought concerns about our son to a doctor, we had a speech evaluation after just a week or two of waiting, and it established that he had a language delay. But insurance didn’t cover “needs help with language”; it only covered “autism.” We had to wait 4 months to get the full autism workup, at which point we could get speech therapy covered. How does this make sense?

If someone “needs help with language” they should get help with language. If they “need help with peer interaction” they should get help with peer interaction. If they “need help with reading” they should get help with reading. What does a binary, yes-or-no diagnostic label have to do with it?

Sure, it’s useful to do a full assessment. Look at IQ; look at personality traits such as anxiety; look at autistic traits such as ADOS score. All these things are valuable in understanding a person. But if we’re trying to draw some kind of bright line between 98th percentile ADOS gets nothing and 99th percentile ADOS gets 20 hours per week of intensive intervention, we’re out of our minds.

I’ve noticed that none of our son’s therapists or educators really use the autism diagnosis at all because it simply does not have significance to their practice. In practice, we want to know “can the child answer wh-questions? if not then let’s work on it” or “does the child make requests to peers? if not then let’s work on it.” In fact, using the diagnosis usually leads them to misjudge what our son needs; they might decide he needs visual rather than written supports even though he’s been reading since age 2, for example, because kids with autism are “visual thinkers.”

People also object to overdiagnosis because they feel that labels are harmful. “Why lower the child’s self-esteem and stress out the family?”

But wait. Is the harmful side of labeling somehow OK if a person has “enough” autism? Why should anyone have to suffer here? How about working to remove the harm of these labels, or how about simply sticking to dimensional measures? The problem is medicalization, pathologization, and stigma; the problem is not our recognition of someone’s individual needs.

Dr. Gnaulati’s argument in Salon boils down to: we mistreat autistics so badly that we should avoid saying that anyone is autistic, unless we absolutely have to. He says if we label someone autistic we’ll “devalue their mental gifts” and treat their strengths as “symptom[s] to be stamped out.” Maybe the problem is mistreating autistics, rather than exactly which people get this mistreatment. I certainly do not treat my son in the way he describes, and neither do any educators or therapists if we’re going to keep working with them.

What I’d like to see, emphasized much more than a diagnostic label, would be something like: “according to our tests, this person has XX percentile IQ, XX percentile creativity, XX percentile autism, XX percentile language, XX percentile whatever else… all of these have a huge margin of error… and overall we think doing A, B, and C would be beneficial for this person, but let’s adapt our approach over time as we learn more. And let’s focus on possibility not probability.” That’s the honest approach.

Labels come about because our institutions, medical and educational, are incapable of dealing with individuality unless they’re forced to. Insurance companies and schools need a label. I say: if that’s what bureaucracy requires, then that’s what bureaucracy gets. Let’s label everyone who needs any kind of individualization — pretty much EVERYONE.  Not my problem and not going to affect my self-image or my image of my son. This is a bureaucratic hoop.

Adopting labels to get help isn’t “overdiagnosis”; it’s an understandable and rational response to inflexible institutions and their refusal to deal in subtlety or individuality. The word “overdiagnosis” implies that there’s something more at stake than nonsensical hoop-jumping. It blames the wrong people for the wrong problem.

Labels are equally problematic when they are “positive,” such as “gifted,” or “high-functioning.” Is the just-barely-gifted child so different from the almost-gifted child? Get real.

Reducing a dimensional, varying-over-time trait to a yes-or-no question throws out a hell of a lot of information.

Maybe a problem is that we tell parents their children are “broken” or “not broken” or “gifted” or some other bucket, instead of giving them useful insights. Maybe the problem is that not all autistics are the same, and individualized education and support therefore has to be exactly that. Add up ADHD and dyslexia and gifted and everything else, and the reality is that people are diverse. Our institutions should be built assuming diversity — but they are not. The solution to this is not to make our diagnostic buckets more accurate; the solution is to think about people instead of buckets.

One more point about autism specifically. Researchers, educators, and clinicians seem to disagree on whether the autism cutoff has to do with “degree of autistic traits” or “level of impairment in practice.” Say you have someone with a high IQ and very resilient personality, with the same degree of “autistic neurology” as someone with lower IQ and a fragile, anxious personality. The outcomes may be very different. Is an autism diagnosis determined by the practical outcome, or by autistic traits?

If your goal is to research the relationship of autism to specific neurological differences, you may want to look at autistic traits, not outcome. If your goal is to decide whether someone qualifies for disability benefits, you want to look at outcome. Much casual discussion, research, and clinical practice is completely unclear on whether autism is a trait or an outcome. Even the DSM is unclear on this.

Overall life outcome will be a function of many factors; many traits, many life experiences. Plenty of people who display autistic traits as toddlers will have a good outcome (not that a good outcome has to involve dropping autistic traits). We don’t have enough research to reliably predict who will have the best outcomes. If we say the ones with optimal outcomes were “misdiagnosed,” we’re implying things like:

  • it was a mistake to offer these kids help
  • the clinician could have or should have predicted the outcome
  • the kids have no trace of “autistic neurology” when older

As far as I know, we can’t say those things yet.

In young children, we don’t know their eventual level of impairment, only their age-normed degree of autistic traits. That’s why childhood diagnosis is based on traits more so than impairment. (Incidentally: scores on the same ADOS module drop as children get older, because kids often learn the behaviors ADOS looks at over time … autism is identified by the delay in some of the behaviors.)

Making this more concrete, let’s take my son. He didn’t spontaneously take up pretend play. But since he’s very bright, as soon as someone shows him a game such as “let’s pretend to go camping” he can learn it and even vary it. Later, someone comes along and they might say “well this kid can play camping, so it isn’t autism.” Has his autism been cured? I don’t think it has. He’s an autistic kid who can play camping.

But I do think his practical difficulty faced is less than that of a child who might be unable to learn to play camping. That’s because my son has an amazing memory which he uses to adapt. The autistic trait is still there (that playing camping didn’t independently occur to him as an interesting thing to do), but his intellectual strengths allowed him to play camping with some friends the other day, and he loved it.

Or take me — I had a hard time as a child, but as an adult, I’m completely capable of handling most social situations, especially professional ones that I’ve practiced thousands of times. Am I “less autistic” than the younger version of myself that couldn’t handle those? I don’t think it makes sense to say that. It does make sense to say that I need no supports now, but I used to need them then. The “it’s misdiagnosed unless the person is greatly impaired” camp might say that I’ve “cured” myself over time, but I’d prefer to say that I’ve learned and adapted.

The DSM, of course, contributes to the mess. It defines autism as a list of autism-like traits (though some disagree and attempt to distinguish “autism-like” from “autism”). If autism-like can be split from autism with the DSM criteria, it’s only by relying on weasel adverbs such as “significantly,” or something like “experts know it when they see it.”

Let’s face it that autism-like is autism for now, because we don’t know the etiology. We don’t know the bright line. All we know is that if a person has certain traits, they likely (though not certainly) would benefit from a certain kind of help. In adults we can ask “are they unhappy about something and do they want help with it?”, in kids we have to guess at the future.

In fact, it’s a minor miracle that the ADOS and other clinical tools work as well as they do; predicting a lifelong pattern based on a few behavior details at age two or three is amazing, even if not perfect.

Sorry to rant at so much length, but as you can see I find this very frustrating.

Getting outraged about “misdiagnosis” misses the point; it blames clinicians and parents and autistics. But our current knowledge does not support the idea of drawing a bright line. It supports the idea of measuring individuals along many dimensions and providing them the individual supports they likely need based on what we know. The need for a bright line comes from politicians and bureaucrats, and those are the people who should catch flak.  Why are we complaining about clinicians and parents for “drawing the line in the wrong place” when many people aren’t interested in this stupid line-drawing exercise in the first place?

My son’s therapists, and his parents, would be more than happy to help him with peer interaction and language purely on the basis that he needs help with those things. “Defining autism” is somebody else’s made-up problem, not mine.

The diagnostic line shouldn’t even matter that much, unless we’re mistreating people based on it. Let’s stop that.

P.S. According to the local school team, an independent autism-specialist diagnostic team, CARS, ADOS, SRS, and more, my son’s autism was “clear.” He’s as tested and certified as it gets. According to me before hearing all that, it was borderline. It turns out that my frame of reference was from my own childhood and my relatives’ behavior — everything I grew up with was toward the autism end of the human spectrum.  So my perception of “normal” is someone else’s perception of “autism.” I’m not the parent claiming my kid has autism while the experts disagree; very much the opposite.

P.P.S. What does the “overdiagnosis” crowd propose we do about it? You don’t just go talk to a psychologist for 15 minutes and get an “autism” sticker. Our son was evaluated by two independent teams, one at the local school (potentially biased against providing services) and one at the local autism center. All had extensive autism experience. Between them they spent many hours, used 5 different well-validated autism-specific diagnostic instruments, interviewed both parents and teachers, observed our son in preschool, did non-autism-specific assessments such as intelligence and language… on the whole it was extremely thorough and evidence-based. If they still turn out to have “misdiagnosed” him because he turns out to be a perfectly happy person — which I expect! — then what were they supposed to do? Ignore what they were looking at? Spend even more time? What is the suggestion?

Dr. Gnaulati uses the case of William as an example, and says “within minutes of playing with William, I knew, unequivocally, that he was not ‘on the spectrum.’” Is his suggestion that his 5-minute expert judgment (gut feel?) is the right way to diagnose autism? Did previous evaluators of William see something different, or did they disagree with Dr. Gnaulati on where the “autism cutoff” lies? What are parents and autistics supposed to make of this clinical infighting?

It’s easy to say in retrospect that autism interventions were an overreaction to a particular person’s autistic traits (though we can’t know what would have happened without intervention). But how do we know what to do looking forward?

relating to “far from the tree”

I’m pretty new to the autism world, but I’ve had an experience similar to one Angelique describes in this post. It’s hard for me to take the perspective of parents who see their child as “far from the tree.”

For us to accept our son’s diagnosis we had to self-pathologize — we had to learn that others consider certain traits we have and that we love about our son a medical issue. For parents who don’t go through that journey, the medicalization of autism may never be questioned; it’s framed to them as a disease and a problem, and they internalize this framing. As Angelique says about this other parent, “she wants to do what is best for her child, but has been cocooned in the medical world.”

I’m tempted to put in tons of nuances and disclaimers here, but let me start with one. I’m not saying there’s no problem.

I was a child who didn’t talk to the other preschoolers, would go on and on about special interests in “little professor” mode, and all the rest. I was bullied and had no friends, and it was a problem which made me miserable at the time. I would have benefited from help. At the same time, my parents had an exclusively positive perspective on these traits. Intelligence, independence from the crowd, digging deeply into interests, these are all good things. They fought for me to have a better situation at school and when my traits were problematic they blamed others for their inability to adapt and understand. They found countless opportunities for me to build on my strengths, and I did.

Verbal, high-IQ autism did not exist in the minds of doctors and educators when I was a kid, of course, so there was no risk of a label and it didn’t enter anyone’s mind.

So with our son there’s a very difficult process of keeping two things in mind at the same time.

  • First that he does need individualized education, recognizing that he learns systemizable information (such as how to read) almost instantly but has to be explicitly taught how to play with other kids. And the only way to get that education, right now, is through an essentially medical process of diagnosis and insurance filings.
  • Second that he is just fine, awesome, and not “broken” or “diseased.”

The human mind has a lot of trouble with this kind of thing. If we use a conceptual framework such as “diagnosis” and “disease,” then our brain automatically and without conscious decision pulls in a bunch of implications that go with that framework. For autism and disease, many of these implications are wrong:

  • that the condition is unequivocally “bad”
  • that there’s a cure
  • that the cure is “medical” in nature (drugs, diet, etc.)
  • that the condition is binary (have it or don’t) rather than dimensional (have a degree of it)
  • that working with a person is “therapy” rather than “education”
  • that it’s a single condition rather than a trait or symptom (with many causes)

It’s sort of like saying that variation in personality or in IQ counts as a disease; those things may be related to some diseases, and they may create problems that make people unhappy, but they are not by themselves diseases. They are traits.

Right now we have health insurance paying for our son to practice pretend play, conversation, etc. for hours every day, and it’s making a huge difference for him — what could be better than seeing him have a ton of fun running around the house with a friend? We finally had a chance to see that the other day.

I’m grateful that the world considers autism a medical problem in that it gets him this education he needs. However, in my mind this is a fiction to get services, only needed because our educational system sucks at individualization.

I think it took me until middle school or so to even notice that I didn’t have any friends, so I missed years of opportunity to practice social skills. That’s why we’re pushing my son to work hard and learn skills he doesn’t naturally go for.  Soon, though, I think we have to switch to emphasizing his strengths; nobody succeeds on the basis of mitigating weaknesses. It’s very hard to think about this… I’m not sure how to balance helping him avoid some of my own struggles, while helping him appreciate his own strengths.

Let me mention another disclaimer. There’s plenty of evidence that some autisms co-occur with or share a cause with truly medical issues: seizures, tuberous sclerosis, or perhaps many others — the research is not there yet. Many children with autism have medical issues which may share a root cause with autism, or may cause them discomfort contributing to problematic behavior.

I do, however, strongly question that the autism diagnostic criteria by themselves are a disease; plenty of adults who meet those criteria have been very happy and have made huge contributions to society, especially in intellectual fields, not in spite of but rather because of autistic traits.

That’s why I feel bad meeting parents who are confused and sad about their child, perhaps looking for a magic pill or diet, when their child’s traits may be more like a quirky personality than a disease, and their child may have many strengths to build on. I don’t quite know what to say. I’m not angry at them; it’s very hard to be a parent. Some of them may also be quite right that their child has an underlying medical problem, and of course some children will be significantly disabled for life. But it isn’t true just because of an autism diagnosis. We have to know our individual children.

Often I want to find a way to tell someone, without making them defensive, that I know lots of people with autistic traits who are very happy and successful. That I was a kid who didn’t really ever have proper friends in school, but it’s OK. That they don’t have to feel quite so bad. But of course I’m not very good at delicate conversations like that!