The circadian prison

I had no idea my sleep-wake cycle was pathological until I saw a presentation a few years ago by the geneticist Thomas Bourgeron. One of his interests is clock genes in autism. In fact only by speaking with him did it dawn on me that I lack a circadian rhythm.

As it turns out, autistics are considered to have circadian clocks "gone bad." Two reviews (Bourgeron, 2007; Glickman, 2010) cover the evidence with respect to autism and circadian rhythms, most of it in the direction of comprehensive atypicalities. Glickman (2010) summarizes the problem:

Disturbed sleep-wake patterns and abnormal hormone profiles in children with autism suggest an underlying impairment of the circadian timing system.

And autistic children's bad timing, when it comes to sleeping and waking, is considered disruptive or worse, both to themselves and their sleep-deprived families. Bourgeron (2007) raises the further concern that typical sleep-wake patterns are essential for "appropriate" development, for the functioning of memory, and so on. Apparently there is nothing good about autistics' bad circadian clocks.

Autistics whose sleep-wake cycles carry on independently from environmental and social cues are said to be "freerunning." My form of freerunning is extreme. I can sleep whenever I want--a few hours here, twelve hours there, as necessary, no matter the time of day or night. I enjoy sunlight but its absence has no effect on my mood, or on my sleep. I can work through nights, no problem, and shift to days in a blink. I've never suffered through jet lag. And so on. Until I ran into Bourgeron I had no idea this was considered pathological, at least in an autistic.

The usual response to freerunning in autism is to see this as an autism-related sleep disorder. There is very preliminary evidence that freerunning autistics can be successfully treated with melatonin. Bourgeron (2007) refers to a short case study about an autistic whose free-running was remediated by melatonin treatment.

Of course nonautistics take melatonin too. They put themselves through sleep hygiene routines and they go to sleep clinics in droves. They suffer terribly from shift work and jet lag, and inadequate efforts to eradicate this suffering are everywhere, from new drugs to new iPhone apps.

There is an enormous market for products and services that can treat individuals who stray from the proper expected sleep-wake cycle. Remarkably, the goal is never to free people from their circadian prisons but to return them there and keep them there. The schedule may be changed, with effort, but the prison remains the same.

The next time I spoke with Bourgeron, I told him there should be a sort of anti-melatonin which would allow people to freerun like me, ergo avoiding the ills of jet lag, shift work, and what-all. It seems possible no one has seriously thought of this.

I suggested the anti-melatonin idea to some nonautistic colleagues. They burst into stories about destroyed careers, disrupted lives. In constrast with autistics like me, my colleagues have perfectly "good" circadian clocks--which turn out to be incompatible with their challenging lives. They suffered, for being normally chained to their normal circadian rhythms.

If there was a pill that could give them my very dysfunctional clock so they could freerun to the extreme, they would buy it in bulk. But there isn't. Instead there is the assumption that everyone has to live in a circadian prison.

Glickman (2010) speculates that some autistics' failure to chain our sleep-wake cycles to environmental cues (you can find information about entrainment, as this process is called, here) may arise from our atypical perception. My totally wild guess might be that an extreme freerunning phenotype in autism may be contributed to in part by cognitive versatility in autism, which would result in perceived environmental cues affecting sleep-wake cycles in an optional rather than mandatory way.

The renowned Bora Zivkovic, who unlike me knows all about circadian clocks, recently wrote that--unlike me--typical people have "have complex circadian systems that are easy to get out of whack" with dire consequences:

In the state of almost permanent jet-lag that many of us live in, a lot of things go wrong. We get sleeping disorders, eating disorders, obesity, compromised immunity leading to cancer, problems with reproduction, increase in psychiatric problems, the Seasonal Affective Disorder, prevalence of stomach ulcers and breast cancer in night-shift nurses, etc.

BoraZ was writing enviously about reindeer who live with drastic changes of season yet have escaped this kind of misery, possibly by having a "low-amplitude" clock. They just stroll out of their circadian prisons, whenever it's adapative. How can poor suffering human beings do this, is the question--finally. It's a very good question.


References:

Bourgeron, T. (2007). The Possible Interplay of Synaptic and Clock Genes in Autism Spectrum Disorders Cold Spring Harbor Symposia on Quantitative Biology, 72 (1), 645-654 DOI: 10.1101/sqb.2007.72.020

Glickman, G. (2010). Circadian rhythms and sleep in children with autism Neuroscience & Biobehavioral Reviews, 34 (5), 755-768 DOI: 10.1016/j.neubiorev.2009.11.017


Postscript: This post has been included in the 32nd edition of Scientia Pro Publica.

Oxytocin versus autism: A cure for altruism

The widespread message arising from Andari et al. (in press) is that the hormone oxytocin "may be a powerful weapon in fighting autism" or words to that effect.

The heart of this study is a computer game version of catch which appears to involve four human players. When a player is thrown the ball, he must then throw it to another player of his choice. Every time a player receives the ball, he receives a bit of money.

In Andari et al. (in press), small groups of autistic and nonautistic adults ("P") individually play this game with three strangers ("A" "B" "C"). Much is done to persuade the autistic and nonautistic participants that the strangers, who in fact are elaborately programmed, are actual, present, proximate (in adjacent booths), decision-making human beings.

The three strangers start by equally distributing the ball to the other players. Then the elaborate program kicks in: A and C increasingly favour one player (P and B, respectively) while shunning the others. B's behaviour does not change.

In a prototypical display of us-vs-them thinking, the nonautistic Ps responded by ganging up with A to reap the social and monetary gains of a close alliance founded on the exclusion of half the players.

The autistic Ps in contrast displayed no such selfish and discriminatory behaviour. They continued to throw the ball to the other players in equal proportion, ignoring their self-interest in favour of keeping all players equally included.

Further, subjective ratings of the other players revealed that the autistic Ps did not have the kinds of biases that are routinely called hypocrisy. They did not judge C, who shared the most with B, as worse or less trustworthy than A, who shared the most with themselves.

According to Andari et al. (in press), autistics "cannot understand or engage in social situations," as evidenced by autistics' outstandingly altruistic performance in this game. It is this profound social deficit, this altruistic autistic behaviour, that was targeted for treatment.

And indeed, the treatment was successful. Autistics randomly administered a nasal mist containing oxytocin, rather than a saline placebo, significantly improved. They became willing to work with one of the players in an effort to shun and discriminate against the other two, and thereby get more than their fair share of money and attention. They became willing to see the player who shared with them as good and trustworthy, and the player who shared with someone else as bad and untrustworthy. They learned and displayed selfishness and hypocrisy and us-vs-them thinking. Their objectivity, fairness, and altruism were--temporarily--cured.

Then this finding was replicated in a second small group of autistic adults who performed the same task but without monetary rewards.

Success! Cue the avalanche of blogging and media stories. Uta Frith says, "This could be revolutionary."

There is more to Andari et al. (in press), which also reports on two tasks involving face images, about which a few quick notes:

1. There is little ecological evidence that autistics avoid face images or do not make eye contact with face images.

2. Numerous other studies (a few examples here, here, here, here) which feature stronger designs (e.g., use of fixation crosses) have found typical duration and distribution of visual fixations to human face images, and/or typical attention to the eye area, in autistics.

3. For the nonautistic participants, the reported total visual fixation time to the face images--the crucial measure--well exceeds the total exposure time (both tasks), which has me, for one, scratching my head.

4. As yet there is no evidence that the reported oxytocin-related measured changes in visual fixation times to face images would overall be more beneficial than harmful to autistics.

5. In other studies (examples here and here) faster saccades and shorter visual fixation times, presumed by Andari et al. (in press) to be a very bad thing, have been associated with enhanced performance in autistics.

All this too is telling in its way, but it cannot equal the reported spectacular findings with respect to autism and altruism. In this respect Andari et al. (in press), even with its obvious limitations in design, is an enormously valuable paper. It has much to reveal about how autistics are regarded, and about the nature and consequences of the fight against autism.

For more about us-vs-them thinking in autistics and nonautistics, I recommend Tyler Cowen's prescient book, Create Your Own Economy, as well as this related video.

Interpretations of Andari et al. (in press) which in no way resemble the above can be found here, here, and here.


Reference:

Andari, E., Duhamel, J., Zalla, T., Herbrecht, E., Leboyer, M., & Sirigu, A. (2010). Promoting social behavior with oxytocin in high-functioning autism spectrum disorders Proceedings of the National Academy of Sciences DOI: 10.1073/pnas.0910249107


Postscript: This post has been included in the 22nd edition of Scientia Pro Publica.

What is severe autism?

We have to wait, patiently, for the DSM-V people to cough up their system for ranking and classifying all autistics according autism "severity." In the meantime, some recently reported data are worth mulling over.

First, here is the most recent unofficial DSM-V autism "severity" ranking-system proposal, and here is my response, including information about instruments commonly claimed to measure autism "severity." The current official DSM-V void in this area can be located here.

An increasingly prominent measure of autism "severity" is the Social Responsiveness Scale. Developed by John Constantino, it now exists in different age-range versions. Its purpose encompasses quantifying what are presumed to be autistic traits, from none on up, across the full range of humanity.

The SRS is a 65-item questionaire most often filled out by parents or teachers, whose ratings classify children according to "severity of autistic symptomology." Higher scores, above an established threshold, indicate greater autism "severity," and are therefore considered worse.

In a recently epublished high-profile paper (Roberts et al., in press), SRS scores were reported for 25 autistic children who were recruited then divided into two groups according to performance on a popular test of language abilities.

The children were about 10 years old. Sixteen autistic children classified as non-language-impaired achieved an average language ability score of ~100, right at the mean for the administered test. In contrast, nine autistic children classified as language-impaired scored ~65, more than two standard deviations lower.

I'm going to ignore the main purpose of this interesting study, which used magnetoencephalography to compare auditory evoked responses in autistics and nonautistics. Instead I'll concentrate on how this divided sample of autistic children was characterized.

Apart from language scores, the authors reported what could be considered verbal and performance intelligence, as per indexes from the latest child version of the Wechsler scales. Here the non-language-impaired autistic children scored significantly higher, with ~20-point and ~16-point advantages, respectively, over the language-impaired autistic group.

As I wrote above, Roberts et al. (in press) also reported SRS scores, described here as "dimensional symptom severity ratings."

SRS raw scores are commonly used in research, but the SRS has also been standardized, providing T-scores which account for variables such as gender and differences between raters (e.g. parents vs teachers). T-scores are standard scores with a mean of 50 and a standard deviation of 10.

While the SRS is not yet considered a diagnostic instrument, a T-score of 60, one SD above the mean, is currently the SRS-based cut-off for an autistic spectrum diagnosis. Standard scores from 60 to 75 currently indicate SRS-based "mild to moderate" autism; 76 or higher is the SRS-based "severe" autism range.

As might be predicted, the two autistic groups in Roberts et al. (in press) differed significantly on SRS T-scores; that is, they differed on autism "severity." One group scored on average 70.89, falling into the "mild to moderate" range. The other scored 81.44, a full standard deviation higher, and crossed the threshold into "severe" autism.

As wouldn't be predicted at all, the non-language-impaired autistics, who had advantages not only in language but on measures of intelligence, were the "severe" autistics, while the language-impaired children were the "mild to moderate" ones.

My wild guess is that if an autism intervention was shown in fair tests to consistently produce a reduction in SRS scores of a full standard deviation, and what's more, transported groups--however small--of autistic children from the "severe" to the "mild to moderate" SRS range, this would be considered tremendous progress.

The sample of autistic children in Roberts et al. (in press) is of course very small, as is charateristic of the bulk of the autism literature, and much can happen within such small sample. But these data aren't inconsistent with numerous other existing reports, and deserve at least a look while we wait, patiently, for the DSM-V people to proclaim on autism "severity."

You can find an uncritical short blurb about the SRS, which used to be called the "Social Reciprocity Scale," here, and a more extensive, critical description here.

Many thanks to Jennifer Stevenson for (patiently) answering my questions about the SRS. Any factual errors are entirely mine and should you find any, you should alert me immediately.


Reference:

Roberts TP, Khan SY, Rey M, Monroe JF, Cannon K, Blaskey L, Woldoff S, Qasmieh S, Gandal M, Schmidt GL, Zarnow DM, Levy SE, & Edgar JC (2010). MEG detection of delayed auditory evoked responses in autism spectrum disorders: towards an imaging biomarker for autism. Autism research : official journal of the International Society for Autism Research PMID: 20063319


Postscript: This post has been included in the 21st edition of Scientia Pro Publica.

Proposed new autism criteria: the DSM-V

Here they are and here are ten off-the-cuff thoughts:

1. The most sit-up-and-take-notice change is the total removal of Rett syndrome from the DSM. It is gone. The DSM-V people are saying, "genetic syndromes don't belong in our book," or words to that effect, and I agree.

2. Indeed the vast majority of named neurodevelopmental disabilities do not appear in the DSM, past, present, or future. This raises the question of why autism is there. Rett's being excluded is not going to immediately result in Rett's individuals being catastrophically deprived of recognition or assistance. Instead it may result in these individuals being regarded more accurately, to their great benefit. Removing autism from the DSM would have the same beneficial effect.

3. Another change to grapple with: CDD (Childhood Disintegrative Disorder) is now lumped in with autism, which in turn has a single vaguely phrased onset criterion. To cover CDD (Volkmar et al., 2005), that criterion will have to cover onset at age 5 (fairly common in CDD) and up to age nine (rare, but happens).

4. In addition, autism and CDD have very different cognitive profiles. This is one of many ways in which the DSM-V, even more than its predecessor, is running away from the productive and beneficial--to autistics--notion of autism as a cognitive phenotype.

5. The headline-making but most predictable--and most predictably responded to--change is the loss of Asperger's and PDD-NOS, which have both always been considered part of the autistic spectrum, as distinct-from-autism diagnoses. Whatever their shortcomings, the loss of these diagnoses is another signal that autism is, officially and more so than ever, merely a series of deficits in overt typical behaviour.

6. At the very least, the DSM-V strongly discourages any view of autism as an atypical cognitive phenotype involving relative (to nonautistics) cognitive strengths and weaknesses.

7. The changed criteria, which collapse the DSM-IV social and communication domains, overlook any role for manual and oral motor abilities in these two areas. And whose definition of the now-mandatory social reciprocity criterion will prevail? Here is John Constantino's one-way-street definition:

Reciprocal social behavior refers to the extent to which a child engages in emotionally appropriate turn-taking social interaction with others.

The closer-to-equal time, so to speak, now granted the previously-relegated RIRB (restricted interests and repetitive behaviours) domain could be seen as progress, ditto the disappearance of the "nonfunctional" assumption. But autistics will no longer have DSM-IV unusually focused and intense interests (a strength), we will instead be pathologically fixated.

8. The vagueness and subjectivity of the criteria should later be elaborated on with explanatory text which may add or subtract clarity. And the highly-publicized DSM-V effort to rank and classify all autistics according to a rigid hierarchy of "severity" is as yet missing. How the DSM-V will handle aspects of the by-far most important distinction within the autistic spectrum--the idiopathic vs etiological autism distinction (and see genetic syndromes, above)--remains to be seen.

9. While the DSM-V has enormous political clout, what might change in actual diagnostic practices is unclear. Clinicians and entities currently employing anything-goes or free-for-all and/or expedient-type standards are unlikely to change in this respect. And in many ways DSM-V autism is autism altered to conform to the current "gold-standard" autism diagnostic instruments (see the role of Catherine Lord in both), whose predominance, weaknesses and limitations have come to determine what autism is and isn't.

10. Organizations which (a) have little use for basic autism research (the kind I'm involved in) or actually oppose it; and (b) promote political views of autism, including that more services are always better--will likely be happy with the DSM-V changes. You can see ASAN fulfill this prediction here.


Reference:

Volkmar, F.R, Koenig, K., & State, M. (2005). Childhood Disintegrative Disorder. In: Volkmar, F.R., Paul, R., Klin, A.,Cohen, D. (Eds.), Handbook of Autism and Pervasive Developmental Disorders . Hoboken, NJ: Wiley.


Postscript: Another view of the new autism criteria is here. An overview of the proposed DSM-V in many areas is here.

Very early autism intervention: the Early Start Denver Model

Early autism intervention research carries consequences for all autistics, and for a lot of nonautistics as well. DawsonG et al. (2010) is a newly-published randomized controlled trial of a newly-developed manualized very early autism intervention and as such deserves a close look.

Developed by Sally Rogers and Geraldine Dawson, the Early Start Denver Model has been the subject of a handful of previous papers, none involving anything approaching a major trial. ESDM is reported to combine the Denver Model with Pivotal Response Training, two interventions developed in the 1980s which individually lack good quality evidence for their benefits or harms. If you are interested in ESDM and its possible fall-out, I suggest reading the existing DM, PRT, and ESDM literatures.

A book chapter, possibly written circa 2006, describes the ESDM RCT, apparently before all the results were in (SmithM et al., 2008), and is essential reading, as is the riveting recently-published ESDM manual (Rogers & DawsonG, 2010).

My first exposure to the foundations of ESDM was a 2003 presentation by Sally Rogers. She showed a video of an adult picking up two blocks and banging them together and putting them down. In response a very young nonautistic child automatically picked up the blocks, banged them together, and put them down. A very young autistic child immediately noticed that the blocks were very interesting-shaped (and really they were--these were incredibly interesting blocks), picked them up, and inspected them closely seeing as they were so darn interesting.

You can guess which child's response was deemed wonderful and praiseworthy and "right," and which child's response was deemed defective and unfortunate and totally wrong. With this in mind, here are some comments:

About the ESDM

1. According to current definitions, ESDM is an "eclectic" autism intervention, combining ABA-based with non-ABA-based approaches. The manual specifies that ESDM "most closely resembles" RDI, DIR/Floortime, Hanen, responsiveness training, and SCERTS. ESDM also "has clear ties to" PRT, incidental teaching, and milieu teaching. And ESDM "has in common" some elements of ABA-based interventions as per Lovaas. Speech and occupational therapy are also thrown in. PROMPT too. The wide range of intervention approaches constantly available to children receiving ESDM is emphasized in all its available descriptions.

2. On principle and on the basis of small poor-quality trials, major behaviour analysts have claimed that "eclectic" autism interventions are ineffective; two recent examples here and here. The Association of Professional Behavior Analysts has thoroughly condemned "eclectic" approaches to autism, to uncritical applause by the Association for Behavior Analysis International's autism special interest group.

3. The reported overarching theoretical basis for ESDM is a 1985 book by the well-known psychoanalyst, Daniel Stern. Other psychoanalytic influences have been reported for the DM component of ESDM.

4. ESDM is further premised on autism being (from the manual) "at its heart a social disorder." Autistics' profound (entirely one-sided) failures in displaying proper interpersonal relationships and proper social motivation produce a cascade of purely negative effects disrupting all areas of proper development and learning.

5. The ESDM goal: autistics must become as "normal" (from the manual) as possible. Every waking hour, autistics must work towards the one ESDM-recognized proper way to relate, learn, play, develop, etc.

6. Autistics' tendency to learn in atypical ways is treated as though disordered and harmful--as evidence for our primary social deficits, which in turn deny us all the proper, typical "crucial learning experiences" (e.g., "birthday party games!"--from the ESDM manual).

7. The only proper ESDM way to learn is through typical interpersonal interaction involving proper, typical use of developmentally-proper highly-rationed highly-controlled materials which must only be regarded and manipulated by the child in the one proper socially-related ESDM manner.

8. Keeping information away from autistic children who are persistently at risk of learning from it in non-ESDM-approved ways is a theme throughout the ESDM manual. While it is claimed that ESDM does not require a therapy room, in fact there are many instructions as to how such a room should be set up. This is representative: "Ideally the room should be able to be arranged with nothing in it except a table and chairs and a closed or covered cabinet or shelves." This is called "the natural environment."

9. While a great advantage of ESDM is reported to be that it is "fun to do!" in fact the manual sternly declares, when contemplating autistics who may enjoy learning in the wrong non-ESDM way: "Our job is not to keep children happy; it is to teach them their objectives." And that very limited hierarchical range of objectives must be rigidly achieved in the one rigid proper manner and the one rigid proper order.

About the design of the ESDM RCT (DawsonG et al., 2010)

1. The trial spanned 2003-2008 and was registered more than a year after it started. Many of the reported planned measures (see SmithM et al., 2008), particularly those related to brain activity, go unmentioned in DawsonG et al. (2010).

2. Basic description: 48 autistic children within the age range of 18 to 30 months (actual range is not reported) were randomized to two groups, to recieve either a minimum of 2yrs of ESDM or of services available in the community. Children were evaluated with four main measures (Mullen, Vineland, ADOS, a scale of repetitive behaviours) and according to their diagnostic status, after about one then two years. At the two-year evaluation, children had received an average of 29 months of intervention. Children had to be at least 48 months at the 2-year evaluation; therefore children younger at intake received more intervention than children older at intake.

3. Numerous and strict, but not atypical, exclusion criteria were applied. For example, children considered to fall into the "severe" and "profound" ranges of intellectual disability were excluded, as has been done in many popularly-cited ABA controlled trials.

4. In this trial at least, the ESDM is not an intensive intervention. The authors aimed for 20hrs/wk, but achieved only 15.2 (standard deviation 1.4), which falls into the range of low intensity as currently defined.

5. Parents were expected to apply ESDM principles for an additional 5hrs/wk, but in fact reported (how accurately is unclear) more than triple this amount, indicating great enthusiasm and high expectations. ESDM parents also reported using non-ESDM services for about 5hrs/wk.

6. By the rock-bottom standards of the ambient autism literature, the ESDM trial design has many notable strengths. The intervention is manualized and attempts were made to establish treatment fidelity for the ESDM group. Currently-recognized gold-standard diagnostic instruments were used. By non-autism non-ABA standards, this is a very small trial, but it improves on an abysmal literature rife with even tinier trials. Most important, against the strong trend denying autistics even the possibility of good experimental design, this is an inexcusably rare RCT.

7. However, by very well-established standards in non-autism non-ABA areas, the ESDM RCT is in many respects poorly reported, which makes it difficult to properly asssess its design.

8. The control condition lacks virtually any useful description much less a rationale. Unspecified individuals provided the control group parents with unspecified information (what "resource manuals"? what "reading materials"?) including about unspecified services. The authors briefly trot out a few generic types of available services without indicating whether they were recommended or chosen. Children in this group received on average ~9hrs/wk of unspecified individual therapy plus the same of unspecified group-level therapy. Only mean intensities are reported--no SDs much less ranges. We don't know whether some children received huge amounts of intervention while others received none.

9. In my view, the authors' documented astonishing lack of interest in their own control group speaks to the very human expectations and biases applied to this group, which would be unlikely not to affect their outcomes.

10. Crucial information about who or what generated the randomization sequence, and whether or how allocation was concealed, is missing.

11. Remarkably, 51 autistic children were originally randomized to the two groups. Three disappear off to the side somehow, no explanation given, after random assigment to groups but without showing up in either group. Two assigned to the ESDM group rejected this intervention due to its requirements. The third, of unreported group assignment, was found to be not autistic, but Rett's. But none of these randomly allocated children shows up in their assigned group.

12. Even with the 48 children deemed to be assigned to a group, there is no intention to treat analysis. Data were ultimately lost from 3 children in the control group, no reason given.

13. The pre-post use of the ADOS as a scale of "severity" raises numerous questions. The first preliminary attempt at creating such a scale was not accepted for publication until the end of 2008 (and not epublished until 2009). This scale is further based on the revised ADOS algorithm, which is not cited by DawsonG et al. (2010) and was not accepted for publication until mid-2006.

14. Blinding is notoriously difficult in these kinds of trials. Parents cannot be blinded to intervention group, but some measures rely on parent report. While evaluators are described as "naive to invervention status," they are not described as blind to the nature and purpose of the study or of ESDM. Those involved in providing ESDM would in addition be aware of the study's purpose, importance, and outcome measures.

About the reported results of the ESDM RCT (DawsonG et al., 2010)

1. The ESDM manual provides results claimed to be from DawsonG et al. (2010), which is referred to both as "in press" and as a published 2010 Pediatrics paper. Inexplicably, information and data in the manual reported as being from DawsonG et al. (2010) differs somewhat from what is reported in the paper. There are also contradictions about the RCT within the ESDM manual regarding, for example, number of children in the ESDM group and intensity of the intervention they received.

2. There is an obvious error in the data in DawsonG et al. (2010). I spotted it immediately on first reading, as should anyone--you don't need to be able to do math in your head--who actually looks at the data. For two of the Vineland subscales (daily living and motor skills), some data are apparently reversed from Table 1 to Table 2, such that data in one table does not correspond to data in the other. The persistence of such an obvious error through copy-editing and so on raises questions about whether there are less obvious errors.

3. The main result is in the Mullen composite. On this score, the ESDM group finished at ~79, representing an ~18 point change from baseline but almost no change from the first year score of ~76. There is a just-significant 11-point change score advantage for the ESDM group over their controls at the two-year evaluation, an advantage which diminished from first to second year evaluations. The Mullen ESDM advantage is concentrated in the expressive and receptive language subscales.

4. Most striking re the Mullen composite is the huge increase in the scatter of ESDM scores. First and second year SDs are ~23 and ~24, much higher than baseline (SD ~9) and much higher than in the control group. Regardless, ranges of scores are not provided. But clearly one effect of ESDM is to dramatically increase variability of outcomes at a very young age. The ~11-point year two ESDM group advantage is drowned in their ~24-point SD.

5. While the ESDM group outperformed their controls on the Vineland composite, this results from the control condition reducing Vineland scores. These scores depend on unblinded parent report, which would plausibly reflect the disinterest and low expectations, obvious in how this study is reported, conveyed and applied to the control group. The ESDM group, regardless of their important advantages in this respect, did not experience any improvement in their Vineland scores over two years.

6. In addition, the ESDM group's Vineland scores show a huge increase in scatter, not found in the controls, by year two. The SD balloons from ~6 to ~16 (and from ~8 to ~22 in the communication sub-scale). Again, the ESDM's effect is to greatly increase variability in outcomes.

7. The authors dedicate a lot of space to claims of group differences in subjectively-determined diagnostic status. Those changes were limited to moves between autism and PDD-NOS--none of the children were judged nonautistic. However, on the ADOS, the only reported quantitative measure which offers the possibility of differentiating PDD-NOS from autism, the groups did not differ in outcome. Also, diagnosis was remarkably stable in this study, compared to previous findings regarding children in the 30-month-or-younger age range.

8. Apart from not differing on ultimate ADOS "severity" scores, the groups did not differ on a repetitive behaviours scale. The ESDM did not make autistic children measurably "less severely autistic" by the usual standards.

9. The premise of ESDM is that only through displaying proper typical social interaction and behaviour can autistics begin to learn anything worth learning. In the two reported measures of social abilities (ADOS, Vineland socialization), the ESDM children did not do any better than their controls at either evaluation. They did not improve (by the usual standards) pre-post, with losses in Vineland socialization.

10. The ubiquitous claim that "earlier is better" accompanying the publicity for this study is unjustified. The authors made no attempt to correlate outcomes with their 12-month possible age-range at intake. To the contrary, the authors enacted the view that younger children at intake must receive more intervention in order to be judged alongside children who were older at intake--the contrary position to "earlier is better."

11. The ESDM can only be used up to 60 months, with objectives targeted at children up to 48 months. At the end of this RCT, the ESDM children had a possible age range (actual range not reported) from 48 to 54 months. All were still autistic or PDD-NOS. Given the enormous increase in scatter of Mullen and Vineland scores, some had done extremely poorly by the usual standards. Against the unfounded claims of "earlier is better," questions arise as to how being so judged at such a young age within a highly publicized intervention will affect these children.

12. In reporting the ESDM RCT, the ESDM manual states that "ESDM needs to be independently replicated before it can be considered an empirically supported treatment." But a recent paper whose senior author is Sally Rogers claims that ESDM is "evidence-based" and that its components are "empirically supported."

A few last comments

Eric Fombonne has published a Pediatrics eLetter about the ESDM RCT. He concurs with some points I make, not with others, and he failed to spot the error in the data.

If you rummage around in the ClinicalTrials.gov site you will find an in-progress multi-site RCT of the ESDM where intake age range has been dropped to 12 to 24 months. You will also find a multi-site RCT, targeting 5-12 month old children considered "at risk" for autism, which will likely use ESDM-type intervention in an effort to prevent autism.

As a large body of work, the ESDM manual, RCT, and other related materials, including the formal and informal work of Geraldine Dawson and Sally Rogers, read like a total condemnation of what I've done in the above. I'm not supposed to notice details and errors, contradictions and anomalies--or if I inappropriately do, I should forget about them and concentrate on emitting socially-appropriate responses (pick up the blocks, bang them together, put them down--don't look at them). I'm not supposed to notice other discrepancies, for instance between recognized scientific and ethical standards and those imposed on autistics. I'm supposed to direct all my effort towards the developmentally-appropriate equivalent of "birthday party games!"

The above should be verifiable, through reading the supplied sources. As usual, if I've made any factual errors, always a possibility, please let me know.


References:

Dawson, G., Rogers, S., Munson, J., Smith, M., Winter, J., Greenson, J., Donaldson, A., & Varley, J. (2009). Randomized, Controlled Trial of an Intervention for Toddlers With Autism: The Early Start Denver Model PEDIATRICS, 125 (1) DOI: 10.1542/peds.2009-0958

Rogers, S.J., & Dawson, G. (2010). Early Start Denver Model for Young Children with Autism. New York, NY: Guilford Press.

Smith, M., Rogers, S., & Dawson, G. (2008). The Early Start Denver Model: a comprehensive early intervention approach for toddlers with autism. In: Handleman J.S., Harris S.L., eds., Preschool Education Programs for Children With Autism, 3rd ed. Austin, TX: Pro-Ed, pp. 65–101.

1 in 86: the prevalence of autism among adults

"Autism rate in children has doubled, say doctors" ... "Autism 'more common than thought'" ... "Autism in children '10 times higher' than first thought" ... "Autism at a record high" ... "autism is 25 times more common than what researchers thought"...

This mess of headlines and claims was generated in response to one autism prevalence study, Baird et al. (2006), published in the Lancet.

All 56,946 individuals comprising the targeted population cohort in this study are, as of today, the last day in the decade, 18 years of age or older. They were born between July 1, 1990 and Dec 31, 1991 and they are now all adults.

Within this cohort, Baird et al. (2006) reported an autistic spectrum prevalence of ~116/10,000. That's 1 in 86, and all these autistics, originally assessed as such when 9 to 14yrs old, are now adults.

For those to whom this is a matter of pressing importance, Asperger's contributed exactly nothing to that prevalence figure. So none of those 1 in 86 assessed-as-autistic now-adults are, at least according to Baird et al. (2006), Asperger's.

I've previously rattled on about Baird et al. (2006), one of the most important autism epidemiological studies to be published to date, and one of the most misrepresented. The authors found that small differences in case definition produced prevalence figures ranging from ~25/10,000 (1 in 400) to ~116/10,000 (1 in 86), a 4.6-fold discrepancy--within the same cohort at the same time, using the same diagnostic criteria, diagnostic team, and "gold standard" diagnostic instruments.

In the context of an earlier closely related prevalence study (Baird et al., 2000), the authors additionally found that a change in case ascertainment method doubled autistic spectrum prevalence within very nearly the same cohort, even when diagnostic standards were equivalent.

But such provocative and crucial findings, and others similar, were lost in the predictably incoherent uproar (see representative headlines and quotes, above) over that one figure--the 1 in 86 who as of today are all adults. I suggest that if Baird et al. (2006) had been conducted in exactly the same manner with a cohort born five years earlier, the findings would not be much different. Or ten years earlier, or more, were that possible. Of course that's a wild guess, but not an entirely unfounded one.

Earlier this year, a small innovative UK study reported a prevalence of about 1 in 100 for autistics aged 16 and up--for autistic adults right up to and over age 75. There are only bad reasons for why this small study of autistic adults is unique and unprecedented.

The world would look very different now, for both autistics and nonautistics, if over the past decade or more there had been a rational discourse about autism prevalence in which the existence of older autistics was not automatically denied.


References:

Baird, G., Charman, T., Baron-Cohen, S., Cox, A., Swettenham, J., Wheelwright, S., & Drew, A. (2000). A screening instrument for autism at 18 months of age: a 6-year follow-up study. Journal of the American Academy of Child and Adolescent Psychiatry, 39, 694-702.

BAIRD, G., SIMONOFF, E., PICKLES, A., CHANDLER, S., LOUCAS, T., MELDRUM, D., & CHARMAN, T. (2006). Prevalence of disorders of the autism spectrum in a population cohort of children in South Thames: the Special Needs and Autism Project (SNAP) The Lancet, 368 (9531), 210-215 DOI: 10.1016/S0140-6736(06)69041-7

Autistic people are persons: An anniversary

The statement that "autistic people are persons" is part of the 2008 decision by the Canadian Human Rights Tribunal in Dawson vs Canada Post Corporation. Today, this decision is one year old. Here is the relevant excerpt:

[133] This said, there is no doubt for the Tribunal that autistic people are persons, that unfortunately they are not well accepted in society, that they are looked at often times as special creatures who are not part of society as a whole and that society would be better off without them. The Tribunal is further of the view that autistic people need to be better respected and protected in society. They need above all to be better understood and accepted. [...]

[134] Hence, the Tribunal is of the view that the Canadian Human Rights Act provides to autistic people the same protection as to non autistic people and that both are equal before and under the law.

These statements are contrary to existing Canadian jurisprudence. In ABA-related litigation, autism advocates have used Canada's major human rights laws, including our highest law, the Charter of Rights and Freedoms, to deny the humanity, personhood, equality and human rights of most autistics in Canada.

This wholesale denial and dehumanization is exemplified in the Auton and Wynberg trial decisions. These two decisions have been universally revered and promoted by autism advocates, as representing what autistics deserve.

Autism advocates also universally opposed my intervention in Auton, which sought to inform the Supreme Court of Canada that, contrary to the positions of both sides, autistics are human beings with human rights, and this status should not be denied to most autistics in Canada.

By "most autistics," I mean those of us, the majority of autistics in Canada, who have not received unlimited ABA-based interventions starting early in life.

To my knowledge, the CHRT decision in my case is unprecedented in Canada, in recognizing the personhood, humanity, equality, and human rights of autistics--regardless of which interventions we have or have not received at any point in our lives. More about the CHRT decision, including its serious problems, can be found here, and some background is here.

The CHRT decision was not appealed by Canada Post. It has also been cited in another case, this time decided in Federal Court, involving an autistic and Canada Post. Here is an example of how my case was cited, from paragraph 79:

The Dawson case above, specifically is critical of rigid corporate rules that preclude true inclusiveness of those with disabilities such as the applicants.

The decision in my case was helpful in giving another autistic person the chance to pursue, if she wishes, a human rights case based on Canada Post's decision not to hire her. And the Federal Court decision in turn includes language which may further help other autistics seeking to be regarded and treated as human beings with human rights.

Autistic people are persons--happy anniversary.

An anomaly in autism intervention research

Promotion first, science later, if ever. This pattern is near universal when it comes to autism interventions. In the absence of good quality research, autism interventions are loudly claimed to be effective.

For those promoting ABA-based autism interventions, claims of effectiveness unfounded in good quality research were only the first step. The real triumph has been widespread agreement that fair tests of ABA-based interventions are unethical and bad for autistics. As a result, any experimental design carrying the risk of being informative about the benefits and harms of ABA-based interventions has, for a long time now, been considered unethical.

The practice of claiming effectiveness for an autism intervention which has not been fairly tested, then using these claims of effectiveness to deem fair tests unethical, has clear benefits to service providers. And this practice has received wall-to-wall support from autism advocates, who have in turn imposed it on autistics through lobbying and litigation.

Meanwhile, this practice is not admired outside the realm of autism advocacy. Premature claims of effectiveness in themselves make fair tests of interventions more difficult--particularly, as is the case with many autism interventions, when blinding cannot be fully achieved. But those promoting ABA-based autism interventions go further and demand that autistics be entirely denied the benefit and protection of good experimental design.

In my view, this practice--its longstanding and widespread support by autism advocates, its more recent support by ASAN (example here), and its widespread imposition on autistics--continues to greatly harm autistics. Any group so denied such basic standards of science and ethics would be harmed.

Interestingly, not all autism researchers have stooped to prevailing autism advocacy standards.

Some years ago, a pilot RCT of an early autism intervention was published (Aldred et al., 2004). The intervention was manualized, of relatively low intensity, and targeted solely at the parents of preschool autistic children. Through a true experimental design, the intervention was found to have several significant positive effects, most markedly in increasing the expressive language of very young autistic children.

Successful RCTs of early autism interventions are virtually non-existent. But the researchers involved in Aldred et al. (2004) totally failed to go forth and proclaim the effectiveness of their manualized intervention. After all, they only had a small pilot RCT--the same size as the only published RCT, not a notably successful one (Smith et al., 2000, 2001), in the entire 48-year history of research into ABA-based autism interventions.

Instead of issuing premature claims of effectiveness, the authors of Aldred et al. (2004) and many other collaborating UK researchers went on to conduct a large multi-site RCT, the Preschool Autism Communication Trial. They received MRC funding for this 4-year project in 2005.

Some information about the PACT's design has been reported in a recent paper (Aldred & Green, 2009).

The trial began in early 2006 and will finish late this year. The researchers hoped to recruit 144 preschool autistic children across three sites, but exceeded their expectations and recruited 152. These children were randomized into two arms, one receiving the PACT intervention, while children in both arms continued to receive whatever other interventions their parents chose ("treatment as usual").

So far as I know, the PACT is larger than any existing published RCT in the history of autism research. The PACT's design means that it carries a good risk of being informative about the effectiveness of the studied intervention. There is no good reason for the PACT to be unprecedented, but it is.

In one of the PACT's recent newsletters, the PACT's Chief Investigator, Jonathan Green, notes that there has been a lot of interest in the PACT manual and in "training opportunities" with respect to this intervention. Dr Green responds:

Until we have the results of the trial we are not able to disseminate the intervention manual or to undertake any training; but be assured that after the results are in (and depending of course on the outcome in terms of effectiveness!) we do have potential plans in place for such dissemination.

In other words, and keeping in mind there is a successful published pilot RCT, there are no plans to disseminate information about the intervention--not until there is good quality evidence as to its effectiveness. This is the recognized scientific standard in non-autism areas.

Aldred et al. (2004) and the PACT shouldn't in any way be above scrutiny or criticism. For example, I can see problems in how Aldred et al. (2004) was designed (I mention one of them here), which may or may not be carried over to the PACT. But the pilot RCT and the resulting PACT generally demonstrate the only science- and ethics-based sequence when it comes to interventions and treatments: good quality research first, then think about spreading the word.


References:

Aldred, C.R., & Green, J. (2009). Early social communication
interventions for autism British Journal of Hospital Medicine, 70 (3), 143-145

Aldred, C., Green, J., & Adams, C. (2004). A new social communication intervention for children with autism: pilot randomised controlled treatment study suggesting effectiveness Journal of Child Psychology and Psychiatry, 45 (8), 1420-1430 DOI: 10.1111/j.1469-7610.2004.00338.x

Smith, T., Groen, A.D., and Wynn, J.W. (2000, 2001). Randomized trial of intensive early intervention for children with pervasive developmental disorder. American Journal on Mental Retardation, 105, 269-85. Erratum in American Journal on Mental Retardation, 105, 508. Erratum in American Journal on Mental Retardation, 106, 208.


Addendum: This post is included in the 116th Meeting of the Skeptics' Circle hosted by Beyond the Short Coat.

Alan Turing's brilliant essay

In 1950, Alan Turing wrote "Computing Machinery and Intelligence." This one short paper, exploring what came to be called the Turing test, continues to influence research and thinking across multiple fields.

Tyler Cowen and I have co-authored a new paper asking two questions. What does the Turing test really mean? And how many human beings (including Turing) could pass? Our premise is that some aspects of Turing's paper have not received sufficient attention:

Turing’s paper is rich and multi-faceted and we are not seeking to overturn all of the extant interpretations. We do wish to suggest that a potent and indeed subversive perspective in the paper has been underemphasized. Some of the message of Turing’s paper is encouraging us to take a broader perspective on intelligence and some of his points are ethical in nature. Turing’s paper is about the possibility of unusual forms of intelligence, our inability to recognize those intelligences, and the limitations of indistinguishability as a standard for defining intelligence. “Inability to imitate does not rule out intelligence” is an alternative way of reading many parts of his argument. Turing was issuing the warning that we should not dismiss or persecute entities which we cannot easily categorize or understand.

The facts of Turing's life enter into our argument, as does autism in many respects. Here is what we conclude:

It is possible that Turing conceived of his imitation test precisely because he had so much difficulty “passing” and communicating himself. In social settings these facts were seen as disabilities but in the longer term they helped Turing produce this brilliant essay.

Tyler Cowen is a professor of economics at George Mason University. His page is here. He blogs at Marginal Revolution; his post about our paper is here.

Definitely not autism advocacy: Accomplishments, capabilities, and rights

As an advocate for the rights of physically and mentally disabled people, I am acutely aware of how many people in our society consider the disabled to be childlike, helpless, hopeless, nonfunctioning and noncontributing members of society.

This opens a NYT opinion piece written by Evan Kemp. While Mr Kemp raises concerns about a specific fundraising event, his statements have much broader relevance.

For instance, Mr Kemp writes of the great harm that ensues when disabled children are denied the possibility of learning from successful disabled adults. The autism advocacy signature argument that disabled adults with achievements cannot really be disabled is not directly mentioned. But this is just another way to deny that successful disabled adults exist and it carries the same consequences.

Mr Kemp also notes how portraying disability as "overwhelmingly destructive" results in fear of disabled people and our consequent segregation from society. Then there is the issue of research priorities, some of which have the effect of supporting:

the damaging and common prejudice that handicapped people are "sick." As sick people, it follows that we should allow others to take care of all our needs until a cure is found.

Throughout his piece, Mr Kemp emphasizes that regarding disabled people as frightening and pathetic infantilizes us and leads us towards segregation, hopelessness, and dependence, to the great detriment of ourselves and others. Mr Kemp concludes with many recommendations, including:

Problems of economic waste, demoralization and segregation can be solved only when disabled people are depicted in the light of our very real accomplishments, capabilities and rights.

Mr Kemp's opinion piece was published almost three decades ago, in 1981. You can find it here. Autism advocacy continues to run in the opposite direction, rejecting and rolling back what we have learned about disability and human rights, going backwards in time to before Mr Kemp ever said a word.

Evan J. Kemp Jr. died in 1997. You can read his obituary here.

The highest autism prevalence ever?

Baron-Cohen et al. (2009) propose a world where there are 157/10,000 autistics. The authors used what they call a "novel approach" to autism epidemiology and this is worth a closer look.

The study is based on questions sent to schools about the UK SEN (Special Education Needs) register, and a survey, including a screening questionaire, sent to parents of students aged 5 to 9 years. Many schools, 66 out of 162, refused to participate. Of schools that agreed, 79 of 96, representing 8824 out of 11,635 children, provided SEN register information. Of the surveys sent to parents, 29%, representing 3373 out of 11,700 children, were responded to.

Participating schools located 83 children identified as autistic spectrum according to the SEN register. Of these, 10 children were assigned the specific diagnosis of autism (I'll call them "specific-autism"), while the rest were assigned other autistic spectrum diagnoses ("other-spectrum"). None of these diagnoses was verified by Baron-Cohen et al. (2009) in any way. These 83 SEN children constitute 94/10,000 of the proposed 157/10,000.

In the survey, parents were asked whether their child had an existing autistic spectrum diagnosis. The authors "confirmed," to their standards, through information from parents only, diagnoses for 19 children. Four others attended special schools and were assumed to be "confirmed" as autistic without any verification, for a total of 23. No information about how many of these children are specific-autism or other-spectrum is given. The 23 children were expanded into a prevalence of 99/10,000--impressively close to the SEN register figure.

The screening questionaire sent to parents was the recently re-named CAST (Childhood Autism Spectrum Test). All children reported by parents as scoring above one CAST threshold, and a minority of children scoring above a lower CAST threshold, and who were not already reported by the parent survey to be autistic, were invited for assessment. Eventually 77 children underwent assessment by ADOS, ADI-R, and clinical judgment. Eleven children were given autistic spectrum diagnoses--four specific-autism, seven other-spectrum.

So there are three sets of autistic children here: 83 SEN children, 23 diagnosis survey children, and 11 CAST children. The CAST children are considered to represent "unknown" or "undetected" autistics in schools, while the other two sets of children (SEN and diagnosis) represent equivalent samples of "known" autistics who have been located in two different ways from very nearly the same cohort.

Working from the diagnosis and CAST samples, Baron-Cohen et al. (2009) come up with a ratio of total number of cases (known plus unknown) to known cases, which yields a multiplier of 1.67. This in turn is applied to the SEN-based prevalence of 94/10,000, resulting in that grand total of 157/10,000.

And this all looks quite reasonable. Even the Neuroskeptic thinks so. But here are a few things I noticed.

The authors report no means of verifying whether the SEN and diagnosis samples are equivalent, an assumption on which the study depends. There is a dearth of demographic information, including the absence of any reported demographic measure common to both the SEN and diagnosis samples.

And for neither "known" sample (SEN and diagnosis) were any of the diagnoses verified either through direct assessment or direct access to records. Other recently reported UK epidemiology has not arrived at such a tidy agreement between prevalence of existing autism diagnoses and prevalence of autistics on the SEN register, nor at such a high prevalence using information from one or both sources.

Before they started sending out surveys, Baird et al. (2006) found that about 15% of 255 autistics with a "known" autism diagnosis (according to various health and clinical records) were not on the SEN register--under any diagnosis at all. This percentage would likely be higher if SEN autistic spectrum diagnoses only were considered.

Whether the 255 "known," pre-survey diagnoses from Baird et al. (2006) would be considered "confirmed" according to the standards of Baron-Cohen et al. (2009) is unclear to me, but in Baird et al. (2006), they add up to a prevalence of ~45/10,000. This is less than half the prevalence of what should be the comparable "known" diagnosis sample in Baron-Cohen et al. (2009).

Then there is Williams et al. (2008), where the authors had access to both medical and SEN records for an entire 14,062-child cohort. Using both kinds of records, they located a total of 86 "known" autistics for a prevalence of ~62/10,000. Of these, 36% were found in medical records only; 17% were found in SEN records only; and 47% were found in both.

Here again the "known" diagnosis total prevalence, derived from direct examination of complete records rather than selective responding to questions directed at schools or parents, is a much lower figure than found via both the SEN and diagnosis samples in Baron-Cohen et al. (2009). And Williams et al. (2008) show that diagnoses appearing in medical records, and diagnoses recorded via SEN, do not produce the same samples of autistic children--at least, not when there is direct access to these records for a complete cohort.

The original contribution of Baron-Cohen et al. (2009) is, according to the authors, the attempt to identify school-aged autistics who haven't been spotted as atypical. This is claimed to set their study apart from Baird et al. (2006). But 8 of the 77 children chosen for direct assessment through CAST screening in Baron-Cohen et al. (2009) were reported to be from "special schools" which, according to the authors, "require extensive assessment of individual special needs." Yet the authors suggest the CAST-screened sample was, in their words,

...quiet and cooperative at school and not difficult to manage and therefore teachers may not be aware that they have difficulties.

I don't know whether the CAST-screened special school children (who may or may not have been in the final 11) were on the SEN register, but doesn't this seem likely? Assuming for now (because you can only assume) that this was not under an autism diagnosis, in fact these were exactly the children screened for autism by Baird et al. (2006)--all children on the SEN register for any reason.

Further in this direction, Baron-Cohen et al. (2009) surprisingly report no way for the authors to verify whether the CAST-screened children were or were not on the SEN register, under any diagnosis--including autism. But the study hinges on the two samples, the SEN and CAST samples, being independent from each other.

One more thing to note is the actual composition of the 157/10,000. These numbers come from the reported data. Here goes:

11/10,000: "known" specific-autism children (SEN register)
23/10,000: "unknown" specific-autism children (CAST screening)
83/10,000: "known" other-spectrum children (SEN register)
40/10,000: "unknown" other-spectrum children (CAST screening)

If you add up the figures, you get the 157/10,000 total, of which 34/10,000--well within the range of previous findings--represents prevalence for the specific diagnosis of autism. The authors checked ratios of known to unknown autistic males vs females, and found no difference, showing that female autistics were not more likely than male autistics to be undetected. But the authors didn't check ratios of known to unknown autistics for specific-autism vs other-spectrum diagnoses.

If they did, they would find that for every known specific-autism child, there are about two unknown. The opposite is true for other-spectrum children, where about two are known for every unknown child. While only one-third of all specific-autism children are known, two thirds of other-spectrum children are known. Does this mean that children who meet criteria for the specific diagnosis of autism are much harder to spot, or are doing much better in school, than children who are popularly regarded as having "less severe" autistic spectrum diagnoses?

Or maybe the data are just very difficult to interpret. As usual, if I've made any factual errors, please let me know.


References:

Baird, G., Simonoff, E., Pickles, A., Chandler, S., Loucas, T., Meldrum, D., & Charman, T. (2006). Prevalence of disorders of the autism spectrum in a population cohort of children in South Thames: the Special Needs and Autism Project (SNAP). Lancet, 368, 210-215.

Baron-Cohen, S., Scott, F., Allison, C., Williams, J., Bolton, P., Matthews, F., & Brayne, C. (2009). Prevalence of autism-spectrum conditions: UK school-based population study The British Journal of Psychiatry, 194 (6), 500-509 DOI: 10.1192/bjp.bp.108.059345

Williams, E., Thomas, K., Sidebotham, H., & Emond, A. (2008). Prevalence and characteristics of autistic spectrum disorders in the ALSPAC cohort Developmental Medicine & Child Neurology, 50 (9), 672-677 DOI: 10.1111/j.1469-8749.2008.03042.x

Notes on autism severity and the DSM-V

I was asked briefly to comment on the notion of "severity" of autism as currently proposed for the DSM-V. Here are some far from complete notes (some from earlier writing or work of mine) I organized in response:


Currently, “severity” of autism most often refers to the attempt to quantify the obviousness of autistic traits and abilities. The more obvious these traits and abilities are judged to be, and therefore the more atypical a person is judged to be, the more “severe” autism is considered to be.

Being “more severe” (having more obvious autistic traits and abilities, or being more obviously atypical) is widely presumed to be worse than being “less severe” (having less obvious autistic traits and abilities or being less obviously atypical), while being not autistic at all (no obvious autistic traits and abilities) is considered an “optimal outcome.”

However, there is no current consensus on what neurocognitive differences underlie observable autistic atypicalities and therefore fundamentally define what makes a person autistic rather than nonautistic. At this fundamental level (what autism is), there is currently no consensual way to judge who is “more autistic” or “less autistic” (which would be construed as “more severely autistic” and “less severely autistic”) or whether this would be good, bad or irrelevant.

Currently there is/are no consensual instrument(s) agreed to measure autism “severity.” The major diagnostic instruments (ADOS, ADI-R) do not work like scales, though they have often and misleadingly been misapplied this way. A recent preliminary attempt to transform the ADOS into a scale of “severity” has just been published (Gotham et al., 2009).

On popular measures of “severity” (the CARS, the ADI-R improperly used as a scale, the SRS), an autistic who has one or more very high apparent abilities (that is, has a highly uneven profile of apparent abilities) will score as more "severe" than an autistic whose apparent abilities are uniformly low.

The large proportion of autistics recently reported to have exceptional skills (Howlin et al., 2009) would be judged as less “severe” if they lost those skills. Exceptional skills are considered to increase “severity” (that is, atypicality) in autism, not decrease it. This would also likely be true of autistic cognitive strengths which have been revealed in the peer-reviewed literature in comparisons between the performance of autistics and nonautistics on a wide range of tasks (I have started compiling an inventory of these, which was the subject of an IMFAR 2009 poster). Indeed, at IMFAR 2009, the loss of exceptional autistic abilities (Eigsti et al., 2009; from Deborah Fein’s group) was reported as evidence for “optimal outcomes” in autism.

In the same direction, we have found that autistics who scored higher on pieces of the ADI-R (and would therefore commonly be assumed to be "more severe") had a wide range of better visual skills than autistics who scored lower on these measures (Caron et al., 2006).

Perhaps unsurprisingly then, autism “severity” (defined and measured in various ways) has been a poor predictor of outcomes in autism (Howlin, 2005). Here are two examples from papers reporting very good outcomes in autism:

It cannot be emphasized strongly enough that… it would have been impossible for anyone to predict this outcome. (Kanner et al., 1972)

… early history explained little of the variance in outcome. Indeed, the good and poor outcome groups differed little with respect to early impairments in social responsiveness, deviant language, and bizarre behaviors. (Szatmari et al.,1989)

Currently the best adult outcomes reported in the literature still belong to autistics who as children met the narrowest, strictest, and presumed-to-be most “severe” autism diagnostic criteria ever devised (Kanner et al., 1972; Szatmari et al., 1989; Farley et al., 2009). Asperger (1944/1991) described an individual whose outcome was outstanding (he was a successful academic) as “grossly autistic” with “impossible behavior,” etc.

Some of the most obvious (that is, most “severe”) and successful autistics have been and continue to be individuals regarded as autistic savants. Indeed, the “obviousness” of these individuals, the fact that their atypicalities are so obvious (which would be judged as so “severe”), has been successfully exploited in the autism literature as a means of investigating the fundamental atypicalities which make autistics autistic.

The assumption that having more obvious autistic traits and abilities is bad (“more severe”) has resulted in prejudicial judgments in the literature. An autistic boy (who has accomplished more as a child and young adult than most people, autistic or otherwise) with a full-scale IQ of more than 100 and a strong performance on numerous tests is judged to be “low-functioning,” because he is so obviously atypical. That is, he is judged to be very “severely” autistic (Bonneh et al., 2008; Belmonte et al., 2009), and this must solely be a very bad thing. In Aldred et al. (2004), preschool autistic children are falsely judged to be “low-functioning” or “high-functioning” solely on the basis of presumed autism “severity” falsely drawn from ADOS scores. It is being falsely and prejudicially assumed that an autistic whose traits and abilities are more obvious must function poorly.

The proposed DSM-V changes will enhance societal prejudices against autistic traits and abilities. These prejudices already serve to prevent autistics whose traits and abilities are more obvious from being considered able to learn, to communicate, to make decisions about our lives, to walk around freely, to be employed, etc. Under the proposed DSM-V changes, autistics who are highly and obviously atypical would be even more harshly judged, without there being anything approaching a sufficient empirical rationale for this. Autistics whose communication and social interaction is highly atypical, or who most strongly pursue their focused abilities and interests (something which has widely been acknowledged leads to good outcomes, but has largely not interested researchers; Howlin, 2005), will now be at risk of being regarded as “most severe.” This is at a time when the term “severe autism” is popularly equated with low expectations, hopelessness, dread and horror.

Also, in my experience, the term “severe autism” is commonly used as a justification for why autistic people not only can but must be treated in ways that would be instantly recognized as unacceptable in any other population. This includes lowering or discarding very basic standards of science and ethics, a pervasive practice now applied to the entire autistic population. I am referring to the basic standards of science and ethics that automatically protect and benefit nonautistics, and without which they could not proceed safely in society, much less have good outcomes.

The proposed DSM-V wording raises numerous specific concerns; I will mention two. One is that it enshrines the false and harmful assumption, an assumption showing a striking absence of reciprocity on the part of the DSM-V committee, that if autistics communicate or interact in atypical and possibly very adaptive ways, then this communication or interaction must be defective or wrong, or must not exist at all. Another concern is that by using words such as “rituals,” the DSM-V is perpetuating the misconstrual of autistics’ focused abilities and interests (and motor mannerisms). This misconstrual led to the demonstrably false and harmful assumption that autistics’ atypicalities in this area amount to “obsessions” and must be treatable in the same manner as OCD (see recent failed citalopram RCT, King et al., 2009; a failed fluoxetine RCT has been announced by Neuropharm and Autism Speaks, but not published yet).

In these and other ways the proposed DSM-V autism criteria define possibly very adaptive but atypical autistic traits and abilities as being more “severe” (worse or more defective) the more they are obvious. This leads to the assumption that such traits and abilities should ideally be suppressed and eliminated.


References:

Aldred, C., Green, J., & Adams, C. (2004). A new social communication intervention for children with autism: pilot randomised controlled treatment study suggesting effectiveness. Journal of Child Psychology and Psychiatry, 45, 1420-1430.

Asperger, H. (1944/1991). 'Autistic psychopathology' in childhood (Frith, U., Trans.). In: Frith, U. (Ed.), Autism and Asperger Syndrome. Cambridge University Press, Cambridge, UK, pp. 37-92.

Belmonte, M.K., Bonneh, Y.S., Adini, Y., Iversen. P.E., Akshoomoff, N.A., Kenet, T., Moore, C.I., Simon, H.J., Houde, J.F., & Merzenich, M.M. (2009). Autism overflows with syntheses. Neuropsychology Review, 19, 273-4.

Bonneh, Y.S., Belmonte, M.K., Pei, F., Iversen, P.E., Kenet, T., Akshoomoff, N., Adini, Y., Simon, H.J., Moore, C.I., Houde, J.F., & Merzenich, M.M. (2008). Cross-modal extinction in a boy with severely autistic behaviour and high verbal intelligence. Cognitive Neuropsychology, 25, 635-52.

Caron, M.-J., Mottron, L., Berthiaume, C., & Dawson, M. (2006). Cognitive mechanisms, specificity and neural underpinnings of visuo-spatial peaks in autism. Brain, 129, 1789-802.

Farley, M.A., McMahon, W.M., Fombonne, E., Jenson, W.R., Miller, J., Gardner, M., Block, H., Pingree, C.B., Ritvo, E.R., Ritvo, R.A., & Coon, H. (2009). Twenty-year outcome for individuals with autism and average or near-average cognitive abilities. Autism Research, 2, 109-118.

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The autistic way of laughing

There are real and fake smiles that can be distinguished visually, if you know how, and it turns out that there are real and fake laughs. William Hudenko, a clinician and researcher, patiently explained this to me at IMFAR 2009. Real laughs are "voiced" versus fake laughs that are "unvoiced" and these two kinds of laughs can be distinguished acoustically.

Hudenko et al. (in press) describe voiced laughs as having a "tonal, song-like quality" and as "strongly associated with positive affect," while unvoiced laughs are "largely atonal and noisier." Instead of reflecting a person's genuine emotions, unvoiced laughs are hypothesized to reflect various social signals.

When nonautistics laugh, about half the time their laughs are unvoiced. So how do autistics laugh?

Hudenko and his colleagues collected a lot of laughs from autistic children and two groups of nonautistic children (matched on chronological age, and matched according to vocabulary test age equivalents). Laughs were elicited in a 10-minute "laugh assessment sequence" in which "an examiner playfully interacted with each child."

The results? Autistics laughed just as much as nonautistics. The sole difference between autistic and nonautistic laughs was in proportion of voiced laughs. While on average, 97% of autistic children's "laugh episodes" were voiced, only 63% and 47% (age-equivalent and chronological age groups respectively) of nonautistic children's laughs were voiced. And about half the autistic children produced only voiced laughs.

You can find some autistic and nonautistic laughs here.

In their discussion, Hudenko et al. put forward this view:

...children with autism routinely produce fewer types of laughs than typically developing children because their laughter is more closely linked to their internal experience of positive affect.

If this is so, then the autistic children in this study expressed more positive emotion--more genuine happy affect--in interacting with another person than did the nonautistic children. Hudenko et al. also refer to an earlier study which found, in the typical population, more positive responses to voiced versus unvoiced laughter. Nonautistics prefer voiced laughter.

Given prevailing standards in the autism literature (arising from prevalent standards of autism advocacy), no one should be surprised at how Hudenko et al. interpret their findings. The authors imply, in the absence of any evidence in this direction, that all this happy, genuine, engaging autistic laughter is unlikely to be socially "appropriate." Unfortunately, according to the authors, autistics "are not using laughter in a socially subtle manner." And here is the paper's unfounded concluding sentence:

In fact, by using laughter in a less social manner it may be that this expressive pattern actually contributes to the social deficits exhibited by children with autism instead of serving to facilitate connections with others.

But the story doesn't quite end there. I ran into Dr Hudenko at IMFAR because he and one of his colleagues had a poster (abstract is here), a follow-up of sorts. In this new and as yet unpublished study, recordings of voiced and unvoiced autistic and nonautistic laughs were played for 135 nonautistic college-aged students. The students were asked to rate their "affective response" to each laugh on a scale from strongly negative to strongly positive. In a different task, the students were asked whether each recorded laugh came from an autistic or nonautistic child.

The results? The students rated their responses to autistic laughs as being significantly more positive than their responses to nonautistic laughs. Interestingly, this held true even when voicing--whether laughs were voiced or unvoiced--was accounted for. And when asked to do so, the nonautistic students could tell autistic and nonautistic laughs apart. The students performed above chance on this task, while only about one-fifth of them believed they could make this distinction.

So Hudenko et al. (in press) contend that autistics' way of laughing is defective and detrimental--a presumed contributor to autistics' presumed social deficits. This in turn implies that ideally, autistics would not have such engagingly positive, genuine and distinctive laughs, and instead should have the only "right" kind of laughter, the kind which characterizes nonautistics. But according to Dr Hudenko's IMFAR follow-up study, "improving" autistics this way would result in their laughter being less preferable to nonautistics than is currently the case.


Reference:

Hudenko, W., Stone, W., & Bachorowski, J. (2009). Laughter Differs in Children with Autism: An Acoustic Analysis of Laughs Produced by Children With and Without the Disorder Journal of Autism and Developmental Disorders DOI: 10.1007/s10803-009-0752-1

Addendum: This post is included in the 5th edition of Scientia Pro Publica (more information here), hosted by Pro-Science.