I have been following, and am passionate about, the positive psychology movement for quite some time, but was surprised to discover that there was something called positive neuroscience also in place. I recently came across this new scientist article about the research paper of Rex Jung et al and was pleased to discover that Jung was working on the frontier of applying latest in neuroscience research to Positive brain states and substrates like that involved in creativity.
The article is in PLOSOne, an open access journal and is lucidly written , so you should go and read it now. I’ll anyway like to summarize their study results. First a bit of background about creativity psychopathology linkage.
Some research reports positive correlations between various definitions of creativity and a diagnosis of psychopathology , , , . Other studies report that psychopathology is rarely, if ever, associated with creative insight, capacity, or productivity . When artists are studied more carefully, certain personality characteristics appear to reside upon a continuum of both normal behavior and psychopathology. For example, creative expression in the visual arts and poetry has been linked with the overlapping personality traits of schizotypy and Openness to Experience (Openness), and particularly to self-reports of “unusual experiences” and “unconventional nonconformity”, but not the “introvertive anhedonia” characteristic of schizophrenia .
This is inline with what we have been covering at mouse trap regarding association of creativity with the psychotic spectrum especially the creativity that is artistic or revolutionary in nature rather than scientific and methodical in nature. This is how the authors distinguish between types of creativity inline with my views that one type of creativity is autistic (cognitive) in nature while the other is psychotic (emotional) and these are on a continuum.
First, there does not exist one “creativity”; rather, this construct is hypothesized to reside upon a continuum between cognitive (i.e., scientific) and emotional (i.e., artistic) behavioral domains , . Thus, when comparing scientists and artists directly, researchers have found lower lifetime rates of psychopathology for: 1) scientists compared to artists, 2) natural scientists compared to social scientists, 3) nonfiction writers compared to fiction writers and poets, and 4) formal artists compared to “expressive” artists , , . These findings have led researchers to hypothesize a hierarchical structure of creativity across disciplines , which echoes the notions of “paradigmatic” (i.e., a fundamental model of events) versus “revolutionary” (i.e., rejection of doctrines) approaches as applied to the sciences . The benefits of working within the lines of a given field appear to be lower levels of psychopathology; alternately, individuals with lower levels of psychopathology may be attracted to such endeavors. Similarly, there is increasing evidence that the cost of “revolutionary” approaches to creative endeavors, whether it is in the arts or sciences, may be associated with increased levels of psychopathology although, again, causative links are weak at best.
So that fits in with broader creativity/ psychopathology linkage, but to get back to the current study the authors had already established earlier that performance on Divergent Thinking (DT) (a measure of creativity) “exhibited significant inverse relationships with both cortical thickness in frontal lobe regions and metabolite concentration of N-acetyl-aspartate (NAA) in the anterior cingulate cortex in normal young subjects “. Thus, some theoretical relationship between creativity and underlying brain circuitry in the frontal reagion was available a priori. Also, research by other researchers has already established that ” Both schizophrenic and bipolar patients have been shown to have reduced fractional anisotropy (FA) in the anterior thalamic radiation ,  and uncinate fasciculus  within frontal brain regions. Similarly, reduced FA was observed within the uncinate fasciculus of a cohort with schizotypal personality disorder, providing strong support for the hypothesis that similar neural phenotypes may not result in full-blown clinical symptoms . Finally, in normal subjects, the Neuroregulin-1 (NRG1) single nucleotide polymorphisms (SNP’s) SNP8NRG243177 and SNP8NRG221533 were found to predict lower FA in the left anterior thalamic radiation . As NRG1 has been found to predict higher risk of schizophrenia ,  and bipolar disorder , and is linked with axonal myelination and migration , these authors hypothesize a mechanistic link between NRG1 within the anterior thalamic radiation and risk for psychotic disorders .”
Thus, from the above it is easy to see that there should be a inverse relationship between Fractional Anisotropy (a construct related to myelination of axons) in the frontal regions and creativity if one assumes that creativity and psychopathology are related and are on one end of a continuum. And this inverse relationship between creativity and FA is exactly what they found:
Our results suggest a convergence between a cognitive measure of divergent thinking, a personality measure of Openness, and a white matter integrity measure within the inferior frontal lobes. We found that normal young subjects with lower levels of FA within predominantly left inferior frontal white matter (i.e., regions overlapping the uncinate fasciculus and anterior thalamic radiation) scored higher on the CCI; similarly subjects with lower levels of FA within the right frontal white matter (i.e., regions overlapping the uncinate fasciculus and anterior thalamic radiation) scored higher on self-reported measures of Openness. These two regions of white matter overlap with those reported by other researchers who found lower FA in both schizophrenia and bipolar disorder , , .
They could also nail the reduced FA to reduced myelination as radial diffusion was affected more than axial diffusion. As reduced myelination has been shown as a diatheisis for psychosis, this fits in with previous research linking risk factors common to psychosis and creativity.
Whereas more neural resources are often associated with higher intellectual capacity in a parieto-frontal network of brain regions , studies in DT appear to suggest that less is often better in a different network of brain regions, particularly fronto-cingulate-subcortical networks linked via white matter loops .
One can speculate that frontal region, more concerned with executive control , when with reduced activity or functional connectivity , may not inhibit the other brain regions that much, and may thus lead to flowering of inherent creativity and cross-talk amongst different brain regions. On the other hand too much white matter/ gray matter in this region may lead to too much control and leave little room for flexibility and creativity.
However, while lower FA is commonly seen in diseases where both cognition and white matter integrity are impaired (e.g., Traumatic Brain Injury, Schizophrenia, Alzheimer’s disease) , , , evidence is accumulating that higher FA in particular brain regions may also be associated with clinical disorders including post-traumatic stress disorder , obsessive-compulsive disorder , panic disorder , synaesthesia , and Williams syndrome .
It is interesting to note that enhanced FA is associated with clinical disorder of Williams syndrome, which is associated with Autism; on the other end of continuum, reduced FA in particular brain region is associated with psychosis proneness, thus providing another convergent linkage of autism and psychosis as opposites.
Jung, R., Grazioplene, R., Caprihan, A., Chavez, R., & Haier, R. (2010). White Matter Integrity, Creativity, and Psychopathology: Disentangling Constructs with Diffusion Tensor Imaging PLoS ONE, 5 (3) DOI: 10.1371/journal.pone.0009818
There is an article in press in Neuropsyhcologia by Lackner et al that related Dopamine (DA) levels as measured by Eye Blink Rate (EBR) to preschoolers (3-5 yrs old) Representational theory of Mind (RTM).
The authors hypothesized that as one of the neural correlates of RTM is dMPFC, and as dMPFC has dopamine receptors and is innervated by dopmainergic projections along the dopamine mesocortical pathways , hence perhaps it is the dopamine’s tonic and phasic levels that may be correlated with and have a causal role in the preschoolers’ developing RTM abilities.
3-5 years is a critical period in which the RTM abilities are developing in a normal kid and are first found to be deficient in autistic kids. another linkage the authors seem relevant, but which I don’t agree to much, is the error -prediction theory of dopamine. They believe that ToM/RTM abilities develop when one takes into account the behavior of others and finds discrepancies in ones own knowledge and why they act based on certain different assumptions and by realizing this error of prediction modifies ones understanding of others and starts attributing a mind to them. The authors believe that phasic dopamine which has error prediction functions may be affecting RTM via this pathway too; I find that not very convincing.
However, their basic premise that tonic or baseline dopamine affects RTM abilite seems to be on firm ground and they found support for this hypothesis. They did not measure DA levels directly , but instead relied on Eye Bink Rate (EBR) which is a robuts predictor of overall dopamine in the mesolimbic pathways via the caudate nucleus dopamine levels. They also did not measure EBR directly but measured it using EEG waveforms of relevant brain regions above the eyes.
The RTM tasks they used and the Response -conflict executive function (RC-EF) tasks they used are very simple and intuitive and I refer the reader to methods section to pursue them in detail. For our purpose it is sufficient to mention that RTM did not include the famous anne-sally false belief task but had other variants like false belief location task etc.
Their findings were unequivocal. They found that DA levels as gauged from EBR were a significant predictors of RTM abilities and the effect was not mediated by a possible confound- that of RTM and RC-EF linkages and correlations.
For our purposes what is most important is the direction of the effect . More DA levels were associated with better RTM ; while lower DA was associated with lower RTM performance. This is consistent with the DA relation of Schizophrenia/Autism one of which has higher DA levels and better ToM; while the other both poorer ToM and lower baseline DA. To quote:
These findings dovetail with other research connecting dopamine and representational theory of mind in autistic and schizophrenic populations. Both autism and schizophrenia have been associated with RTM impairment (Pickup, 2008; Sabbagh,2004; Savina & Beninger, 2007) and dysregulation of DA (Braver, Barch, & Cohen, 1999; Lam, Aman, & Arnold, 2006). For instance, in the case of schizophrenia there is some evidence that increased levels of frontal dopamine, as a consequence of the pharmacological activity of some atypical antipsychotics, leads to increased performance on RTM tasks (Savina & Beninger, 2007). The present study added to this body of literature by demonstrating associations between RTM and DA in typically developing children. Considered together, this further supports the hypothesis that dopaminergic functioning plays a role in RTM development.
As always, I am excited by more support for Autism and Psychosis as opposites theory and belive this further cements the case and shows possible neurochemichal mechanisms underlying the difference.
Regular readers of this blog will know my fascination with autism and psychosis as opponents on a continuum theory . I have already been privately speculating that ADHD in childhood may be a risk factor for Psychosis in later adolescence, especially as both are supposed to have underling dopamine abnormalities, so this new study by Brembs et al caught my attention.
Recently I came cross this paper by Bjorn Brembs et al that investigated attention-like processes in mutant fly models that showed memory deficits. They weer aqble to show that despite overt similar olfactory memory deficits, the attention-like processes worked in opposite ways in the two mutant models. In the rutabaga/dunce model, the atention ws hyperfocussed , resembling human autism; while in radish models , attention was flexible and distract-able resembling human ADHD.
It is increasingly apparent that many classical Drosophila learning and memory mutants are also defective in short-term processes relevant to selective attention. Previous studies have shown that short-term memory as well as long-term memory mutants display attention-like defects (van Swinderen, 2007; van Swinderen et al., 2009), and the current study reveals radish mutants to be defective as well, albeit with distinctly different symptoms. The Drosophila mutants dunce1, rutabaga2080, and radish1 share olfactory memory defects but differ conspicuously for short-term processes relevant to visual attention. Whereas the more persistent optomotor behavior of dunce1 and rutabaga2080, both affecting the cAMP-associated pathways (Davis et al., 1995), are reminiscent of the persistent preoccupation of some patients afflicted with autism, the phenotype of radish mutant flies described here is similar to some of the symptoms of patients with ADHD.
They further speculate as o why these two phenotypes may be present and relate it to exploit/explore conundrum.
Attaining the right balance between persistence and flexibility is a crucial feature of adaptive behavior, because it reflects the balance between exploration and exploitation of natural resources. It is tempting to speculate that radish and dunce/rutabaga may constitute the two respective extremes of this balance. Recent work investigating torque behavior of wild-type flies (similar to our shorter experiments here) has shown that, during extended flights, the occurrence of turning maneuvers can be described by a Le´vi distribution (Maye et al., 2007). Such distributions of behavioral output, seen in foraging behavior in many animals, are characteristically long-tailed. This means that animals may occasionally persist with one behavioral choice for unusually long, but most often choices alternate at a more regular, normally distributed rate. The advantage of allowing for occasional long forays into one direction is presumably to chance on a new resource away from the proximal search space. Such behavior has been found to be ecologically advantageous, but mechanisms driving such alternation tendencies have not been documented in the Drosophila brain. One interpretation of our results is that the mushroom body circuits defined by dunce/ rutabaga/radish expression are involved in establishing the balance between persistence and flexibility [i.e., the explore/exploit dilemma (Daw et al., 2006)]. A separate set of results has independently also arrived at a similar conclusion, suggesting that the mushroom bodies could be involved in maintaining a period of behavioral flexibility (i.e., attention-like processes) before a longer-term transition to habit formation or motor learning
To me, this research adds another intriguing possibility to the autism-psychosis dimension, that of ADHD as a childhood phenotype/risk factor for later psychosis.
van Swinderen, B., & Brembs, B. (2010). Attention-Like Deficit and Hyperactivity in a Drosophila Memory Mutant Journal of Neuroscience, 30 (3), 1003-1014 DOI: 10.1523/JNEUROSCI.4516-09.2010
I have blogged extensively about the Autism and Schizophrenia as opposites on a continuum theory. I remember first putting this theory in words in an article 3 yrs back on the mouse trap titled Autism and Schizophrenia: the two cultures. That 2006 article, in turn, was inspired by Daniel Nettle’s 2005 article in Journal of Research in Personality where Nettle had also proposed the dichotomy and that paper helped crystallize my thoughts on the subject, a theory which I had been building on my own and now supported by someone like Nettle who I respect a lot. Important to note that at that time I was blissfully unaware of Badcock or Crespi and their work. It is to the credit of Badcock that he had published in 2006 his own theory of Autism and Schizophrenia as opposites on a continuum based on parental imprinting of genes and proposed a mechanism. Crespi I guess got involved in Badcocks’s efforts later on and gave it more experimental and theoretic grounding. I firts became aware of Badcock and Crespi’s work in early 2008.
The wider world became aware of the Autism/Schizophrenia dichotomy sometime in late 2008 (November 2008) . at that time too, I was a little disappointed because most of the coverage did not mention Daniel Nettle, who I think should be credited for this work and line of reasoning too. As a consolation, some reports did mention Chris Frith who has also been partly supporting the thesis.
I wanted to give a historical perspective, because I am sure the recent Crespi article would be grabbed on by mainstream media and the pioneers Chris Frith/Nettle perhaps overlooked- but to me they too are heroes for having come up with such profound early insights. this is not to discredit teh work of Badcock and Crespi- they are doing a thorough job of convincing the skeptics and delineating the exact mechanism and genetics involved.
While we are on the topic of historical perspective , let me also pat myself on the back. In May 2008, a study came out that de novo Copy Number Variations’s (CNVs) were quite high in schizophrenics and they are in the same region as that for autistics who also have high CNVs in the same region. While some took that result to imply that Schizophrenia and Autism are same and are not different, I persisted and proposed a mechanism, whereby they could still be opposites : To quote:
Now as it happens previous research has also found that CNVs are also found to a higher extent in autistics. Moreover, research has indicated that the same chromosomal regions have CNVs in both Autism and Schizophrenia. To me this is exciting news. Probably the chromosomal region (neurexin related is one such region) commonly involved in both schizophrenia and autism is related to cognitive style, creativity and social thinking. Qualitatively (deletions as opposed to duplications) and quantitatively (more duplications) different type of CNVs may lead to differential eruption of either Schizophrenia or Autism as the same underlying neural circuit gets affected due to CNVs, though in a different qualitative and quantitative way.
Now one and half year later Crespi et al report the results of their study which has found exactly the same- that is, if deletions in some locus lead to autism, duplications lead to schizophrenia and vice versa. That to me is clinching evidence of my thesis. Who says Science does not happen on blogs- I proposed something to flow as a consequence of theory and exactly the same thing is found as per the hypothesis. I feel vindicated and emotional to some extent. Loves labor has not been lost to deaf ears.
Let us then return to the new and latest study that has sort of proven that Autism and Schizophrenia are opposites, genetically. Crespi et al, report in the latest PNAS edition that comparative genomics leads to that conclusion. What Crespi et al did was look at theCNV s and the locus whee CNV in both Autism and Schizophrenia are involved and sure enough they found the pattern I had proposed. I’ll now quote from the abstract and the article extensively:
We used data from studies of copy-number variants (CNVs), singlegene associations, growth-signaling pathways, and intermediate phenotypes associated with brain growth to evaluate four alternative hypotheses for the genomic and developmental relationships between autism and schizophrenia: (i) autism subsumed in schizophrenia, (ii) independence, (iii) diametric, and (iv) partialoverlap. Data from CNVs provides statistical support for the hypothesis that autism and schizophrenia are associated with reciprocal variants, such that at four loci, deletions predispose to one disorder, whereas duplications predispose to the other. Data from single-gene studies are inconsistent with a hypothesis based on independence, in that autism and schizophrenia share associated genes more often than expected by chance. However, differentiation between the partial overlap and diametric hypotheses using these data is precluded by limited overlap in the specific genetic markers analyzed in both autism and schizophrenia. Evidence from the effects of risk variants on growth-signaling pathways shows that autism-spectrum conditions tend to be associated with upregulation of pathways due to loss of function mutations in negative regulators, whereas schizophrenia is associated with reduced pathway activation. Finally, data from studies of head and brain size phenotypes indicate that autism is commonly associated with developmentally-enhanced brain growth, whereas schizophrenia is characterized, on average, by reduced brain growth.These convergent lines of evidence appear most compatible with the hypothesis that autism and schizophrenia represent diametric conditions with regard to their genomic underpinnings, neurodevelopmental bases, and phenotypic manifestations as reflecting under-development versus dysregulated over-development of the human social brain.
Copy Number Data. Rare copy-number variants (CNVs) at seven loci, 1q21.1, 15q13.3, 16p11.2, 16p13.1, 17p12, 22q11.21, and 22q13.3 (Tables S1 and S2), have been independently ascertained and associated with autism and schizophrenia in a sufficient number of microarray-based comparative genomic hybridization (aCGH) and SNP-based studies to allow statistical analysis of the frequencies of deletions versus duplications in these two conditions (Table 1, Tables S3–S9). For five of the loci (1q21.1, 16p11.2, 16p13.1, 22q11.21, and 22q13.3), specific risk variants have been statistically supported for both autism and schizophrenia using case-control comparisons, which allows direct evaluation of the alternative hypotheses in Fig. 1. One locus (16p13.1) supports a model of overlap, and four loci support the reciprocal model, such that deletions are associated with increased risk of autism and duplications with increased risk of schizophrenia (16p11.2, 22q13.3), or deletions are associated with increased risk of schizophrenia and duplications with increased risk of autism (1q21.1, 22q11.21). For 1q21.1 and 22q11.21, contingency table analyses also indicate highly significant differences in the frequencies of deletions compared with duplications for the two disorders, such that schizophrenia is differentially associated with deletions and autism with duplications. By contrast, for 16p11.2 and 22q13.3 such analyses show that autism is differentially associated with deletions and schizophrenia with duplications.
I cannot cut n paste the table, but a look at the table clears all doubts. They also look at gene association data and come to a similar conclusion ruling out model A (autism, subsumed in schizophrenia) or model B (autism and schizophrenia are independent of each other).
Models 1C (diametric) and 1D (overlapping) both predict broad overlap in risk genes between autism and schizophrenia, and do not necessarily predict an absence or paucity of genes affecting one condition but not the other. In theory, these models can be differentiated by using data on specific risk alleles for specific loci (such as single-nucleotide polymorphisms, haplotypes, or genotypes), which should be partially shared under the overlapping model but different under the diametric model. For the genes DAO, DISC1, GRIK2, GSTM1, and MTHFR, the same allele, genotype, or haplotype was associated with both autism and schizophrenia, and for the genes AHI1, APOE, DRD1, FOXP2, HLA-DRB1, and SHANK3, alternative alleles, genotypes, or haplotypes at the same loci appear to mediate risk of these two conditions (SI Text). For the other genes that have been associated with both conditions, heterogeneity in the genetic markers used, heterogeneity among results from multiple studies of the same genes, and the general lack of functional information preclude interpretation in terms of shared or alternative risk factors.
Models of autism as a subset of schizophrenia (Fig. 1A), and autism and schizophrenia as independent or separate (model 1B), can be rejected with some degree of confidence, but models involving diametric etiology (model 1C) or partial overlap (model 1D) cannot be clearly rejected. Taken together, most of the data and analyses described here appear to support the hypothesis of autism and schizophrenia as diametric conditions, based primarily on the findings that reciprocal variants at 1q21.1, 16p11.2, 22q11.21, and 22q13.3 represent statistically-supported, highly-penetrant risk factors for the two conditions (Table 1), and that for a number of genes, alternative alleles or haplotypes appear to mediate risk of autism versus schizophrenia.
Additional lines of evidence supporting the diametric hypothesis, from previous studies of autism and schizophrenia, include:
1. Data showing notable rarity of familial coaggregation of autism with schizophrenia (38), in contrast, for example, to strong patterns of co-occurance within pedigrees of schizophrenia, schizoaffective disorder, and bipolar disorder (39).
2. Psychiatric contrasts of Smith-Magenis syndrome with Potocki-Lupski syndrome (due to the reciprocal duplication at the Smith-Magenis locus), Williams syndrome with cases of Williams-syndrome region duplication, and Klinefelter syndrome with Turner syndrome, each of which tends to involve psychotic-affective spectrum phenotypes in the former syndrome, and autistic spectrum conditions in the latter (5, 40).
3. Effects of autism and schizophrenia risk alleles on common growth-signaling pathways, such that autism has been associated with loss of function in genes, such as FMR1, NF1, PTEN, TSC1, and TSC2 that act as negative regulators of the PI3K, Akt, mTOR, or other growth-signaling pathways (41–45), whereas schizophrenia tends to be associated with reduced function or activity of genes that up-regulate the PI3K, Akt, and other growth-related pathways (46–49).
4. Increased average head size, childhood brain volume, or cortical thickness in individuals with: (i) idiopathic autism (50–53), (ii) the autism-associated duplications at 1q21.1 (17) and 16p13.1 (32) and the autism-associated deletions at 6p11.2 (31), and (iii) autism due to loss of function (or haploinsufficiency) of FMR1 (54), NF1 (55), PTEN (56) and RNF135 (57). By contrast, reduced average values for brain size and cortical thickness, due to some combination of reduced growth and accelerated gray matter loss, have been demonstrated with notable consistency across studies of schizophrenia (58–62), and such reduced head or brain size has also been associated with the schizophrenia-linked CNVs at 1q21.1 and 22q11.21 (17, 63, 64), and with deletions of 16p13.1 (65).
I am more than pleased with these results. Badcock too is. You can read his comments here. What about you? What would it take to convince you? 🙂
Crespi, B., Stead, P., & Elliot, M. (2009). Evolution in Health and Medicine Sackler Colloquium: Comparative genomics of autism and schizophrenia Proceedings of the National Academy of Sciences DOI: 10.1073/pnas.0906080106
I recently came across this TED talk by Devdatt Patnaik, A chief Belief Officer in an Indian industry group and was fascinated by his description of the distinction between logos based ‘the’ world which is objective, logical, universal, factual and science based and mythos based ‘my’ world which is subjective,emotional, personal, belief-based and mythological in nature. while ‘the’ world tries to answer ‘how’, ‘my’ world tires to answer ‘why’.
To me the same is true of Autism and Psychosis dichotomy. While autistic frame of reference is rooted in ‘the’ world – trying to apply a science based approach even to the mind and mental; the psychotic frame of reference becomes detached from ‘the’ world and is totally enamored by the subjective depths of ‘my’ world -attributing mental properties to physical things too.
Devdatt, later on goes to contrast East Vs West Myths and here at the second order , though we are talking of mythos and not of logos and are in the psychotic/mythic world , we see a difference in focus, between the eastern traditions and the western traditions. While the east is portrayed as more spiritual and renunciation-believing in multiple lives and thus multiple chances; the west is depicted as more materialistic and ambitious and believing in one and only life and thus believing in only one chance of redemption -and though this dichotomy may be simplistic it does bring into focus the fact that the cultures do differ profoundly.
The difference between cultures and mythologies, and the people shaped from them thereof, is important in light of a new study , for eg., that demonstrates that most of the behavioral research is carried on with WEIRD people! WEIRD stands for Western, Educated, Industrial, Rich and Democratic subjects and the paper claims that these WEIRD subjects are outliers and not representative of the general population. If much of the scientific and psychological research is done on WEIRD subjects (which is a fact) and if WEIRD are not representative of the population (which seems reasonable given the differences in culture and the ability of culture to shape people) , than that raises a more serious questions on the results of behavioral studies than the voodoo correlations paper raised questions about the fMRI studies.
Devdutt, though seems to be slightly biased towards Indian culture, but the TED talk is worth a watch. And you may also find one of my earlier post relating Indian culture,religion, and Autism, Schizophrenia quite pertinent here.
Do you think Devdutt is right when he stresses differences in cultures and myths? If so, do you think Culture shapes people? and if so do you believe with Norenzayan et al that if we just do studies based on WEIRD subjects, our results are not representative but skewed. Lot of questions to think about!
Joseph Henrich, Steven J. Heine, & Ara Norenzayan (2009). The Weirdest People in the World? Behavioral and Brain Sciences
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Two main underlying deficits have been proposed in autism– one concerning an inactive or non-existent Theory of Mind module and another a tendency towards Weak Central Coherence. ToM defects reflect in the communicative, social and imaginative deficits seen in autistics; while the savant skills as well as restrictive and repetitive behavior (restricted repertoire of interests ;obsessive desire for sameness – islets of ability – idiot savant abilities – excellent rote memory – preoccupation with parts of objects ) are best explained by taking recourse to the Autism-as-a cognitive-style having weak Central Coherence argument. I’ve discussed the crucial aspects of both of these two dimensions in y series of posts on autism and psychosis and shown how they have to be seen on a continuum and more as deviation from the normal range with one end as autism and the other as psychosis. We also know that psychosis itself is two dimensional with one dimension being that of schizophrenic spectrum and the other the bipolar spectrum. Thus what I propose is that we start seeing Autism also as a two dimensional disorder with TOM defect subtype a mirror image of schizophrenia; while the Weak CC subtype a mirror image of bipolar or manic depressive phenotype. Here are autistic and psychotic features on these dimensions (from Autism, Happe, the autistic deficits and assets table):
ordering behavioural pictures (Baron-Cohen et al. 1986) vs ordering mentalistic pictures understanding “see” (Perner et al. 1989)
deception false photographs (Leekam & Perner 1991, Leslie & Thaiss 1992) vs. false beliefs recognising happiness and sadness (Baron-Cohen et al. 1993a)
recognizing surprise object occlusion (Baron-Cohen 1992) vs. information occlusion
literal expression (Happé 1993) vs. metaphorical expression
elicited structured play (Wetherby & Prutting 1984)vs. spontaneous pretend play
instrumental gestures (Attwood et al. 1988) vs. expressive gestures
talking about desires and emotions (Tager-Flusberg 1993) vs. talking about beliefs and ideas
using person as tool (Phillips 1993) vs. using person as receiver of information
showing “active” sociability (Frith et al. 1994) vs. showing “interactive” sociability
It is also pertinent in this regard to revisit the question of co-occurrence of autism and schizophrenia. Happe maintains that psychois can only be relaibly seen in Asperge’s group who might have a late developing ToMm ability. To quote:
The higher incidence of psychiatric disorders in this group (asperger’s group) (Tantam 1991, Szatmari et al. 1989b) is well explained by this hypothesis. Depression will be more common since these people have greater insight into their own difficulties and their own feelings and thoughts. Positive symptoms of psychosis, such as hallucinations and delusions would be found only in Asperger’s syndrome cases by this account, if one takes Frith & Frith’s (1991) view of these symptoms as resulting from an “over-active” theory of mind. Asperger’s syndrome people, who gain theory of mind late and therefore abnormally, may be at high risk for having their theory of mind “go wrong”. On this hypothesis it would be impossible for a Kanner-type autistic person (who has no theory of mind) to show these psychotic or positive symptoms. In this sense (according to Frith & Frith’s theory) Asperger’s syndrome would be something of a midpoint between autism and (positive or florid) schizophrenia; while the former is due to a lack of theory of mind, and the latter due to over-active theory of mind, some people with Asperger’s syndrome may show both the scars of early lack and the florid symptoms of late acquired theory of mind working abnormally hard.
There is some preliminary evidence to support the suggestion that the term “Asperger’s syndrome” could meaningfully be restricted to those subjects with autism who have achieved some ability to think about thoughts. Ozonoff et al. (1991) found that their group labelled (perhaps arguably) as having Asperger’s syndrome did not show impairments relative to controls.
It is interesting to note the ‘over-active’ theory of mind reference to Frith and Frith. I could not locate that paper but came across another paper by Abu-akkel that propose over-active ToM as a mechanism of psychosis. There are also some full textrelated articles available online that may be of interest to the serious reader. As for me, it is heartening to note that others concur with the theory of autism and psychosis as opposites on a continuum.
Let me start with core thesis of Ulrich that there are at least five different types of selves that we gradually become aware of in developmental time frame. Because Ulrich does such a nice job of presenting his findings , I’ll quote at length from him.
The analysis to be presented here distinguishes among several kinds of self-specifying information, each establishing a different aspect of the self. These aspects are so distinct that they are essentially different selves: they differ in their origins and developmental histories, in what we know about them, in the pathologies to which they are subject, and in the manner in which they contribute to human social experience. Here, in capsule form, is the list:
•The ecological self is the self as perceived with respect to the physical environment: I am the person here in this place, engaged in this particular activity.
•The interpersonal self, which appears from earliest infancy just as the ecological self does, is specified by species-specific signals of emotional rapport and communication: I am the person who is engaged, here, in this particular human interchange.
•The extended self is based primarily on our personal memories and anticipations: I am the person who had certain specific experiences, who regularly engages in certain specific and familiar routines.
• The private self appears when children first notice that some of their experiences are not directly shared with other people: I am, in principle, the only person who can feel this unique and particular pain.
• The conceptual self or ‘self-concept’ draws its meaning from the network of assumptions and theories in which it is embedded, just as all other concepts do. Some of those theories concern social roles (husband, professor, American), some postulate more or less hypothetical internal entities (the soul, the unconscious mind, mental energy, the brain, the liver), and some establish socially significant dimensions of difference (intelligence, attractiveness, wealth). There is a remarkable variety in what people believe about themselves, and not all of it is true.
Note the five stage model fitting perfectly to the T. The first stage marked by a sensory stage that is more defined in relation to the environment around. The second stage more subjective in nature and based on agentic conceptions of intersubjectivity- related to significant humans around and also valence and affect based. The third stage being ‘experiential ‘ in nature and marked by remembered/internalized activities with family playing a major role in its development. The fourth stage marked by hidden or private stage in which peers or social sphere plays a significant role- also the most traditional defintion and conceptualizations associated with a trait. The fifth, and for now the final, stage associated with abstracting and conceptualization and model-driven depending on culture and subject to cultural variations and also cognition based. Many of the stage features may not be readily apparent and map to the five forms of selves described above, but bear with me- they will become clearer as I elaborate on the selves and quote more from the article.
First let us take the ecological self: Neisser describes them in slightly technical and inaccessible terms of ‘optic flow’ and ‘looming’ -some difficult concepts to grasp but which basically focus on the fact that relative motion between eye(observation point) and the environment (say a wall) lead to this sense of an ecological self that is perceiving the immediate environment and also acting on it. Neisser discusses experiments with children in this context like the child when he closes his eyes claims that you cannot see him. See more below:
One surprising bit of evidence for the importance of optical flow for the ecological self comes from a phenomenon investigated by Flavell, Shipstead & Croft (1980). The phenomenon is amusing in its own right and has often been described: young children cover their eyes with their hands and say “You can’t see me!” Prior to the work of Flavell et al. (1980), this behavior was typically interpreted in Piagetian terms: since the child cannot see anything, s/he assumes that you can’t see anything either. Indeed, when these experimenters asked their eyes-covered subjects “Can I see you?”, most 2- and 3-year-olds answered No. Surprisingly, however, the same subjects answered Yes to many other questions about what the experimenter could see. “Can I see Snoopy (a doll located nearby)?” Yes. “Can I see your leg?” Yes. “Can I see your head?” Yes. These results show that “You can’t see me” does not reflect any egocentric misapprehension about other people’s seeing; rather, it is a clue to the speaker’s own conception of self. The child’s ‘me’—the entity to which the adult’s question “Can I see you?” refers—is evidently somewhere near the eyes. To be sure, that localisation is not precise: Flavell et al. got mixed results when they had their subjects cover only one eye, or stand behind a barrier with a hole in it so that nothing but an eye was visible. Nevertheless the implication seems clear: children locate the self at the point of observation, as specified by the optical flow field.
Important as it is, optical flow is by no means the only determinant of the ecological self. The self is an embodied actor as well as an observer; it initiates movements, perceives their consequences, and takes pleasure in its own effectivity. Infants love to look at their own hands in action, and they can distinguish their own moving legs, seen in real time on a TV screen, from the moving legs of another baby (Bahrick & Watson, 1985). Many theorists have noted the importance of agency in establishing a sense of self. I can cause changes in the immediately perceptible environment, and those objects whose movements and changes I can inevitably and consistently control are parts of me. This kind of self-perception is precisely time dependent and richly intermodal. I can see and feel what I do: the optical and kinesthetically-given structures that specify the consequences of movement are exactly synchronous, and both coincide with the efferent activity by which the action itself is produced. In general, then, the two principal aspects of the ecological self are defined by two distinguishable kinds of information. The existence of a perceiving entity at a particular location in the environment is most clearly specified by the optical flow field (though touch and hearing also contribute); the existence of a bounded, articulated and controllable body is specified not only by what we can see of it but by what we feel and what we can do6.
The ecological self does not always coincide with the biological body. In particular, anything that moves with the body tends to be perceived as part of the self—especially if its movements are self-produced. This principle applies most obviously to the clothes we wear. It is / who kick the soccer ball, though in fact its only contact is with my shoe; when you touch my shoulder you are touching me, even when a shirt and a jacket interpose between your fingers and my skin. These experiences have nothing to do with my ownership of the clothes. The same jacket is not part of my ecological self when it hangs in my closet, or when I am carrying it home from the cleaners; to touch it in such cases is not to touch me at all. What matters is not possession or contact but agency and co-ordinate movement. The same principle explains why the practised wearer of an artificial limb so naturally perceives it as a part of the self. Such wearers have not mistakenly come to believe that the limbs are flesh-and-blood parts of their bodies. On the contrary, their perceptions are exactly correct: to the extent that the motion of a limb is responsive to one’s intentions and is co-ordinated with movements of the point of observation, it belongs to the ecological self.
He also gives example of the colloquial use of identification with your car while you are driving one. He also claims that this self is present from birth and only refines a bit with experience. He believes phantom limbs and neglect are pathologies associated with this kind of self.
In summary, here are some of the characteristics of the ecological self:
• The self, like the environment, exists objectively; many of its characteristics are specified by objectively-existing information. That information allows us to perceive not only the location of the ecological self but also the nature of its ongoing interaction with the environment.
•Much of the relevant information is kinetic, consisting of structure over time. Optical structure is particularly important, but self-specifying information is often available to several perceptual modalities at once.
•The ecological self is veridically perceived from earliest infancy; nevertheless self-perception develops and can become more adequate with increasing age and skill.
Next we come to the inter personal self:
The interpersonal self is the self as engaged in immediate unreflective social interaction with another person. Like the ecological self, it can be directly perceived on the basis of objectively existing information. Again like the ecological self, most of the relevant information it is essentially kinetic, i.e. consists of structures over time. In this case, however, the information—and the state of affairs that it specifies—come into existence only when two (or more) people are engaged in personal interaction. If the nature, direction, timing, and intensity of one person’s actions mesh appropriately with the nature/direction/timing/intensity of the other’s, they have jointly created an instance of what is often called intersubjectivity. The mutuality of their behaviour exists in fact and can be perceived by outside observers; more importantly, it is perceived by the participants themselves. Each of them can see (and hear, and perhaps feel) the appropriately interactive responses of the other. Those responses, in relation to one’s own perceived activity, specify the interpersonal self.
Then he illustrates some mother-child cooing examples and elaborates:
These interactions illustrate what Trevarthen has called ‘primary intersubjectivity’. The participants respond to each other immediately and coherently, in both action and feeling; their reciprocal activities are closely co-ordinated in time. The result is a shared structure of action—a structure that both of the participants enjoy, and that neither of them could have produced alone. Indeed, the contributions of the individual partners would be useless and foolish if they occurred by themselves. An elegant experiment by Lynne Murray (Murray & Trevarthen, 1985) demonstrates this point. Mothers and their 6 to 12 week-old babies, actually in separate rooms, interacted via double closed-circuit television. Each partner saw and heard a fullface, life-size video image of the other, with appropriate eye contact being made. As long as the video presentation was ‘live’, this system allowed interaction to proceed normally: the babies looked intently at their mothers with open and relaxed mouth, slightly raised eyebrows, and other signs of interest. The first minute of live interaction comprised the control condition. It was recorded on videotape; the tape of the mother was then rewound and immediately replayed on the infant’s screen. This second (replay) minute comprised the experimental condition. Although what the infants saw and heard was identically the same in both conditions—the same mother, the same gestures, the same displays of affection—their responses were dramatically different. In the experimental condition, the babies who had been happy a minute ago now exhibited signs of distress: they turned away from the mother’s image, frowned, grimaced, and fingered their clothing.10. (A final control presentation ensured that they had not simply become tired of the situation itself.) The subjects’ distress during the replay was evidently produced by some kind of mismatch between their mothers’ responses and their own.
Murray’s study shows that infants in normal face-to-face interactions are not just picking up information about their partners; they actually perceive the ongoing intersubjective relationship. J. J. Gibson’s (1979) principle that all perceiving involves co-perception of environment and self applies also to the social environment and to the interpersonal self, i.e. the self that is established in these interactions. Just as the ecological self is specified by the orientation and flow of optical texture, so the interpersonal self is specified by the orientation and flow of the other individual’s expressive gestures; just as the ecological self is articulated and confirmed by the effects of our own physical actions, so the interpersonal self is developed and confirmed by the effects of our own expressive gestures on our partner.
These examples (Stern gives many others) show again that intersubjectivity is anemotional business: the two partners are obviously sharing an affect. Nevertheless,the ordinary vocabulary of the emotions is not adequate to describe what is going on. It is not just that both are ‘happy’ or ‘excited’, but that the mother is precisely matching the pattern and temporal contour of the infant’s activity with her own. Such ‘vitality affects’ (Stern, 1985) are specified by information in several sensory modalities: in visible movement, in the emphasis and modulation of the voice, in bodily contact. Their specification is so rich that they are readily perceived and shared, not only between mothers and infants but between any two individuals in social contact. The resulting experience is an immediate awareness of both the other person and the (interpersonal) self, as well as of the specific present relationship between them.
Now comes the important part. The claim that developmental failures at this stage are associated with autism. I would in parallel surmise that too much reliance on this intersubjective self should however dispose towards psychosis too.
The close parallels between ecological and interpersonal self-perception should not be allowed to obscure certain important differences. The successful achievement of intersubjectivity depends not only on the operation of the perceptual and motor systems but on some additional, specifically human mechanism that permits us to relate to members of our own species. The mechanism can fail, and it has often been suggested that the dramatic condition called infantile autism, characterised from the outset by a total lack of interest in relationships with people, results from just such a failure. Leo Kanner made this point explicitly in the paper that established autism as a diagnostic category: “We must, then, assume that these children have come into the world with innate inability to form the usual, biologically provided affective contact with people, just as other children come into the world with innate physical or intellectual handicaps” (1943, p. 250). Murray (1984) has recently presented a similar argument, and suggested that the effects observed in her double closedcircuit television paradigm may provide useful models for autism research.
Awareness of the interpersonal self is almost invariably accompanied by a simultaneous awareness of the ecological self. A wealth of information specifies their co-existence: I can see that the person to whom you are addressing yourself (the interpersonal me) is the very person who is located here, at this point of observation in this environment (the ecological me). For this reason, these two aspects of the self are rarely experienced as distinct. Such a separation can occur, however, if we attend exclusively to one class of information and ignore the other entirely. To attend only to ecological information structures, ignoring the interpersonal, is to treat another individual merely as a non-human object—perhaps to walk past him, or shove him aside, without engaging in any form of intersubjectivity. The opposite case can occur in very intimate personal contact, as between lovers or (as psychoanalysts have long suggested) between mothers and infants: one’s attention is so fully directed to the ongoing intersubjective experience that one does not pick up any ecological-self-specifying information at all. This does not mean that lovers and infants have no ecological selves, but only that there are moments at which those aspects of their selves may go unnoticed.
It is interesting to note that Neisser equates too much inetrsubjectivity with the obsession (or colloquial) madness involved in bond between lovers/ parents-child.
Next he analyzes the extended self:
The objectively-existing kinds of information considered so far—optical flow, effective movement, other people’s expressive gestures—specify only the present self. We can see what we are doing right now, and with whom, but how can we know what we did yesterday or last week? The answer, of course, is just that we remember, the information is in our own heads. The extended self is the self as it was in the past and as we expect it to be in the future, known primarily on the basis of memory.
He discusses amnesia as a pathology of thisslef and distinguishes between episodic memory and scripts involved at this stage.
Genuine remembering occurs when at least some information about the past is disentangled from the current situation. In many cases, that information is about my past, i.e. it is a record of some aspect of the extended self14. In remembering something that I did or experienced on some’other occasion—by remembering that I did it rather than merely how to do it—I necessarily became aware that my existence transcends the present moment. This can happen in two rather different ways. To the extent that what I recall is a unique and particular past event (say, presenting a colloquium talk at the University of Aberdeen in November 1987), I am having an episodic memory (Tulving, 1972). But to the extent that what I recall is a repeated and familiar routine (there is a script for colloquiua that includes arriving in town, talking to colleagues, being introduced, giving the talk, answering questions, etc.), I am using a general event representation (Nelson, 1986) or script (Schank & Abelson, 1977). Both kinds of memory contribute to the extended self. / am the person who gave that colloquium in Aberdeen: I am also a person who gives colloquium talks from time to time. While these two examples are certainly not among the most central components of my extended self (!), that self can be thought as a kind of cumulated total of such memories: the things I remember having done and the things I think of myself as doing regularly.
Recent studies show that episodic recall, like script knowledge, is in place by the age of three. A 2 \ -year-old child will often fail to remember the particular ‘target event’ that an interviewer first asks about, but s/he will usually have at least some fairly accurate memories that go back 3 or more months (Todd & Perlmutter, 1980; Fivush, Gray & Fromhoff, 1987). Despite these findings, I doubt that episodic memory contributes very much to the sense of self at this early age. Children under 3 years are not very interested in the past, even when they can recall it. They would much rather talk about something in the present—or play and not talk at all—then spend effort in remembering earlier experiences (Galotti & Neisser, 1982). That interest increases as the child come to realise the social significance of autobiographical recall, i.e. its potential for extending relationships beyond the present moment. The most important adaptive function of memory may be that it makes permanent interpersonal relations possible, and thus vastly strengthens the coherence of human groups (Neisser, 1988). Note that even rather sloppy memories can serve this purpose: my recall of a shared event must be close enough to yours to avoid bizarre discrepancies, but it need not be accurate in every detail. Unsurprisingly, this is just the level of mnemonic accuracy that people generally achieve.
I would like to pause here and reflect on the fact that in amnesia the intersubjective self is dysfunctional- that in my view should lead to problems at this level too. In particular because they do not appreciative the social subtleties that should guide the appropriate memory and scrips generation, they end up with too much detailed memory (savant abilities) and too rigrous scripts (repetitive and restrictive movements and interests). On the other hand too much intersubjectivity reliance in memory and scripts formation should lead to inaccurate and self-serving memories and scripts that are partly delusional and confabulatory.
The extended self becomes increasingly important as we grow older. Most adults develop a more or less standard life-narrative that effectively defines the self in terms of a particular series of remembered experiences. These accounts are continually being extended (and occasionally revised!), creating a narrative structure much like that of more formal autobiographies (Barclay, 1986). As in the case of social relationships, the memory that supports these narratives need not be highly accurate. It also need not deal in equal detail with every epoch of life. Recent studies suggest that elderly people have particularly rich and accessible memories for the period of adolescence and young adulthood.
Note also that how as we move up the developmental stages we move from agentic/experiential “I” to narrative ‘me’, the two types of selves I discussed recently in a different context.
Next he moves to the Private self:
Each of us has conscious experiences that are not available to anyone else. Some of these are the inner aspects of perception and action; others (dreams, for example) are quite independent of the individual’s actual present circumstances. These personal experiences are an important source of self-knowledge15. When are they first used for that purpose? While even the youngest children surely have a conscious mental life (including an awareness of the ecological and interpersonal selves!), I suspect that they do not yet take the immediacy of their experience as an important line of demarcation between themselves and the rest of the world. They do not need to: such a line already exists for them, established by ecologically available information. Although each of us certainly “dichotomizes the Kosmos in a different place,” as William James put it (1890, p. 290), we first do so by exterospection rather than by introspection.
We not only have private experience but remember it, recalling dreams we had last night or thoughts we had last week and thus augmenting the extended self. The importance of this contribution varies substantially from one person to another, perhaps in part because memory for mental experiences is relatively poor. Pains are notoriously difficult to recall; we remember that we were in pain, but cannot easily recapture the quality of the experience. Most people forget most of their dreams almost immediately.
Philosophers in the Western tradition—indeed, in many traditions—have often treated the private self as the only self worth knowing. Descartes is primarily responsible for the further claim that it is the only self we can be sure about, all other experiences being subject to error and delusion. I have argued, in contrast, that the ecological and interpersonal selves are perceived effectively and surely from the beginning of life. (This argument does not dispute the value of the private self, only its epistemiological priority.) In any case it is worth noting that individuals differ widely in the value and importance they attach to inner experience. This was roughly Jung’s original distinction between extraverts and introverts. In the extravert, ” . . . thinking is oriented by the object and objective data” (Jung, 1921/1971, p. 342), while introverted thinking ” . . . is neither determined by objective data nor directed to them; it is a thinking that starts from the subject and is directed to subjective ideas or subjective facts” (p. 344). These are essentially differences in the allocation of attention. All such forms of information and experience are available to everyone, but within the normal range they are not all equally noticed, equally used, or equally valued. Outside the normal range are the pathologies of the private self, which include obsessive thinking, repression and denial of feelings, multiple personality, and related conditions.
The private self to me is the most mundane and boring aspect of self- the “I think therefore I am” dictum.
Next we move on to the most interesting conceptual self:
Each of us has a concept of him/herself as a particular person in a familiar world. These self-concepts originate in social life, and so they vary widely across different societies and cultures. A few concepts of my own can serve as convenient examples: I am an American, a husband, and a professor. I assume that I have certain social obligations and political rights; that I have a liver and a spleen and a distinctive pattern of nuclear DNA; that I am a fast reader, poor at remembering names, and neither handsome nor ugly; that in general I do not think enough about the future consequences of my actions. Everyone could make such a list, and no two lists would be the same. Even the relevant dimensions need not be the same: a member of the Lohorung Rai in East Nepal would include the state of his Niwa (Hardman, 1981), and a medieval Englishman the state of his soul.
In the face of this complexity, it is useful to begin by considering concepts and categories of other kinds. What do we mean, for example, when we say that something is a ‘dog’? The so-called classical theory of concepts, which would claim that the class dog is defined by certain necessary and sufficient features, no longer seem adequate: it is too difficult to think of really definitive features, and those that do come to mind (e.g. ‘has four legs’) are just as hard to define as dog itself (Murphy & Medin, 1985). The classical theory also fails to explain the typicality effects discovered by Eleanor Rosch (1978); in most categories, some members function as ‘prototypes’ while others are more marginal. But category membership cannot just be a matter of similarity to the prototype either: besides the difficulty of defining ‘similarity’, such a definition would miss the point that many categories, including dog, are conceptually all-or-none. (Any given animal either is or isn’t a dog.) These difficulties are resolved by realising that concepts do not stand alone: each is defined with reference to a network of others, i.e. to a theory.
Many linguists, philosophers, and psychologists have made this point (e.g. Lakoff, 1987; McCauley, 1987; Medin & Wattenmaker, 1987). To call something a dog is to assign it to a place in our theory of animals in general and dogs in particular, i.e. to assert that it occupies space, has internal organs, must eat or starve to death, is likely to behave in certain ways, is bigger than a mouse and smaller than an elephant, should be treated in a particular manner appropriate to dogs, had two parents who were dogs and will (if it becomes a parent) have puppies, etc. These beliefs are components (not all equally central) of our implicit theory of doghood—of what George Lakoff (1987) would call an ‘idealised cognitive model’. Children have such models quite early, at least where animals are concerned (Carey, 1985).
I love the references to Lakoff and am a firm believer in his other theory of conceptual metaphors. Next he talks about paranoia and how that may be a result of too much theorizing. This is fortunate reference I have found because just the other day CMB, a reader of this blog pointed that paranoia is hard to explain if we treat autism and schizophrenia as opposites and grant a role for opposing effects of Oxytocin. My reply was that oxytocin may be more a social hormone than a trust hormone and paranoia is more a excessive theorizing about others defect than a suspicion deficit.
These principles apply equally to the concept of self. My notion of what I am, like your notion of what you are, reflects a cognitive model embeded in a theoretical network. It too is based primarily on what I have been told, not only in the form of general cultural assumptions but also of communications addressed to me in particular. Like other concepts it tends to govern what I notice; in this case, what I notice about myself. Like other theories, it is not necessarily correct; all of us know people whose self-theories seem off the mark in certain respects. Nevertheless most self-theories do work fairly well, at least in areas where they make predictions about real experience. (Where this is not the case—e.g. in paranoia—we tend to classify them as pathological.) When Epstein (1973) proposed that psychologists should think of the self as a theory rather than as an independently-existing entity, he was talking about the conceptual self.
Next closely followed are references to Carol Dweck- another psychologist I just adore.
Although the self-concept can usefully be regarded as a single cognitive model, it usually comprises several more or less distinct sub-theories. Three of these deserve specific mention, although they cannot be considered in detail here. Role theories, which have been much studied by sociologists, are our own notions of how we fit into society: of what we should do and how we should be treated. They originate, I think, in children’s understanding of the scripts in which they participate; hence they are in place very early. Internal models, in contrast, concern or bodies and our minds. In modern Western culture, self-theories of the body (like my firm belief that I have an internal organ called the liver18) are mostly based on biology and medicine. Theories of the mind, in contrast, are the province of psychology, philosophy, and religion. Children are presented with these theories by the people around them, and do their best to interpret their own lives in terms of what they have been told. When and what they are told depends, of course, on the particular culture in which they are growing up.
Trait attributions are an important class of self-theories that straddle the boundary between social roles and internal models. We may believe, for example, that we are clever or stupid, handsome or ugly, fortunate or unlucky. Although these dimensions are essentially conventional—not all cultures classify along the same dimensions, or value them to the same extent—they can be of considerable importance. In this vein, Carol Dweck (1986) has shown that children’s beliefs about intelligence affect their actual performance in school. Those who believe that intelligence is a fixed quantity (and that they themselves are stupid) learn much less from school experience than those who have a self-concept that allows for intellectual growth and development. Although such attributions are acquired early, they are not impervious to change.
And thus he concludes talking about some tantalizing tangential thoughts on the perceived and felt unity of self, how we know our neighbors as ourselves , the ‘doer’ as opposed to ‘knower’ and admiring or despising oneself- all perhaps food for the next three stages (relational, reflexive/recursive/generative and integrative ) of self.
I enjoyed reading the article and would like to thank whole heartedly the ‘References wanted’ room on FrinedFeed and Kubke in particular, without whom I would have not had access to this lovely article.
Autism is a hard disorder to nail down genetically- single nucleotide polymorphisms (SNPs) or even multiple locus genetic effects are not able to account for the large genetic component to the disorder. In recent times, Copy number variations (CNVs) has come to the forefront of Autism research , suggesting that microdeletions, duplications etc may account for some cases. Another new , till now unsuspected mechanism that has recently been implicated in autism is epigenetic mechanism of increased methylation in promoter regions that has the effect of silencing/reducing the expression of genes involved to a certain extent. The recent study by Gregory et al, is just such a step in the right direction, which will hopefully bring us closer to the truth.
In a nutshell, the study authors used CNV determining methods to discover that a deletion of OXTR (oxytocin receptor) gene was presnet in an autistic subject and was not de novo , but the deletion was inherited from his mother. One of the affected siblings of the autistic subject, who too was autistic, on the other hand did not have a deletion, but had increased methylation of the OXTR. this led the study authors to revisit their genomics data and look at adta across all autistic subjects and controls and discover that indeed, in other autistics too the OXTR had increased methylation. Then they looked for expression of OXTR in peripheral blood cells and temporal cortex and found that indedd in autistics, as compared to controls, there was reduced expression of OXTR. This strongly suggest that the epigentic changes that lead to autism (the efffect of OXTR suppression) happen quite early in the devlopmenet and might happen in utero.
Before I elaborate on my take home from the study, there are some excerpts (as I know you didn’t read the originals)
Classic autism comprises a spectrum of behavioral and cognitive disturbances of childhood development. The core autism phenotype includes deficits in social interaction, language development and patterns of repetitive behaviors and/or restricted interests. The population prevalence of the spectrum of autism disorders is estimated to range between 1/300  to 1/100 (http://www.nschdata.org/), with a male: female ratio of 4:1 [2,3]. The disorder has been shown to be highly heritable with the relative risk for siblings being approximately 2% to 8%, much higher than that of the general population . To date, only a small percentage of autism cases (<10%) have been ascribed to single gene disorders such as fragile X syndrome, tuberous sclerosis  and Rett syndrome . Numerous approaches including genetic linkage, genome-wide association, candidate gene association and gene expression analysis have been used to identify the additional genes
implicated in the development of autism [7,8]. However, the heterogeneous nature of autism and autism spectrum disorders has limited their success.
An additional approach to identify genes involved in autism is to characterize copy number variants (CNVs), that is, chromosomal deletions and duplications, that are known to be present within at least 5% of individuals with idiopathic autism . Autism CNVs have been shown to involve almost all chromosomes [10,11], with the most frequently observed alteration localizing to chromosome 15q11-13 [12-23]. A number of different methods have been used to characterize autism related CNVs, including but not limited to, cytogenetic Gbanding [14,23,24], metaphase fluorescence in situ hybridization (FISH) , Southern blotting , loss of heterozygosity (LOH) analysis [15-17,19], quantitative polymerase chain reaction (PCR)  and, more recently, genotyping and representational oligonucleotide microarray analysis (ROMA) .
Here we describe the use of genome-wide tilepath microarrays and array comparative genomic hybridization (CGH) to identify CNVs in a dataset of 119 unrelated probands from multiplex autism families . The genomic profiles of our autism dataset were compared to the array CGH profiles of 54 phenotypically normal individuals, to previously published CNVs present within the database of genomic variants  and to the Autism Chromosome Rearrangement Database (http://projects.tcag.ca/autism/). The most significant finding thus far from our analysis is a heterozygous deletion of the oxytocin receptor gene (OXTR) (MIM accession no.: 167055) in an individual with autism and his mother with putative obsessive-compulsive disorder (OCD). We further investigated the relationship between OXTR and autism by carrying out epigenetic analysis of the promoter region of OXTR. We show that the gene is hypermethylated in independent cohorts with autism as compared to controls, in both peripheral blood mononuclear cells (PBMCs) and the temporal cortex. Additionally, our analysis of expression levels of OXTR in the temporal cortex shows decreased levels of expression in individuals with autism as compared to controls matched for age and sex.
These data suggest that OXTR and the oxytocin signaling pathway play an important role in the etiology of autism and autism spectrum disorders and implicate epigenetic misregulation of OXTR in this complex disease.
Epigenetic control of autism susceptibility is a recent concept and most certainly a topic of great interest in the field. Over the past decade, researchers have uncovered suggestive links between epigenetics and autism, for example, autism is associated with duplications of 15q11-13 (especially maternally inherited), an imprinted region in the genome where DNA methylation status has been linked to Prader-Willi syndrome (PWS) and Angelman syndrome (AS) ; mutation within a gene that encodes a methyl-DNA-binding protein (MECP2, (MIM accession no.: 300005)) is the causative agent of Rett syndrome ; and mutation of this same gene has been associated with both autism and AS populations . Nagarajan et al. have shown that 79% of autism cases have a decrease in MECP2 expression in the frontal cortex and that an increase in aberrant DNA methylation correlates with this decrease in MECP2 expression . These data implicate epigenetic dysregulation as a mechanism for the development of autism and justify the examination of DNA methylation of autism candidate genes, such as OXTR identified in this study.
Now from the accompanying (more accessible) commentary:
The article by Gregory et al. published this month in BMC Medicine, reports on genomic and epigenetic alterations of OXTR, the gene encoding the receptor for oxytocin. The involvement of this gene was suggested by its deletion in an autistic patient. The subsequent analysis of a group of unrelated autistic subjects did not show an OXTR deletion, but rather hypermethylation of the gene promoter, with a reduced mRNA expression.
These findings address two major points of the current debate on the etiology and pathogenesis of autism: the role of oxytocin, known to be involved in modeling human behavior, and the possible involvement of epigenetic mechanisms. The nature of this epigenetic dysregulation is unknown but, if proved to be true, might explain the failure to identify sequence alterations in a host of candidate genes. Practical implications of these findings may be forthcoming, however not before extension and validation on a larger scale have confirmed their value.
The second issue raised by Gregory et al. deals with the epigenetic inhibition of OXTR expression in ASD. Such epigenetic modification, at least as reported so far, does not seem to be sequence based but rather of a different, as yet unknown nature. This might explain why researchers have been looking for decades for genetic mutations in ASD and yet have found almost none. An epigenetic mechanism would justify the ‘unusual’, non-Mendelian familial aggregations of ASD. In this respect, even the family with OXTR deficiency reported by Gregory et al. shows an unusual genotype-phenotype correlation, in that the same phenotype is caused by alterations of the same gene but due to different molecular defects (deletion versus hypermethylation).
Also, the possibility that in most ASD patients there might be an epigenomic instability is of interest in consideration of the fact that it has been shown that the epigenetic status in early fetal development can be reprogrammed by maternal behavior in a reversible way . Therefore, other environmental factors, yet to be discovered, might also be able to reprogram the epigenotype of the embryo.
I hope the fact that epigenetic changes may happen during pregnancy line of reasoning does not lead to the harmful and without-any-basis vaccination is cause of autism arguments. On the other hand I had covered earlier how Autism is more likely if mother was exposed to valproate during pregnancy or the child soon after birth. What if valproate is instrumental in an epigenetic fashion in leading to more or less methylation and gene expression. It is well known that valproate and valporic acid is given as treatment for psychosis/bipolar. In a similar vein, I am inclined to stick my neck out and claim that in schizophrenics/psychotics , the OXTR should be more expressed : perhaps more methylation, duplications etc . However I am checked in my musings by these studies that claim that negative symptoms of schizophrneia may be associated with reduced oxytocin activity in the brain. Yet, all said and done I would like to see a study that analyzes for epigenetic mechanisms in schizophrneia especially at the OXTR locus. Although the negative symptoms like social withdrawal of schizophrenia may lead to the opposite hypothesis regarding schizophrenia and oxytocin correlation, I am inclined to believe that schizophrenics (at least those suffering from positive symptoms predominantly) are too much oxytocin guided , trusting and socially too much involved in others type of people.
Gregory, S., Connelly, J., Towers, A., Johnson, J., Biscocho, D., Markunas, C., Lintas, C., Abramson, R., Wright, H., Ellis, P., Langford, C., Worley, G., Delong, G., Murphy, S., Cuccaro, M., Persico, A., & Pericak-Vance, M. (2009). Genomic and epigenetic evidence for oxytocin receptor deficiency in autism BMC Medicine, 7 (1) DOI: 10.1186/1741-7015-7-62 Gurrieri, F., & Neri, G. (2009). Defective oxytocin function: a clue to understanding the cause of autism? BMC Medicine, 7 (1) DOI: 10.1186/1741-7015-7-63
Hat tip to @Boraz for tweeting about this study.
There is a letter published in the advance online edition of Nature Genetics, that reports that microduplication of genes in the region 16p11.2 are associated with the risk of schizophrenia in a large cohort. It has been earlier shown that microdeletions in the same region confer the risk of Autism.Thus, it seems that the region codes for genes too much of which causes schizophrenia and too little autism. Here is the abstract of the study:
Recurrent microdeletions and microduplications of a 600-kb genomic region of chromosome 16p11.2 have been implicated in childhood-onset developmental disorders. We report the association of 16p11.2 microduplications with schizophrenia in two large cohorts. The microduplication was detected in 12/1,906 (0.63%) cases and 1/3,971 (0.03%) controls (P = 1.2 times 10-5, OR = 25.8) from the initial cohort, and in 9/2,645 (0.34%) cases and 1/2,420 (0.04%) controls (P = 0.022, OR = 8.3) of the replication cohort. The 16p11.2 microduplication was associated with a 14.5-fold increased risk of schizophrenia (95% CI (3.3, 62)) in the combined sample. A meta-analysis of datasets for multiple psychiatric disorders showed a significant association of the microduplication with schizophrenia (P = 4.8 times 10-7), bipolar disorder (P = 0.017) and autism (P = 1.9 times 10-7). In contrast, the reciprocal microdeletion was associated only with autism and developmental disorders (P = 2.3 times 10-13). Head circumference was larger in patients with the microdeletion than in patients with the microduplication (P = 0.0007).
An international team of researchers led by geneticist Jonathan Sebat, Ph.D., of Cold Spring Harbor Laboratory (CSHL), has identified a mutation on human chromosome 16 that substantially increases risk for schizophrenia.
The mutation in question is what scientists call a copy number variant (CNV). CNVs are areas of the genome where the number of copies of genes differs between individuals. The CNV is located in a region referred to by scientists as 16p11.2. By studying the genomes of 4,551 patients and 6,391 healthy individuals, Sebat’s team has shown that having one extra copy of this region is associated with schizophrenia. The study appears online today ahead of print in the journal Nature Genetics. Schizophrenia and autism: two sides of the same coin?
“This is not the first time that the 16p11.2 region has caught our eye,” says Sebat. It was previously spotted in a 2007 study with Professor Michael Wigler at CSHL — a deletion of the identical region was identified in a girl with autism. Studies by several other groups have shown that losing one copy of 16p11.2 confers high risk of autism and other developmental disorders in children.
Taken together these studies suggest that some genes are shared between schizophrenia and autism, according to Sebat and colleagues. “In some ways, we might consider the two disorders to be at opposite ends of the same neurobiological process” says Shane McCarthy, Ph.D., the lead author of the study, “and this process is influenced by the copy number of genes on chromosome 16.” One hypothesis is that the loss of 16p11.2 leads to the deprivation of key genes involved in brain development, while an extra copy of this region might have the opposite effect.
A correlation between 16p11.2 mutations and head size
It is not known what biological processes are affected by the copy number of 16p11.2, Sebat notes. He believes, however, that the team may have stumbled on to an important clue. By studying the clinical records of patients, they discovered that patients with deletions of the region differ significantly in head size from those with duplications of the same region. Sebat reports, “Head circumference of patients with the deletion were larger than average by more than one standard deviation. Head circumference was slightly below average in patients with the duplication.” These findings, he notes, are consistent with some previous studies that have observed a trend towards larger brain size in autism and an opposite trend toward smaller brain size in schizophrenia.
All this nicely fits in with what I have been proclaiming from the rooftops from the early days of this blog: that autism and Schizophrenia are opposites on the same continuum and the genes involved should also be the same. More copy numbers leading to propensity towards psychosis while lesser number or deletions associated with autistic traits. One more puzzle piece fits in and now we know why the brain size differences exist in autistic and schizophrenic persons and what the poetntial function (mentalizing) of region 16p11.2 may be.
McCarthy, S., Makarov, V., Kirov, G., Addington, A., McClellan, J., Yoon, S., Perkins, D., Dickel, D., Kusenda, M., Krastoshevsky, O., Krause, V., Kumar, R., Grozeva, D., Malhotra, D., Walsh, T., Zackai, E., Kaplan, P., Ganesh, J., Krantz, I., Spinner, N., Roccanova, P., Bhandari, A., Pavon, K., Lakshmi, B., Leotta, A., Kendall, J., Lee, Y., Vacic, V., Gary, S., Iakoucheva, L., Crow, T., Christian, S., Lieberman, J., Stroup, T., Lehtimäki, T., Puura, K., Haldeman-Englert, C., Pearl, J., Goodell, M., Willour, V., DeRosse, P., Steele, J., Kassem, L., Wolff, J., Chitkara, N., McMahon, F., Malhotra, A., Potash, J., Schulze, T., Nöthen, M., Cichon, S., Rietschel, M., Leibenluft, E., Kustanovich, V., Lajonchere, C., Sutcliffe, J., Skuse, D., Gill, M., Gallagher, L., Mendell, N., Craddock, N., Owen, M., O’Donovan, M., Shaikh, T., Susser, E., DeLisi, L., Sullivan, P., Deutsch, C., Rapoport, J., Levy, D., King, M., & Sebat, J. (2009). Microduplications of 16p11.2 are associated with schizophrenia Nature Genetics DOI: 10.1038/ng.474
UPDATE: I just revisited my 20th may 2008 post on the matter and realized how prophetic my musings were. Reproducing part of it below the fold for the benefit of newbies to this blog:
CNVs on the other hand present a different model of disease. One can have one or more types of CNVs (deletions, duplications, multiple duplications etc) associated with the same genetic code sequence and this in my view would lead to spectrum like diseases where one may find variations along a continuum on a particular trait- based on how many copies of the genetic sequence one has. One would remember that I adhere to a spectrum based view of schizophrenia/psychosis and also a spectrum based view of Autism. Moreover I believe that Schizophrenia and Autism are the opposite ends of the spectrum, whose middle is normalcy and that the appropriate traits may have to do with social brain, creativity etc.
now as it happen previous research has also found that CNVs are also found to a higher extent in autistics. Moreover, research has indicated that the same chromosomal regions have CNVs in both Autism and Schizophrenia. To me this is exciting news. Probably the chromosomal region (neurexin related is one such region) commonly involved in both schizophrenia and autism is related to cognitive style, creativity and social thinking. Qualitatively (deletions as opposed to duplications) and quantitatively (more duplications) different type of CNVs may lead to differential eruption of either Schizophrenia or Autism as the same underlying neural circuit gets affected due to CNVs, though in a different qualitative and quantitative way.
A mouse trap reader, using skribit, asked me to write a blog post about the history of madness; that is a dauting task, as she herself mentioned that Foucault wrote an entire book on the subject; so though I promise to write that post, in the meantime here is a post about the history of Autism. After this , the next in series would be a brief history of Schizophrenia.
References to schizophrenia can be found since time immemorial, though the actual term and diagnosis is recent. It is believed that the people haunted by Furies of ancient Greek were actually schizophrenics suffering from delusions and hallucinations. As I contrast Autism and Schizophrenia it is apt that I start here; for similar to the rich historic al tradition, Autism can be equated with the ,blessed Fools’ of old Russia, “who were revered for their unworldiness. The apparent insensitivity to pain, bizarre behaviour, innocence, and lack of social awareness that these “Blessed Fools” showed, suggest that they may have had autism. ” (Happe). Similarly in almost all cultures one can find anecdotes and folktales about foolish boys (note that it is a boy and not a girl as autism has always been more prevalent in boys) who take what their mother said too literally- word for word , rather than figuratively and metaphorically or idiomatically.
The modern diagnosis of autism starts with Leo Kanner. Kanner published his first paper about autistic children in 1943, the full text of which can be found here. Some excerpts from the paper, which has many case studies , should help:
Since 1938, there have come to our attention a number of children whose condition differs so markedly and uniquely from anything reported so far, that each case merits – and, I hope, will eventually receive – a detailed consideration of its fascinating peculiarities.
The outstanding, “pathognomonic,” fundamental disorder is the children’s inability to relate themselves in the ordinary way to people and situations from the begining of life. Their parents referred to them as having always been “self-sufficient”; “like in a shell”; “happiest when left alone”;“acting as if people weren’t there”; “perfectly oblivious to everything about him”; “giving the impression of silent wisdom”; “failing to develop the usual amount of social awareness”;“acting almost as hypnotized.”T his is not, as in schizophrenic children or adults, a departure from an initially present relationship; it is not a “withdrawal”from formerly existing participation. There is from the start an extreme autistic aloneness that, whenever possible, disregards, ignores, shuts out anything that comes to the child from the outside. Direct physical contact or such motion or noise as threatens to disrupt the aloneness is either treated “as if it weren’t there”or, if this is no longer sufficient, resented painfully as distressing interference.
Eight of the eleven children acquired the ability to speak either at the usual age or after some delay. Three (Richard, Herbert, Virginia) have so far remained “mute.”In none of the eight “speaking” children has language over a period of years served to convey meaning to others. They were, with the exception of John F., capable of clear articulation and phonation. Naming of objects presented no difficulty; even long and unusual words were learned and retained with remarkable facility. Almost all the parents reported, usually with much pride, that the children had learned at an early age to repeat an inordinate number of nursery rhymes, prayers, lists of animals, the roster of presidents, the alphabet forward and backward, even foreign-language (French) lullabies. Aside from the recital of sentences contained in the ready-made poems or other remembered pieces, it took a long time before they began to put words together. Other than that, “language”consisted mainly of “naming,”of nouns identifying objects, adjectives indicating colors, and numbers indicating nothing specific.
Their excellent rote memory, coupled with the inability to use language in any other way, often led the parents to stuff them more and more verses, zoologic and botanic names, titles and composers of Victrola record pieces, and the like. Thus, from the start, language-which the children did not use for the purpose of communication-was deflected in a considerable measure to a self-sufficient, semantically and conversationally valueless or grossly distorted memory exercise.
When sentences are finally formed, they are for a long time mostly parrot-like repetitions of heard word combinations. They are sometimes echoed immediately, but they are just as often “stored”by the child and uttered at a later date. One may, if one wishes, speak of delayed echolalia. Affirmation is indicated by literal repetition of a question. “Yes”is a concept that it takes the children many years to acquire. They are incapable of using it as a general symbol of assent. Donald learned to say “Yes”when his father told him that he would put him on his shoulders if he said “Yes.”This word then came to “mean”only the desire to be put on his father’s shoulders. It took many months before he could detach the word “Yes”from this specific situation, and it took much longer before he was able to use it as a general term of affirmation.
The same type of literalness exists also with regard to prepositions. Alfred, when asked, “What is this picture about?”replied:”People are moving about.”
John F. corrected his father’s statement about pictures on the wall; the pictures were “near the wall.” Donald T., requested to put something down, promptly put it on the floor. Apparently the meaning of a word becomes inflexible and cannot be used with any but the originally acquired connotation.
But the child’s noises and motions and all of his performances are as monotonously repetitious as are his verbal utterances. There is a marked limitation int he variety of his spontaneous activies. The child’s behavior is governed by an anxiously obsessive desire for the maintenance of sameness that nobody but the child himself may disrupt on rare occasions. Changes of routine, of furniture arrangement, of a pattern, of the [form] in which every-day acts are carried out, can drive him to despair. When John’s parents got ready to move to a new home, the child was frantic when he saw the moving men roll up the rug in his room. He was acutely upset until the moment when, in the new home, he saw his furniture arranged in the manner as before. He looked pleased, all anxiety was suddenly gone, and he went around affectionately patting each piece. Once blocks, beads, sticks have been put together in a certain way, they are always regrouped in exactly the same way, even though there was no definite design. The children’s memory ws phenomenal in this respect. after the lapse of several days, a multitude of blocks could be rearranged in precisely the same unoganized pattern, with the same color of each block turned up, with each picture or letter on the upper surface of each block facing in the same direction as before. The absence of a block or the presence of a supernumerary block was noticed immediately, and there was an imperative demand for the restoration of the missing piece. If someone removed a block, the child struggled to get it back, going into a panic tantrum until he regained it, and then promptly and with sudden calm after the storm returned to the design and replaced the block.
The children’s relation to people is altogether different. Every one of the children, upon entering the office, immediately went after blocks, toys, or other objects, without paying the least attention to the persons present. It would be wrong to say that they were not aware of the presence of persons. But the people, so long as they left the child alone, figured in about the same manner as did the desk, the bookshelf, or the filing cabinet. When the child was addressed, he was not bothered. He had the choice between not responding at all or, if a question was repeated too insistently, “getting it over with”and continuing with whatever he had been doing. Comings and goings, even of the mother, did not seem to register. Conversation going on in the room elicited no interest. If the adults did not try to enter the child’s domain, he would at times, while moving between them, gently touch a hand or a knee as on other occasions he patted the couch. But he never looked into anyone’s face. If an adult forcibly intruded himself by taking a block away or stepping on an object that child needed, the child struggled and became angry with the hand or the foot, and became angry with the hand or the foot, which was dealt with perse [?] and not as a part of a person. He never addressed a word or a look to the owner of the hand or foot. When the object was retrieved, the child’s mood changed abruptly to one of placitidy. When pricked, he showed fear of the pin but not of the person who pricked him.
Note already that all the currently accepted DSM-IV characteristics of Autism like communicative difficulties, social difficulties and stereotyped or repetitive behavior are already well delineated by Kanner. Here one has to pause and note that autism and autistics were used from the social aloofness first observed and documented in schizophrenics by Kreplin and we seem to have come a full circle now by positing that Autism and schizophrenia are opposites on a continuum. It is also heartening to note that Kanner was also way ahead of his times by focusing on the deficit in ‘mentalizing’ in autistic kids.
Just a year after, Hans Asperger , published his paper on ASD kids, and it is remarkable that despite not knowing about each others papers they came with similar terminology (autistic ) to describe the children and agreed on more points than they disagreed on.
Asperger published the first definition of Asperger Syndrome, in 1944. In four boys, he identified a pattern of behavior and abilities that he called “autistic psychopathy”, meaning autism (self) and psychopathy (personality disease). The pattern included “a lack of empathy, little ability to form friendships, one-sided conversation, intense absorption in a special interest, and clumsy movements.” Asperger called children with AS “little professors” because of their ability to talk about their favorite subject in great detail. It is commonly said that the paper was based on only four boys.
Asperger and Kanner agreed as well as disagreed on many things:
Hans Asperger deserves credit for some very striking insights into autism: some insights which Kanner (1943) lacked and which it has taken us many years of research to rediscover. Before considering these particular observations of Asperger’s, it is worth noting the many features on which the two physicians agreed.
Kanner’s and Asperger’s descriptions are surprisingly similar in many ways, especially when one remembers that each was unaware of the other’s ground-breaking paper. Their choice of the term “autistic” to label their patients is itself a striking coincidence. This choice reflects their common belief that the child’s social problems were the most important and characteristic feature of the disorder. The term “autistic” comes from Bleuler (1908), who used the word (from the Greek “autos” meaning “self”) to describe the social withdrawal seen in adults with schizophrenia. Both Kanner and Asperger believed the social handicap in autism to be innate (in Kanner’s words) or constitutional (as Asperger put it), and to persist through life into adulthood. In addition, Kanner and Asperger both noted the children’s poor eye contact, their stereotypies of word and movement, and their marked resistance to change. The two authors report the common finding of isolated special interests, often in bizarre and idiosyncratic objects or topics. Both seem to have been struck by the attractive appearance of the children they saw. Kanner and Asperger make a point of distinguishing the disorder they describe from schizophrenia, on the basis of three features: the improvement rather than deterioration in their patients, the absence of hallucinations, and the fact that these children appeared to be abnormal from their earliest years, rather than showing a decline in ability after initially good functioning. Lastly, both Kanner and Asperger believed that they had observed similar traits—of social withdrawal or incompetence, obsessive delight in routine, and the pursuit of special interests to the exclusion of all else—in the parents of many of their patients.
There are three main areas in which Asperger’s and Kanner’s reports disagree, if we believe that they were describing the same sort of child. The first and most striking of these is the child’s language abilities. Kanner reported that three of his 11 patients never spoke at all, and that the other children did not use what language they had to communicate: “As far as the communicative functions of speech are concerned, there is no fundamental difference between the eight speaking and the three mute children” (Kanner 1943). While phonology (as demonstrated in accurate echolalia) and vocabulary were often excellent, Kanner concluded that of his 11 cases “In none …has language…served to convey meaning”. The picture in all is of a child with profound communicative difficulties and delay; in seven of the 11 cases so profound that deafness was initially suspected (but ruled out). Asperger, by contrast, reported that each of his four case study patients (and, by implication, most of the unspecified number of such children he treated) spoke fluently. Although two of his patients showed some delay, this was followed in both cases by a rapid mastery of language, and it is difficult to imagine any of his cases having been mistaken for deaf. All four cases, by the age of examination (between 6 and 9 years old), spoke “like little adults”. Asperger notes their “freedom” and “originality” in language use, and reports that two of his four cases had a tendency to tell “fantastic stories”.
Asperger’s description also conflicts with Kanner’s on the subject of motor abilities and co-ordination. Kanner (1943) reported clumsiness in only one case, and remarks on the dexterity of four of his patients. He concluded that “several of the children were somewhat clumsy in gait and gross motor performance, but all were very skilful in terms of finer muscle coordination”—in line with their success on the Seguin form board (in which dexterity plays a part) and their ability to spin objects. Asperger, by contrast, described all four of his patients as clumsy, and recounted their problems not only with school sports (gross co-ordination), but also with fine motor skills such as writing. This feature is part of a larger contrast in Asperger’s and Kanner’s beliefs. Kanner believed the autistic child to have a specific impairment in social understanding, with better relations to objects than to people: while his children showed “excellent, purposeful and ‘intelligent’ relations to objects” their “relations to people [were] altogether different”. Asperger, on the other hand, believed that his patients showed disturbances in both areas: “the essential abnormality in autism is a disturbance of the lively relationship with the whole environment” (Asperger 1944, translated in Frith 1991b).
The last area of disagreement in the clinical pictures painted by Asperger and Kanner is that of the child’s learning abilities. Kanner believed that his patients were best at learning rote fashion, but Asperger felt that his patients performed “best when the child can produce spontaneously”, and suggests that they are “abstract thinkers”. (Happe)
We now know that many of the insights of Asperger were correct especially for those suffering from high-functioning autism or Asperger’s syndrome.
A dark period of autism research was the ‘refrigerator mother‘ hypothesis , which posited based on a psychogenic theory that autism was due to bad parenting. The seeds of this theory can be traced back to Kanner, but Bruno Bettelheim gave it a prominence. this theory as now been widely debunked and discredited and caused undue suffering and guilt to a generation of parents.
Leading researchers in the field after these have been Uta Frith, Leslie, Happe and Simon-Baron-Cohen with his ‘mind-blindness’ theory.
Before concluding please visit the DSM criteria and reassess them as now autism, at least by me and many leading researchers, is conceptualized more as a continuum disorder. Hope the DSM-V has a continuum framework for autism.
Kanner L (1968). Autistic disturbances of affective contact. Acta paedopsychiatrica, 35 (4), 100-36 PMID: 4880460