Tag Archives: autism

Putting thought in the right place, part 2

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CAP v2.1.2

In the last blog post, I discussed the Cognitive Action Pathways model, a schematic conceptual representation of the hierarchy of key components that underpin human thought and behaviour.

Small changes in the early processes within the Cognitive-Action Pathway model can snowball to effect every other part of the process. A real life example of this is ASD, or Autism Spectrum Disorder.

ASD has been present since time immemorial. Numerous bloggers speculate that Moses may have had ASD, while a couple of researchers proposed that Samson was on the spectrum (although their evidence was tenuous [1]). Thankfully, autism is no longer considered a form of demon possession or madness, or schizophrenia, or caused by emotionally distant “refrigerator mothers”, nor treated with inhumane experimental chemical and physical “treatments” [2, 3].

The autism spectrum is defined by two main characteristics: deficits in social communication and interaction, and restricted repetitive patterns of behaviour. People on the autism spectrum also tend to have abnormal sensitivity to stimuli, and other co-existing conditions like ADHD. The full diagnostic criteria can be found in DSM5. The new criteria are not without their critics [4-6], but overall, reflect the progress made in understanding the biological basis of autism.

ASD is recognized as a pervasive developmental disorder secondary to structural and functional changes in the brain that occur in the womb, and can be detected as early as a month after birth [7]. In the brain of a foetus that will be born with ASD, excess numbers of dysfunctional nerve cells are unable to form the correct synaptic scaffolding, leaving a brain that is large [8, 9], but out-of-sync. The reduced scaffolding leads to local over-connectivity within regions of the brain, and under-connectivity between the regions of the brain [10]. The majority of the abnormal cells and connections are within the frontal lobe, especially the dorsolateral prefrontal cortex and the medial prefrontal cortex [11], as well as the temporal lobes [12]. The cerebellum is also significantly linked to the autism spectrum [13]. There is also evidence that the amygdala and hippocampus, involved in emotional regulation and memory formation, are significantly effected in ASD [10].

There is also strong evidence for an over-active immune system in an autistic person compared to a neurotypical person, with changes demonstrated in all parts of the immune system, and the immune system in the brain as well as the rest of the body [14]. These immune changes contribute to the reduced ability of the brain to form new branches as well as develop new nerve cells or remove unnecessary cells.

There are a number of environmental and epigenetic associations linked to autism. These include disorders of folate metabolism [15, 16], pollutants [17], fever during pregnancy [18] and medications such as valproate and certain anti-depressants [19, 20] which are linked with an increase in autism[1]. Supplements such as folate [15, 21], omega-6 polyunsaturated fatty acids [22] and the use of paracetamol for fevers in pregnancy [18] have protective effects.

Although these factors are important, genes outweigh their influence by about 4:1. Twin studies suggest that between 70-90% of the risk of autism is genetic [23, 24]. Individual gene studies have only shown that each of the many single genes carry about a one percent chance each for the risk of autism [10]. It’s been proposed that the hundreds of genes linked with autism [10, 25] are not properly expressed (some are expressed too much, some not enough). The resulting proteins from the abnormal gene expression contribute to a different function of the cell’s machinery, altering the ability of a nerve cell to fully develop, and the ability of nerve cells to form connections with other nerve cells [26]. The effects are individually small, but collectively influential [24]. Autism is considered a complex genetic disorder involving rare mutations, complex gene × gene interactions, and copy number variants (CNVs) including deletions and duplications [27].

According to the Cognitive-Action Pathways model, the triad of the environment, epigenetics, and genes influence a number of processes that feed into our actions, thoughts, perceptions, personality and physiology. In ASD, the starting place is language processing.

New born babies from as young as two days old prefer listening to their own native language [28], which suggests that we are born already pre-wired for language. Auditory stimuli (sounds) are processed in the temporal lobes, including language processing. In neurotypical people, language processing is done predominantly on the left side, with some effect from the right side. But in people with autism, because of the abnormal wiring, there is only significant activity of the right temporal lobe [12]. Even more, from data so recent that it’s pending publication, loss of the processing of information of the left temporal lobe reversed the brains orientation to social and non-social sounds, like the sound of the babies name [7].

The change in the wiring of the left and right temporal lobes then alters the processing of language, specifically the social significance of language and other sounds. So already from a young age, people with autism will respond differently to environmental stimuli compared to a neurotypical person.

In the same way, the fusiform gyrus is part of the brain that processes faces. It’s quite specific to this task in a neurotypical person. However, the altered wiring of the brain in someone with autism causes a change, with different parts of the brain having to take up the load of facial processing [29].

Each time that one part of the brain can’t perform it’s normal function, the other parts take up the load. However that reduces the capacity for those parts of the brain to perform their own normal functions. In the case of the temporal lobes and the fusiform areas, this results in a reduced ability to discern subtleties especially those related to recognizing social cues. A neurotypical person and an autistic person could be standing in front of the same person, listening to the same words, and seeing the same facial expressions, but because of the way each persons brain processes the information, the perception of those words and cues can be completely different. This demonstrates how genetic changes can lead to changes in the perception of normal sensory input, resulting in differences in the physiological response, emotions, feelings, thoughts and actions, despite identical sensory input.

Physiology

The same changes that effect the cerebral cortex of the brain also have an influence on the deeper structures such as the hippocampus and the amygdala. The hippocampus is largely responsible for transforming working memory into longer term declarative memory. Studies comparing the size of the hippocampus in ASD children have shown an increase in size compared with typical developing children [30]. Combined with the deficits in the nerve cell structure of the cerebellum [13], autistic children and adults have a poor procedural memory (action learning, regulated by the cerebellum) and an overdeveloped declarative memory (for facts, regulated by the hippocampus). This has been termed the “Mnesic Imbalance Theory” [31].

The amygdala is also functionally and anatomically altered because of the changes to the nerve cells and their connections. The amygdala is larger in young children with ASD compared to typically developing children. As a result, young ASD children have higher levels of background anxiety than do neurotypical children [32]. It’s proposed that not only do ASD children have higher levels of background anxiety, they also have more difficulty in regulating their stress system, resulting in higher levels of stress compared to a neurotypical child exposed to the same stimulus [33].

Personality

On a chemical level, autism involves genes that encode for proteins involved in the transport of key neurotransmitters, serotonin and dopamine. Early evidence confirms the deficits of the serotonin and dopamine transporter systems in autism [34]. These neurotransmitters are integral to processing the signals of mood, stress and rewards within the brain, and as discussed in the last chapter, are significantly involved in the genesis of personality.

The abnormal neurotransmitter systems and the resulting deficiencies in processing stress and rewards signals contribute to a higher correlation of neuroticism and introverted personality styles in children with autism symptoms [35, 36].

So people with autism genes are going to process stress and rewards in a different way to the neurotypical population. As a result, their feelings, their thoughts and their resulting actions are tinged by the differences in personality through which all of the incoming signals are processed.

Actions

The underlying genes and neurobiology involved in autism also effect the final behavioural step, not only because genes and sensory input influence the personality and physiology undergirding our feelings and thoughts, but also because they cause physical changes to the cerebellum, the part of the brain involved in fine motor control and the integration of a number of higher level brain functions including working memory, behaviour and motivation [13, 37].

When Hans Asperger first described his cohort of ASD children, he noted that they all had a tendency to be clumsy and have poor handwriting [38]. This is a good example of how the underlying biology of ASD can effect the action stage independently of personality and physiology. The cerebellum in a person with ASD has reduced numbers of a particular cell called the Purkinje cells, effecting the output of the cerebellum and the refined co-ordination of the small muscles of the hands (amongst other things). Reduced co-ordination of the fine motor movements of the hands means that handwriting is less precise and therefore less neat.

A running joke when I talk to people is the notoriously illegible doctors handwriting. One of the doctors I used to work with had handwriting that seriously looked like someone had dipped a chicken’s toes in ink and let it scratch around for a while. My handwriting is messy – a crazy cursive-print hybrid – but at least it’s legible. I tell people that our handwriting is terrible because we spent six years at medical school having to take notes at 200 words a minute. But it might also be that the qualities that make for a good doctor tend to be found in Asperger’s Syndrome, so the medical school selection process is going to bias the sample towards ASD and the associated poor handwriting (Thankfully, those that go on to neurosurgery tend to have good hand-eye coordination).

But if your educational experience was anything like mine, handwriting was seen as one of the key performance indicators of school life. If your handwriting was poor, you were considered lazy or stupid. Even excluding the halo effect from the equation, poor handwriting means a student has to slow down to write neater but takes longer to complete the same task, or writes faster to complete the task in the allotted time but sacrificing legibility in doing so.

Either way, the neurobiology of ASD results in reduced ability to effectively communicate, leading to judgement from others and internal personal frustration, both of which feedback to the level of personality, molding future feelings, thoughts and actions.

Thought in ASD

By the time all the signals have gone through the various layers of perception, personality and physiology, they reach the conscious awareness level of our stream of thought. I hope by now that you will agree with me that thought is irrevocably dependent on all of the various levels below it in the Cognitive-Action Pathways Model. While thoughts are as unique as the individual that thinks them, the common genetic expression of ASD and the resulting patterns in personality, physiology and perception lead to some predictable patterns of thought in those sharing the same genes.

As a consequence of the differences in the signal processing, the memories that make their way to long-term storage are also going to be different. Memories and memory function are also different in ASD for other neurobiological reasons, as described earlier in the blog with the Mnesic Imbalance Theory.

Summary

The Cognitive-Action Pathways model is a way of describing the context of thoughts to other neurological processes, and how they all interact. It shows that conscious thoughts are one link of a longer chain of neurological functions between stimulus and action – simply one cog in the machine. The autistic spectrum provides a good example of how changes in genes and their expression can dramatically influence every aspect of a person’s life – how they experience the world, how they feel about those experiences, and how they think about them.

I used autism as an example because autism is a condition that’s pervasive, touching every aspect of a person’s life, and provides a good example of the extensive consequences from small genetic changes. But the same principles of the Cognitive-Action Pathways Model apply to all aspects of life, including conditions that are considered pathological, but also to our normal variations and idiosyncrasies. Small variations in the genes that code for our smell sensors or the processing of smells can change our preferences for certain foods just as much as cultural exposure. Our appreciation for music is often changed subtly between individuals because of changes in the structure of our ears or the nerves that we use to process the sounds. The genetic structure of the melanin pigment in our skin changes our interaction with our environment because of the amount of exposure to the sun we can handle.

So in summary, this blog was to set out the place that our thoughts have in the grand scheme of life. Thought is not the guiding or controlling force, it is simply a product of a number of underlying functions and variables.

References

  1. Mathew, S.K. and Pandian, J.D., Newer insights to the neurological diseases among biblical characters of old testament. Ann Indian Acad Neurol, 2010. 13(3): 164-6 doi: 10.4103/0972-2327.70873
  2. Wolff, S., The history of autism. Eur Child Adolesc Psychiatry, 2004. 13(4): 201-8 doi: 10.1007/s00787-004-0363-5
  3. WebMD: The history of autism. 2013 [cited 2013, August 14]; Available from: http://www.webmd.com/brain/autism/history-of-autism.
  4. Buxbaum, J.D. and Baron-Cohen, S., DSM-5: the debate continues. Mol Autism, 2013. 4(1): 11 doi: 10.1186/2040-2392-4-11
  5. Volkmar, F.R. and Reichow, B., Autism in DSM-5: progress and challenges. Mol Autism, 2013. 4(1): 13 doi: 10.1186/2040-2392-4-13
  6. Grzadzinski, R., et al., DSM-5 and autism spectrum disorders (ASDs): an opportunity for identifying ASD subtypes. Mol Autism, 2013. 4(1): 12 doi: 10.1186/2040-2392-4-12
  7. Pierce, K. Exploring the Causes of Autism – The Role of Genetics and The Environment (Keynote Symposium 11). in Asia Pacific Autism Conference. 2013. Adelaide, Australia: APAC 2013.
  8. Courchesne, E., et al., Evidence of brain overgrowth in the first year of life in autism. JAMA, 2003. 290(3): 337-44 doi: 10.1001/jama.290.3.337
  9. Shen, M.D., et al., Early brain enlargement and elevated extra-axial fluid in infants who develop autism spectrum disorder. Brain, 2013. 136(Pt 9): 2825-35 doi: 10.1093/brain/awt166
  10. Won, H., et al., Autism spectrum disorder causes, mechanisms, and treatments: focus on neuronal synapses. Front Mol Neurosci, 2013. 6: 19 doi: 10.3389/fnmol.2013.00019
  11. Courchesne, E., et al., Neuron number and size in prefrontal cortex of children with autism. JAMA, 2011. 306(18): 2001-10 doi: 10.1001/jama.2011.1638
  12. Eyler, L.T., et al., A failure of left temporal cortex to specialize for language is an early emerging and fundamental property of autism. Brain, 2012. 135(Pt 3): 949-60 doi: 10.1093/brain/awr364
  13. Fatemi, S.H., et al., Consensus paper: pathological role of the cerebellum in autism. Cerebellum, 2012. 11(3): 777-807 doi: 10.1007/s12311-012-0355-9
  14. Onore, C., et al., The role of immune dysfunction in the pathophysiology of autism. Brain Behav Immun, 2012. 26(3): 383-92 doi: 10.1016/j.bbi.2011.08.007
  15. Schmidt, R.J., et al., Maternal periconceptional folic acid intake and risk of autism spectrum disorders and developmental delay in the CHARGE (CHildhood Autism Risks from Genetics and Environment) case-control study. Am J Clin Nutr, 2012. 96(1): 80-9 doi: 10.3945/ajcn.110.004416
  16. Mbadiwe, T. and Millis, R.M., Epigenetics and Autism. Autism Res Treat, 2013. 2013: 826156 doi: 10.1155/2013/826156
  17. Volk, H.E., et al., Residential proximity to freeways and autism in the CHARGE study. Environ Health Perspect, 2011. 119(6): 873-7 doi: 10.1289/ehp.1002835
  18. Zerbo, O., et al., Is maternal influenza or fever during pregnancy associated with autism or developmental delays? Results from the CHARGE (CHildhood Autism Risks from Genetics and Environment) study. J Autism Dev Disord, 2013. 43(1): 25-33 doi: 10.1007/s10803-012-1540-x
  19. Rai, D., et al., Parental depression, maternal antidepressant use during pregnancy, and risk of autism spectrum disorders: population based case-control study. BMJ, 2013. 346: f2059 doi: 10.1136/bmj.f2059
  20. Christensen, J., et al., Prenatal valproate exposure and risk of autism spectrum disorders and childhood autism. JAMA, 2013. 309(16): 1696-703 doi: 10.1001/jama.2013.2270
  21. Suren, P., et al., Association between maternal use of folic acid supplements and risk of autism spectrum disorders in children. JAMA, 2013. 309(6): 570-7 doi: 10.1001/jama.2012.155925
  22. Lyall, K., et al., Maternal dietary fat intake in association with autism spectrum disorders. Am J Epidemiol, 2013. 178(2): 209-20 doi: 10.1093/aje/kws433
  23. Abrahams, B.S. and Geschwind, D.H., Advances in autism genetics: on the threshold of a new neurobiology. Nature Reviews Genetics, 2008. 9(5): 341-55
  24. Geschwind, D.H., Genetics of autism spectrum disorders. Trends Cogn Sci, 2011. 15(9): 409-16 doi: 10.1016/j.tics.2011.07.003
  25. Chow, M.L., et al., Age-dependent brain gene expression and copy number anomalies in autism suggest distinct pathological processes at young versus mature ages. PLoS Genet, 2012. 8(3): e1002592 doi: 10.1371/journal.pgen.1002592
  26. O’Roak, B.J., et al., Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature, 2012. 485(7397): 246-50 doi: 10.1038/nature10989
  27. Stankiewicz, P. and Lupski, J.R., Structural variation in the human genome and its role in disease. Annu Rev Med, 2010. 61: 437-55 doi: 10.1146/annurev-med-100708-204735
  28. Moon, C., et al., Two-day-olds prefer their native language. Infant behavior and development, 1993. 16(4): 495-500
  29. Pierce, K., et al., Face processing occurs outside the fusiform `face area’ in autism: evidence from functional MRI. Brain, 2001. 124(10): 2059-73 doi: 10.1093/brain/124.10.2059
  30. Schumann, C.M., et al., The amygdala is enlarged in children but not adolescents with autism; the hippocampus is enlarged at all ages. J Neurosci, 2004. 24(28): 6392-401 doi: 10.1523/JNEUROSCI.1297-04.2004
  31. Romero-Munguía, M.A.n., Mnesic Imbalance and the Neuroanatomy of Autism Spectrum Disorders, in Autism – A Neurodevelopmental Journey from Genes to Behaviour, Eapen, V., (Ed). 2011 Edition 1st, InTech. p. 425-44.
  32. Bal, E., et al., Emotion recognition in children with autism spectrum disorders: relations to eye gaze and autonomic state. J Autism Dev Disord, 2010. 40(3): 358-70 doi: 10.1007/s10803-009-0884-3
  33. Harms, M.B., et al., Facial emotion recognition in autism spectrum disorders: a review of behavioral and neuroimaging studies. Neuropsychol Rev, 2010. 20(3): 290-322 doi: 10.1007/s11065-010-9138-6
  34. Nakamura, K., et al., Brain serotonin and dopamine transporter bindings in adults with high-functioning autism. Arch Gen Psychiatry, 2010. 67(1): 59-68 doi: 10.1001/archgenpsychiatry.2009.137
  35. Austin, E.J., Personality correlates of the broader autism phenotype as assessed by the Autism Spectrum Quotient (AQ). Personality and Individual Differences, 2005. 38(2): 451-60
  36. Wakabayashi, A., et al., Are autistic traits an independent personality dimension? A study of the Autism-Spectrum Quotient (AQ) and the NEO-PI-R. Personality and Individual Differences, 2006. 41: 873-83
  37. De Sousa, A., Towards an integrative theory of consciousness: part 1 (neurobiological and cognitive models). Mens Sana Monogr, 2013. 11(1): 100-50 doi: 10.4103/0973-1229.109335
  38. Wing, L., Asperger’s syndrome: a clinical account. Psychol Med, 1981. 11(1): 115-29 http://www.ncbi.nlm.nih.gov/pubmed/7208735

[1] A word of caution: While there’s good evidence that valproate increases the risk of autism, and a possible link between some anti-depressants and autism, that risk has to be balanced with the risk to the baby of having a mother with uncontrolled epilepsy or depression, which may very well be higher. If you’re taking these medications and you are pregnant, or want to become pregnant, consult your doctor BEFORE you stop or change your medications. Work out what’s right for you (and your baby) in your unique situation.

Hold That Thought – Reappraising the work of Dr Caroline Leaf

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Hold That Thought Cover

It’s been more than a few late nights in the making, but sixteen months and 68,000 words on, the early release of my new book is now available on line through Smashwords: https://www.smashwords.com/books/view/466848.  Apple iBook, Kindle, and a number of other platforms will come online soon.

Dr Caroline Leaf is a South African communication pathologist and self-titled cognitive neuroscientist, now based in the USA.  This book is an in-depth look at the current scientific understanding of thought, stress, free will and choice, as well as a thorough critique of Dr Leaf’s foundational teachings and the evidence she provides as proof of her hypotheses.

In the coming few days, I will make the text of the book available on this blog as well.  If you have any questions, send them in.  I’m happy to put up a FAQ page.  And as always, I’m happy to answer any legitimate criticism of my work, so long as it’s constructive and evidence based, not personal.

And as always, Dr Leaf herself is welcome to comment.  Indeed, I would value her feedback, and I’m sure any comment she wishes to make would be welcome by the Christian community as a whole.

The Discovery of Aspie

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The Discovery of Aspie

Carol Gray and Tony Attwood

Some of this century’s best discoveries were creative and determined efforts to answer “What if…?” questions. What if people could fly? What if electrical energy could be harnessed to produce light? What if there was an easily accessible, international communication and information network? The answers have resulted in permanent changes: air travel, light bulbs, the Internet. These discoveries have rendered their less effective counterparts to relative extinction from use: gone is the stagecoach, gas lighting, and multi-volume hardbound encyclopedias. These improvements remind us of our option and ability to experiment, re-mold, re-think, and imagine. In that spirit, this article submits a new question: What if Asperger’s Syndrome was defined by its strengths? What changes might occur?

Moving from diagnosis to discovery
Making any diagnosis requires attention to weaknesses, the observation and interpretation of signs and symptoms that vary from typical development or health. Certainly it would be a little disarming to visit a doctor for a diagnosis, only to have her inquire, “So, what feels absolutely great?” The DSM 5 (American Psychiatric Association, 2013) assists in the identification of a variety of disorders. It is used by psychiatrists and psychologists to match observed weaknesses, symptoms and behaviors to text. In DSM 5 Autism Spectrum Disorder, which includes Asperger’s Syndrome, is identified by specific diagnostic criteria, a constellation of observed social and communication characteristics. Once diagnosed, a child or adult with the diagnosis is referred to with politically correct “people first” terminology, i.e. a person with Autistic Spectrum Disorder.

Unlike diagnosis, the term discovery often refers to the identification of a persons strengths or talents. Actors are discovered. Artists and musicians are discovered. A great friend is discovered. These people are identified by an informal combination of evaluation and awe that ultimately concludes that this person – more than most others – possesses admirable qualities, abilities, and/or talents. It’s an acknowledgment that, “… you know, he’s better than me at …”. In referring to people with respect to their talents or abilities, politically correct “people first” terminology is not required; labels like musician, artist, or poet are welcomed and considered complimentary.

If Asperger’s syndrome was identified by observation of strengths and talents, it would no longer be in the DSM 5, nor would it be referred to as a syndrome. After all, a reference to someones special strengths or talents does not use terms with negative connotations (it’s artist and poet, not Artistically Arrogant or Poetically Preoccupied), nor does it attach someones proper name to the word syndrome (it’s vocalist or soloist, not Sinatra’s Syndrome).

New ways of thinking of thinking often lead to discoveries that consequently discard their outdated predecessors. It could result in typical people rethinking their responses and rescuing a missed opportunity to take advantage of the contributions of those with autism to culture and knowledge.

Discovery Criteria for Aspergers Syndrome, by Attwood and Gray

A. A qualitative advantage in social interaction, as manifested by a majority of the following:

1. peer relationships characterised by an absolute loyalty and impeccable dependability
2. free of sexist, “age-ist”, or cultural biases; ability to regard others at “face value”
3. speaking one’s mind irrespective of social context or adherence to personal beliefs
4. ability to personal theory or perspective despite conflicting evidence
5. seeking an audience or friends capable of: enthusiasm for unique interests and topics; consideration of details; spending time discussing a topic that may not be of primary interest to others
6. listening without continual judgement or assumption
7. Interested primarily in significant contributions to conversation; preferring to avoid “ritualistic small talk” or socially trivial statements and superficial conversation
8. seeking sincere, positive, genuine friends with an unassuming sense of humour.

B. Fluent in autism, a social language characterised by at least three of the following:

1. a determination to seek the truth
2. conversation free of hidden meaning or agenda
3. advanced vocabulary and interest in words
4, fascination with word-based humour, such as puns
5. advanced use of pictorial metaphor

C. Cognitive skills characterised by at least four of the following:

1. strong preference for detail
2. original, often unique perspective in problem solving
3. exceptional memory and/or recall of details often forgotten or disregarded by others, for example: names, dates, schedules, routines
4. avid perseverance in gathering and cataloguing information on a topic of interest
5. persistence of thought
6. encyclopaedic or digital knowledge of one or more topics
7. knowledge of routines and a focused desire to maintain order, consistency and accuracy
8. clarity of values/decision making unaltered by political or financial factors

D. Additional possible features

1. acute sensitivity to specific sensory experiences and stimuli, for example: hearing, touch, vision, and/or smell
2. strength in individual sports and games, particularly those involving endurance, visual accuracy or intellect, including rowing, swimming, bowling or chess
3. “social unsung hero” with trusting optimism: frequent victim of social weakness and prejudices other others, while steadfast in the belief of the possibility of genuine friendship
4. increased probability over general population of attending university after high school
5. often take care of others outside the range of typical development

Perhaps we have discovered the next stage of human evolution?

(c) Tony Attwood and Carol Gray 2014 All Rights Reserved
Republished with permission from the author (TA)

Autism Series 2013 – Part 3: The Autism “Epidemic”

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Weintraub, K., Autism counts. Nature, 2011. 479(7371): 22-4.

Weintraub, K., Autism counts. Nature, 2011. 479(7371): 22-4.

It seems that autism is on the rise.  Once hidden away in institutions or just dismissed as odd, society is now faced with a condition that it is yet to come to grips with.  Some out in the community believe that it must be a toxin, or vaccines or mercury.  Others accuse doctors of simply giving in to the unreasonable demands of pushy parents to defraud the system of money – “Things have reached the point these days where any kid that’s not a charming little extrovert will be accused of being, ‘on the spectrum.’”[1]

So is there an epidemic of kids who are “not charming little extroverts”?  It depends on who you ask.

Take, for example, two articles written in the year 2000.  In the first, titled “The autism epidemic, vaccinations, and mercury”, Rimland said,

“While there are a few Flat-Earthers who insist that there is no real epidemic of autism, only an increased awareness, it is obvious to everyone else that the number of young children with autism spectrum disorders (ASD) has risen, and continues to rise, dramatically.”[2]

The other, written by Professor Tony Attwood, a world authority on Aspergers Syndrome, said,

“… is there an epidemic of people being diagnosed as having Asperger’s Syndrome? At present we cannot answer the question, as we are unsure of the diagnostic criteria, the upper and lower levels of expression and the borders with other conditions. Nevertheless, we are experiencing a huge increase in diagnosis but this may be the backlog of cases that have been waiting so long for an explanation.”[3]

I don’t think it’s very often Prof Attwood is lumped with ‘flat-earthers’.  But you can see the change in perspective from one side looking objectively to the other who need for there to be an “epidemic” of autism in order to strengthen their case.

So who’s right?  To see if this autism “epidemic” hypothesis has any real merit, we need to delve into some numbers.

First, some basic epidemiology – because part of the confusion in looking at the autism numbers is defining exactly what those numbers represent.  Here are some important epidemiology terms from the “Physicians Assistant Exam for Dummies”[4]:

Incidence: For any health-related condition or illness, incidence refers to the number of people who’ve newly acquired this condition.

Prevalence: Prevalence concerns the number of people who have this condition over a defined time interval.

Most autism figures are for prevalence, or often more specifically, point prevalence – “the number of people who have this condition at any given point in time.”

The other thing to remember from my last blog is that initially autism was only diagnosed on the strict rules of Kanner, and was considered to be a single disease caused mainly by bad parenting [5].  So through the 1960’s and 1970’s, only the most severe children were diagnosed as having autism because the high-functioning autism would not have met Kanners criteria, and even if they did, most parents didn’t want the label for fear of the social stigma.

So then, what are the numbers?  The early prevalence was estimated to be less than 5/10,000 or 1 in 2000[6], although in surveys done after 1987, the numbers began to rise past 7/10,000[7].  In the 1990’s, Autism prevalence climbed into the teens and the latest prevalence has been documented for autism is 20.6/10,000[7].

But that’s only about 1 in 485.  The CDC estimated a prevalence of 1 in 88 (113/10,000)[8].  Where did the other 400 people go?

This is where the importance of definitions is highlighted.  Autism is considered part of a spectrum, and at the time of the surveys reviewed by Fombonne, DSM III then DSM IV considered conditions like Pervasive Developmental Disorder and then Aspergers Disorder to be part of that spectrum.  Adding in the rate of PDD and you have a figure of 57.7/10,000 and adding in Aspergers gives you a combined rate of 63.7/10,000, or 1 in 157 people surveyed[7].

And yet even then, who you measure and how you measure makes much more of a difference, because a recent, rigorous study targeting all 7 to 12 year old children in a large South Korean populous found a prevalence of 2.64%, which is 264/10,000 or 1 child in every 38.  The authors noted that, “Two-thirds of ASD cases in the overall sample were in the mainstream school population, undiagnosed and untreated. These findings suggest that rigorous screening and comprehensive population coverage are necessary to produce more accurate ASD prevalence estimates and underscore the need for better detection, assessment, and services.”[9]

So if there has been a fifty-fold change in prevalence (from 5 to 264 cases per 10,000 people) in just thirty years, isn’t that an epidemic?

Well, no.  As much as some might ignorantly deny it, there is no real evidence for it.  Remember the definitions from the “Physicians Assistant Exam for Dummies”[4]:

Incidence: For any health-related condition or illness, incidence refers to the number of people who’ve newly acquired this condition.

Prevalence: Prevalence concerns the number of people who have this condition over a defined time interval.

It’s the rapid rise in the number of new cases diagnosed that defines an epidemic, which is the incidence and not the prevalence[10].  While the prevalence has changed a lot, the incidence has been fairly stable.  From Nature, “Christopher Gillberg, who studies child and adolescent psychiatry at the University of Gothenburg in Sweden, has been finding much the same thing since he first started counting cases of autism in the 1970s. He found a prevalence of autism of 0.7% among seven-year-old Swedish children in 1983 and 1% in 1999. ‘I’ve always felt that this hype about it being an epidemic is better explanation’, he said.”[11]

Fombonne agrees. “As it stands now, the recent upward trend in estimates of prevalence cannot be directly attributed to an increase in the incidence of the disorder.”[7]  He said later in the article that a true increase in the incidence could not be ruled out, but that the current epidemiological data which specifically studied the incidence of autism over time was not strong enough to draw conclusions.

While there’s no epidemic, there is the real issue of the genuinely increasing prevalence.  Why the rise in those numbers?  Fombonne went on to explain, “There is good evidence that changes in diagnostic criteria, diagnostic substitution, changes in the policies for special education, and the increasing availability of services are responsible for the higher prevalence figures.”[7]  Nature published a graph from the work of Professor Peter Bearman, showing that 54% of the rise in the prevalence of autism could be explained by the refining of the diagnosis, greater awareness, an increase in the parental age, and clustering of cases in certain geographic areas.

Weintraub, K., Autism counts. Nature, 2011. 479(7371): 22-4. (Adapted from King, M. and Bearman, P., Diagnostic change and the increased prevalence of autism. International Journal of Epidemiology, 2009. 38(5): 1224-34 AND King, M.D. and Bearman, P.S., Socioeconomic Status and the Increased Prevalence of Autism in California. Am Sociol Rev, 2011. 76(2): 320-46.)

Weintraub, K., Autism counts. Nature, 2011. 479(7371): 22-4. (Adapted from King, M. and Bearman, P., Diagnostic change and the increased prevalence of autism. International Journal of Epidemiology, 2009. 38(5): 1224-34 AND King, M.D. and Bearman, P.S., Socioeconomic Status and the Increased Prevalence of Autism in California. Am Sociol Rev, 2011. 76(2): 320-46.)

From Nature: “The fact that he still cannot explain 46% of the increase in autism doesn’t mean that this ‘extra’ must be caused by new environmental pollutants, Bearman says. He just hasn’t come up with a solid explanation yet. ‘There are lots of things that could be driving that in addition to the things we’ve identified,’ he says.”[11]

There is no autism epidemic, just medical science and our population realising just how common autism is as the definition becomes more refined, people become more aware, and some other biosocial factors come into play.

What can we take from the numbers?  That we’re being overtaken by Sheldon clones?  That soon there will be no more “charming little extroverts”?  If the CDC figure is accurate, then one person in every hundred is on the spectrum, so the world is hardly being overtaken by autism.  But the take home message is that Autism Spectrum Disorders are more common that we ever thought, and there are more people on the spectrum “hiding in plain sight”.  If the study from South Korea is accurate then one person in every thirty-eight is on the spectrum, but two thirds of them are undiagnosed.

Should there be more funding, more resources, or more political representation for people on the spectrum?  Perhaps, although the public and research funds are not unlimited, and other health concerns should also be treated fairly.  But since autism is life long and impacts on so many areas of mental health and education, understanding autism and managing it early could save governments billions of dollars into the future.

Rather, I think that the climbing prevalence of ASD is a clarion call for understanding and tolerance.  If we learn to tolerate differences and practice discretionary inclusion, then both the autistic and the neuro-typical can benefit from the other.  That’s a world which we’d all like to live.

REFERENCES

1. Bolt, A. If the autistic don’t get full cover, where’s the money going? 2013  2013 May 11]; Available from: http://blogs.news.com.au/heraldsun/andrewbolt/index.php/heraldsun/comments/if_the_autistic_dont_get_full_cover_wheres_the_money_going/.

2. Rimland, B., The autism epidemic, vaccinations, and mercury. Journal of Nutritional and Environmental Medicine, 2000. 10(4): 261-6.

3. Attwood, T., The Autism Epidemic: Real or Imagined, in Autism Aspergers Digest2000, Future Horizons Inc: Arlington, TX.

4. Schoenborn, B. and Snyder, R., Physician Assistant Exam For Dummies. 2012: John Wiley & Sons.

5. Pitt, C.E. Autism Series 2013 – Part 2: The History Of Autism. 2013  [cited 2013 2013 Aug 15]; Available from: https://cedwardpitt.com/2013/08/15/autism-series-2013-part-2-the-history-of-autism/.

6. Rice, C.E., et al., Evaluating Changes in the Prevalence of the Autism Spectrum Disorders (ASDs). Public Health Reviews. 34(2).

7. Fombonne, E., Epidemiology of pervasive developmental disorders. Pediatric research, 2009. 65(6): 591-8.

8. Baio, J., Prevalence of Autism Spectrum Disorders: Autism and Developmental Disabilities Monitoring Network, 14 Sites, United States, 2008. Morbidity and Mortality Weekly Report. Surveillance Summaries. Volume 61, Number 3. Centers for Disease Control and Prevention, 2012.

9. Kim, Y.S., et al., Prevalence of autism spectrum disorders in a total population sample. American Journal of Psychiatry, 2011. 168(9): 904-12.

10. “Epidemic vs Pandemic”. 2013  [cited 2013 Sept 03]; Available from: http://www.diffen.com/difference/Epidemic_vs_Pandemic.

11. Weintraub, K., Autism counts. Nature, 2011. 479(7371): 22-4.

 

Autism Series 2013 – Part 2: The History Of Autism

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“We can chart our future clearly and wisely only when we know the path which has led to the present.” Adlai E. Stevenson

I always thought history was boring, and I must admit, If you want to put me to sleep, start reading early Australian history to me. “Convicts … first fleet … zzzzzz.”

But as Stevenson wrote, the key to the future is the past. With autism, I don’t want to see a future as checkered as its past. In this series of essays, I want to help our community see a future in which autism is recognised and appreciated for its strengths. To properly lay the groundwork, I want to look at the history of autism. This will help provide context for the current understanding of autism, which will then give a framework for understanding the autistic person, and for a glimpse into the future as new research unfolds.

The autistic spectrum has been present for as long as humans have. But to our knowledge, one of the first specific descriptions of someone who met the characteristics of the autistic spectrum was in the mid 1700’s. In 1747, Hugh Blair was brought before a local court to defend his mental capacity to contract a marriage. Blair’s younger brother successfully had the marriage annulled to gain Blair’s share of inheritance. The recorded testimony describes Blair as having the classic characteristics of autism, although the court described him at the time as lacking common sense and being afflicted with a “silent madness”.[1]

Isolated case reports appeared sporadically in medical journals. John Haslam reported a case in 1809, although with modern interpretation, the child probably had post-encephalitis brain damage rather than true autism. Henry Maudsley described a case of a 13 year old boy with Aspergers traits in 1879. There were no other reports of children with autism in the early literature, although at the turn of the 19th century, Jean Itard reported on the case of an abandoned child found roaming in the woods like a wild animal. This child, called Victor, displayed many features of autism, although he may have simply had a speech disorder. Either diagnosis was obscured by the effects of severe social isolation.[1]

Others described syndromes which shared autistic features, but without describing autism itself. The names given to each syndrome reveals how autistic features were regarded in the 19th century: Dementia Infantalis, Dementia Praecocissima, Primitive Catatonia of Idiocy.[1]

Around 1910, Eugen Bleuger was a Swiss psychiatrist who was researching schizophrenic adults (and as an aside, Bleuger was the person to first use the term ‘schizophrenia’). Bleuger used the term ‘autismus’ to refer to a particular sub group of patients with schizophrenia, from the Greek word “autos,” meaning “self”, describing a person removed from social interaction, hence, “an isolated self.”[2]

But it wasn’t until the 1940’s that the modern account of autism was articulated, when two psychiatrists in different parts of the world first documented a handful of cases. Leo Kanner documented eleven children who, while having variable presentations, all shared the same pattern of an inability to relate to people, a failure to develop speech or an abnormal use of language, strange responses to objects and events, excellent rote memory, and an obsession with repetition and sameness[3].

Kanner thought that the condition, which he labelled ‘infantile autism’, was a psychosis[1] – in the same family of disorders as schizophrenia, although separate to schizophrenia itself[2]. He also observed a cold, distant or anti-social nature of the parents relationship towards the child or the other parent. He thought this may have contributed (although he added that the traits of the condition were seen in very early development, before the parents relationship had time to make an impact)[3]. True to the influence of Freud on early 20th century psychiatry, Kanner said of the repetitive or stereotyped movements of autistic children, “These actions and the accompanying ecstatic fervor strongly indicate the presence of masturbatory orgastic gratification.”[3]

Despite the otherwise reserved, cautious discussion of possible causes of this disorder, the link with schizophrenia and “refrigerator mothers” took hold in professional and lay communities alike. In the 1960s and 70s, treatments for autism focused on medications such as LSD, electric shock, and behavioral change techniques involving pain and punishment. During the 1980s and 90s, the role of behavioral therapy and the use of highly controlled learning environments emerged as the primary treatments for many forms of autism and related conditions.[2]

Unbeknown to Kanner, at the same time as his theory of ‘infantile autism’ was published in an English-language journal, a German paediatrician called Hans Asperger published a descriptive paper of four boys in a German language journal. They all shared similar characteristics to the descriptions of Kanner’s children, but were functioning at a higher level. They shared some aggression, a high pitched voice, adult-like choice of words, clumsiness, irritated response to affection, vacant gaze, verbal oddities, prodigious ability with arithmetic and abrupt mood swings. Asperger was the first to propose that these traits were the extreme variant of male intelligence[4].

But the full impact of Asperger wasn’t felt until 1981, when British psychiatrist Lorna Wing translated Aspergers original paper into English. By this time, autism had become a disorder of its own according to the DSM-III, the gold-standard reference of psychiatric diagnosis, but it was still largely defined by the trait of profound deficit. Aspergers description of a ‘high-functioning’ form of autism resonated amongst the autism community, and a diagnosis of Aspergers Syndrome became formally recognised in the early 1990’s with the publication of the DSM-IV.

The most recent history of autism comes in two parts. The first was the revision of the DSM-IV. For the first time, rather than two separate diagnoses, Autism and Aspergers have been linked together as a spectrum and collectively known as the Autism Spectrum Disorders (although autism self-advocates prefer the term ‘conditions’ to ‘disorders’).

The second part is a highly controversial chapter that will stain the history of autism research and scientific confidence, into the next few decades. Chris Mooney, in a piece for Discover Magazine, sums it up nicely:

“The decade long vaccine-autism saga began in 1998, when British gastroenterologist Andrew Wakefield and his colleagues published evidence in The Lancet suggesting they had tracked down a shocking cause of autism. Examining the digestive tracts of 12 children with behavioral disorders, nine of them autistic, the researchers found intestinal inflammation, which they pinned on the MMR (measles, mumps, and rubella) vaccine. Wakefield had a specific theory of how the MMR shot could trigger autism: The upset intestines, he conjectured, let toxins loose in the bloodstream, which then traveled to the brain. The vaccine was, in this view, effectively a poison.”[5]

Inflamed by a post-modern distrust of science and a faded memory of what wild-type infectious diseases did to children, the findings swept through the internet and social media and lead to a fall in vaccination rates (from about 95% to below 80% at its lowest)[6].

But the wise words, “Be sure your sins will find you out”, still hold true, even in modern science. In 2010, Wakefield was found guilty of Serious Professional Misconduct by the British General Medical Council, and was struck off the register of medical practitioners in the UK. In the longest ever hearing into such allegations, the GMC considered his conduct surrounding the research project, the medical treatment of his child subjects, and his failure to disclose his various conflicts of interest to be dishonest and professionally and clinically unethical[7]. There is evidence that he also selectively chose his subjects to confound the results, misrepresented the time course of their symptoms related to the vaccinations, misrepresented their diagnosis of autism, and altered the reports of their bowel tests[8, 9].

For the record, this isn’t a comment on the science of Wakefield’s rise and fall, but the history. I am not suggesting that the proposed autism/vaccination link should be discounted solely on the basis of Wakefield’s scientific fraud. Rigorous science has already done that. The science for and against the proposed link between autism and vaccinations deserves special attention, and will be discussed in a future post. Rather, lessons need to be learned from what is one of the most destructive cons in the recent history of medicine.

The losers of this hoax are twofold. Thousands of children have unnecessarily suffered from preventable infectious disease because of a fear of vaccines that has turned out to be unfounded, and those who actually have autism miss out on actual funding because it was syphoned off into Wakefield’s pockets and into research disproving his rancid theory. As the editorial in the BMJ stated, “But perhaps as important as the scare’s effect on infectious disease is the energy, emotion, and money that have been diverted away from efforts to understand the real causes of autism and how to help children and families who live with it.”[6]

As with all good history, there are lessons for the future. Autism is still largely misunderstood. The vacuum of definitive scientific knowledge is slowly being filled, gradually empowering people with autism and the people that interact with them to truly understand and communicate. Each breakthrough and revision of the diagnosis has lead to more sophisticated and more humane ways of living with autism. But there is still a need for caution – people will use the gaps in knowledge and the pervasive distress that can come from the diagnosis, to manipulate and exploit for their own ends.

I’ll continue with the series in the next week or so, looking at the modern “epidemic” of autism.

REFERENCES:

1. Wolff, S., The history of autism. Eur Child Adolesc Psychiatry, 2004. 13(4): 201-8.
2. WebMD: The history of autism. 2013  [cited 2013 August 14]; Available from: http://www.webmd.com/brain/autism/history-of-autism.
3. Kanner, L., Autistic disturbances of affective contact. Acta Paedopsychiatr, 1968. 35(4): 100-36.
4. Draaisma, D., Stereotypes of autism. Philos Trans R Soc Lond B Biol Sci, 2009. 364(1522): 1475-80.
5. Mooney, C., Why Does the Vaccine/Autism Controversy Live On?, in Discover2009, Kalmbach Publishing Co: Waukesha, WI.
6. Godlee, F., et al., Wakefield’s article linking MMR vaccine and autism was fraudulent. BMJ, 2011. 342: c7452.
7. General Medical Council. Andrew Wakefield: determination of serious professional misconduct, 24 May 2010. http://www.gmc-uk.org/Wakefield_SPM_and_SANCTION.pdf_32595267.pdf
8. Deer, B., How the case against the MMR vaccine was fixed. BMJ, 2011. 342: c5347.
9. Deer, B., More secrets of the MMR scare. Who saw the “histological findings”? BMJ, 2011. 343: d7892.

Autism Series 2013; Part 1 – Why it matters.

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What do you think of when you think about autism?  Is it a TV character like Jake, from Kiefer Sutherland’s recent series ‘Touch’, or perhaps Sheldon from ‘The Big Bang Theory’?  Or is it a movie character like the savant that Dustin Hoffman played in ‘Rain Man’? They are common stereotypes, but they only depict a tiny fraction of the autism that is all around us every day.  Chances are, you would run into people every day who have autism.  Would you be able to pick them?

The current point prevalence rate of autism is given by various international health bodies including the World Health Organization, as one person in a hundred.  With a prevalence of one percent of the population as having autism, you would think it would be better known, better dealt with by teachers, better handled by public officials, better screened and managed by health workers, and better resourced in terms of assistance to families and in terms of research dollars.

But while funding and recognition are important, the greatest impact that the lack of autism awareness has is the human cost.  It is the cost that can’t be measured in terms of dollars, caused by the maligned stigma that having autism brings.

Autism at the less severe end, what used  to be called ‘high functioning’ autism, or what I prefer to classify as (the now unofficial diagnosis of) Aspergers Syndrome, doesn’t make a person look that much different on the outside.  But it makes their behaviour somewhat odd to everyone else.  They have quirks.  They have strange mannerisms.  They have rigid ways of doing things.  They have very narrow interests.  They misread social cues.

“Normal” people don’t like odd.  Especially children.  If you don’t fit in to their particular group-think view of the world, their intolerant tormenting can be merciless and unrelenting.  Some people never grow up though, and many adults with autism can be marginalised by their adult peers. Every barb, joke and isolating experience eroding at the soul of a person with autism until there is nothing left.

This is the most destructive of all. It is death by a thousand insults.

I am writing this series of blogs because I want to help assist in whatever way I can to reduce the ignorance surrounding autism.  There is still so much ignorance out there – simple ignorance because the message is still diffusing through our social networks, and  obstinate ignorance, by people who use pseudoscientific scare mongering to promote their views, or promote bogus treatments for the sole purpose of taking advantage of the desperation of some of those who live with autism.

No matter which form of ignorance is out there, ignorance is ignorance and it does the same damage.  It needs to be stopped.

When I was a little boy, I was odd.  It took me a while before I started talking.  I had an obsession with vacuum cleaners and watches.  I was the misfit, or the loner.  I was incessantly bullied in the latter half of primary school and almost all the way through high school.  I didn’t want to go out and be with large groups of other kids.  My parents made me go to marshall arts training, cub scouts, church groups and school holiday excursions.

I hated those social outings.  I had huge anxiety being in these large groups.  Even when I wasn’t being mocked or belittled, I still felt anxious because I didn’t naturally fit in with the other kids.  The leaders of the group would go out of their way to include me but that had the opposite effect of highlighting how much of a social misfit I was.  The anxiety was disabling when I was in middle high school.

Thankfully I was smart, mainly in maths and science.  Academic achievement was my only positive, so I took refuge in studying.  I graduated in the top percentile in my state, and made it into medical school.  I did a whole medical degree, five years in hospitals including several in subspecialty paediatrics, and a fellowship in General Practice, and another eight years of GP experience, before my son was diagnosed as being on the autistic spectrum.

Despite years of medical training, It’s only been since my son’s diagnosis that I have been realising just how much of my quirky behaviour and social dysfunction was due to the fact that I’m on the spectrum too.  All those years, I thought I was retarded, socially incompetent, a freak.  All those years, I was bullied, harassed and made to think I was stupid, just because I didn’t naturally understand the unspoken social codes , but no one explained them to me.

That’s nearly forty years of living with self-doubt, low self-esteem, low self-confidence, and various mental health issues, because I never knew, because no one else knew, because of ignorance and intolerance.

So it stings when I hear people spread mistruths about ASD, and it pains me when the mistruths are spread by people who should know better.  It makes me mad when the mistruths come from self-titled ‘experts’.

I don’t want my son going through the same stigma and denigration, or anyone else on the spectrum for that matter.  The truth about autism – what it is, what it is caused by, and what strengths autism bestows, need to hold sway so that death by a thousand insults is no longer tolerable in our progressive society.

I will publish further blog posts over the coming days to weeks on what autism is, on why it seems to be increasing, and the latest scientific evidence on what autism may be caused by.  I will devote a whole blog (or two) to the misinformation surrounding vaccines and autism.  So stay tuned.