PTSD and autism

'When I'm asleep, dreaming and lulled and warm, they come, the homeless ones, the noiseless dead'. The opening line from the poem 'Sick Leave' by the World War I poet Siegfried Sassoon. Sassoon, alongside other poets of the time, famously depicted the true horror of the trenches of the Great War in his various writings after himself being hospitalised for 'shell shock'.

In modern times, the term 'shell shock' and it's various presentations such as the thousand yard stare, whilst not forgotten, has been superseded by quite a few other descriptions; most notably that of post-traumatic stress disorder (PTSD), reflecting the increasing interest of psychology and psychiatry in the topic. Whilst still primarily associated with war and conflict, PTSD has found its way into the various diagnostic texts of the ICD and DSM, including proposals for a revised PTSD diagnosis in preschool children in the upcoming DSM V revisions. The core notion being that witnessing an act or threat of an act of violence leads to a 'replaying' of said event and the onward effects of heightened arousal as a consequence. The DSM V proposals also seek to include a sexual element to the trigger factors, mindful of the effects that such experiences under certain circumstances can have.

Down the years there has been some discussion about PTSD co-morbid to autism. Given that the world still witnesses war and conflict, it is perhaps implied that during such actions, people with autism will invariably be caught up either as civilians or even military personnel during such occasions. Although perhaps slightly going off at a tangent, autism and the military has been discussed at some length from various points of view; be it parents serving in the military or even controversy regarding the suggestion that the military might be a possible career path for those towards the more able end of the autism spectrum. Whether during conflict or during the course of day-to-day life such as the recent devastation in the States, people with autism are therefore at similar risk as everyone else to witness events that might have profound influence on their health and well-being.

The literature on co-occurence of PTSD in cases of autism is currently quite sparce. Most comes from either personal case reports or more speculative literature on a possible association, with individual study following response to natural disasters added. I was drawn to this article which speculated on the potential effects that the use of certain restraint procedures and/or aversives might produce in cases of autism. Reading through it, my mind also drifted towards the recent actions uncovered in a residential setting here in the UK which was home to some adults with autism. The reporter describes how he was 'haunted' by the scenes he witnessed - what about the people who experienced such acts?

This abstract from the IMFAR 2009 conference potentially ties into the same issue. Although only an abstract, it details how a young child with an autism spectrum disorder also presented with PTSD as a result of multiple treatment for retinoblastoma. The study highlights the difficulties in disentangling what is autism and what is PTSD and also perhaps highlights how, with a little attention, the 'layers' of autism can be peeled away diagnostically to reveal other co-morbidities, in this case PTSD.

In my continuing quest to demonstrate how autism as a diagnosis does not seem to be protective of other conditions and complaints, I do think we have to be very careful when proceeding down the PTSD diagnostic path. PTSD, like many diagnoses, share certain characteristics with autism irrespective of any co-morbidity being present or not. Indeed, coupled with the presence of problems with communication seen in many cases, we do need to ensure that we don't start to enter the rather shaky ground made from other judgements.

I finish with a link to a poem by Wilfred Owen on the War to end all Wars.

Twins and autism: a response

A very short post this one, I promise.

Following the revelations yesterday that the genetic contribution to autism 'might' have been inflated, there has been quite a lot of scientific and media interest in this whole debate. I say media interest, but here in the UK we have heard diddly squat so far about the revelations that identical twins appear to show a not so high rate of autism than fraternal twins. I don't know why.

Anyway, I would like to draw attention to this opinion piece published in the Archives of General Psychiatry (online) by Dr Peter Szatmari of McMaster University and his take on the implications of the Hallmayer paper. Szatmari is no stranger to autism research having published extensively with papers such as this one and this one.

He is fairly candid in his opinions on the 'game changer' that was the Hallmayer paper and the implications for the early concordance studies such as that from Folstein and Rutter in 1977, asking "where did the heritability go?". Whilst I wouldn't like to give a definitive answer to this complicated question, I would perhaps suggest that we should start by looking at the participant numbers included in the Folstein paper - 21 twin pairs. That's all. Forty-two participants. That is pretty much what the whole 'genetics are king' argument was originally based on. I know that this study has been replicated in other participant groups but be under no disillusion that the 1977 paper cast the die.

Many, many people have been talking about the variable relationship between genes and environment in autism down the years. I'd like to think that once the dust has settled and further corroborative work completed (part of which should be appearing in the journal Pediatrics soon), autism research can finally move out of its 'obsession' with purely genetic models of autism and start moving itself into that brave new world in which genes work in unison with environment. At least so no more parents enter a Doctors office to be told blanket that 'autism is genetic' and nothing else.

Genes overestimated, environment underestimated in autism?

Only a short post this one in response to an article which has just appeared in the Archives of General Psychiatry titled: Genetic heritability and shared environmental factors among twin pairs with autism. A copy of the full-text paper can be found here.

For many years, genes have perhaps received the lion's share of attention when it comes to autism and autism research. Studies conducted in the late to mid 1990's and early noughties estimated a significant genetic loading for autism based on studies of the rates of autism in monozygotic and dizygotic twin pairs; that is twins derived from one egg and those derived from separate eggs. A few choice papers detailing such observations can be found here and here.

Whilst genes are important for autism (and nearly every other condition), there has been a bit of a sea-change in recent years away from notions of an 'autism gene' or genes to something a little more complex with regards to genes and environment. If you don't believe me, have a look at my various posts on CNVs and mutations studied with autism in mind.

This recent paper from Hallmayer and colleagues, corroborates the gene-environment interaction and indeed, perhaps swings the pendulum from genes to more of an environmental effect in terms of risk of developing autism. The collaborative study is a detailed one based in our old autism research favourite place California, where data from a very well-defined autism group, autism and broader autism using ADI-R and ADOS, were examined based on their monozygotic or dizygotic membership in order to ascertain whether autism rates were higher in identical twins than fraternal twins.

The study and findings: of the 202 twin pairs looked at (N=404), 242 twins reached the criteria for autism spectrum disorder (60%), of whom 171 twins met the stricter criteria for autism. Based on these data, 192 twin pairs were submitted for genetic analysis to ascertain zygosity, that is whether they were identical or fraternal twins based on various markers. Fifty-four pairs were found to be monozygotic (28%) and 138 were dizygotic (72%). There are other findings based on the breakdown of specific diagnosis and gender, but I perhaps need a little longer to go into those.

What this means is that if autism was a strongly genetic condition, one would expect that there would be a lot more twins with autism derived from the same egg, the same genetic material, than those derived from separate eggs. The fact that those from separate eggs showed a high-ish rate of autism implies that whilst genes might be important, there is perhaps also a significant contribution from some environmental factor/s in connection to a diagnosis of autism or autism spectrum disorder.

The authors do caution about the findings and issues such as their applicability to all diagnoses of autism across the various geographies and ethnicities. I have posted entries about some of these potential environmental factors previously (here and here for example) but as yet no-one has been able to specifically tie down what they might be and the specific temporal window of exposure. I do wonder also if there might be some influence of time in terms of the results found; is the autism of today, the same as the autism of yester-year?

Replication is the next stage of the process, replication in the same geographical area (or thereabouts) and replication overseas, like here in Northern Europe where many of the original genetic studies on autism were carried out. One would perhaps also like to see a little more information about whether the 'type' of autism might also show any effect and also covering the issue of the broader autism phenotype.

For now though, the sea-change continues as environment steps up to share centre-stage alongside genes in the very complicated world of autism research. The question is: will as much money be directed to the study of environmental factors and autism as has been spent on looking at genes?

Thomas the Tank Engine and autism

'They're two, they're four, they're six, they're eight, shunting trucks and hauling freight'. Ask a person in the average UK  (or other) street what these words mean and, assuming they haven't got children, most won't have a clue. Ask a parent with young(ish) children and you might get an altogether different response.

When thinking about autism spectrum conditions and their representation in the media and popular press, there are a few 'symbols' which come to mind. Most people would be familiar with the 'jisgaw piece' [previously] used by organisations like the National Autistic Society (NAS) and Autism Speaks. I assume the jigsaw piece is meant to represent... well, I don't know what it is meant to represent to tell you the truth. Autism as a puzzle, an enigma? The jigsaw of life? Some might say it may be representative of 'not fitting it'. I don't offer any opinion either way but assume that your interpretation will depend on your perception, experience, politics and viewpoint.

One of the other, more enduring symbols of autism, at least here in the UK, is that childhood favourite Thomas the Tank Engine. The NAS have entered into a bit of a partnership with the makers of Thomas over the past few years selling various Thomas things including pins and cards in aid of the NAS. Because I am not sure if everyone knows about Thomas, let me enlighten you. Thomas is a train with a face on the front of the engine. You can see a picture of him and his many friends here (alas, there is no Paul engine). His various adventures have been translated from the books by the Rev. Wilbert Awdry, who coincidental would have celebrated his 100th birthday in the next few days, to a very successful children's TV series.. two versions of it in fact. Thomas also famously courted the attention of a Beatle.

Just so you know Thomas and his friends are a very popular, well-loved series here in the UK and perhaps further afield across many different groups not just those children with autism or other developmental diagnoses. It is with autism in mind, that Thomas and his friends have perhaps found their biggest fan base; the question is why?

I will state for the record that I am not trying to provide any definitive answer as to why Thomas and friends are so popular. Every child (autistic or not) has their own little 'obsessions' as part of growing up; fads which change according to what they see, watch, read, are exposed to; and also fads because of what other people (peers) see, watch read and are exposed to. Lisa Jo Rudy over at autism.about discussed Thomas and autism a while back as did the NAS following their research into the subject.

The collective findings suggest that there are quite a few reasons why children with autism seem to have such an affinity to Thomas including:

• The clear storylines; something goes wrong in every episodes but is put right in the end.
• The friendly faces on the engines with exaggerated responses used to denote happy, sad, angry, etc.
• Thomas is a train, and quite a few children with autism like things like trains (mechanical, predictable, lots of lines, wheels, etc).

There are a few patterns emerging from these and the other reasons put forward for liking Thomas. 'Predictability' is probably one of the biggest themes; a bit like watching an episode of that 1980s classic 'the A-Team' and their 'we'll get captured and locked in a shed with lots of tools to make a tank' routine coupled with being the only soldiers of fortune who don't actually shoot anyone despite using automatic weapons every week! Ah yes, predictability at its 1980s best.

Whilst I can't say for sure on the new Thomas series, the old series apparently never showed the mouths of the engine faces move when speaking for one reason or another. Given the various research on face processing in autism, I wonder if perhaps this might also be a key point in how relaxing Thomas and friends come across and the issue of cross-modal parallel processing (as described by this study). On this topic, and without getting 'too psychological', I wonder if the Disney Cars for example, might show a similar or different response to children with autism given their very pronounced facial movements including the mouth (teeth and tongue) when talking?

Whatever the reason, the popularity of Thomas and friends has been sort of exploited from a therapeutic perspective to autism in the series 'The Transporters' and evaluated experimentally in areas of emotion recognition.

If only all TV could be so educational...

Eat right for your blood type?

Diet, particularly in relation to autism spectrum and related conditions, has been of some interest to me for many years in terms of what is eaten, what effects dietary components may have both physical and mental, and the various views on what 'should' be eaten in order to maintain good 'get-through-the-day health'. The more I read about diet in general and what we should or should not be eating, the more I paradoxically become both informed and confused. I say paradoxically because there are a quite bewildering array of schools of thought on what is the right kind of diet and the various evidence to corroborate (or not) such views.

Yes, I hear you cry, 'we are all different in terms of our genes and environment', and this perhaps is one of the more important points relating to what our diet should be composed of. We know for example that different populations are at different general risk of different issues related to food. With sweeping generalisation, for the South-East Asian populations, the problem is with milk (or rather the enzymes used to break down the sugars in milk). For the Northern Europeans it is gluten (and the elevated risk of coeliac disease amongst those of Irish descent). Without wishing to simplify such associations, it appears that such problems are either a result of evolutionary mechanisms (i.e. what foods different populations have been exposed to) and/or biological mechanisms (i.e. what mechanisms exist to process different types of foods). Taking this latter issue in particular, on different bodies reacting to different foods as a function of underlying genes and biological mechanisms, one of the interesting areas potentially pertaining to this is the issue of blood type.

'Eat right for your blood type' is the message from the main protagonist Peter D'Adamo. I would perhaps state quite categorically here that I am in no way advocating this or any other dietary method; merely describing and discussing (to coin a phrase from my undergraduate days). D'Adamo is a naturopathic doctor who has been involved in this area for quite a few years. I don't know a lot about naturopathy so you will perhaps have to excuse my ignorance and use this link as a description. The primary message from the eat right/blood type school of thought is that the ABO blood typing nomenclature might be a roadmap towards which kind of foods are 'right for you' in terms of promoting health (and disease) as a consequence of the relationship between things like dietary lectins and blood type. I am not going to do into the details about what foods might or might not be right for each blood group because it would take too long and turn this entry into some kind of dietary advert (for which I am neither qualified nor inclined to do so).

I had to think about the main thrust of this theory for quite a while before writing this post. I am slightly torn between thinking there could be something in this school of thought and the various 'issues' that I have with it. The main issue relates to the lack of scientific literature around this suggestion. I have for example, yet to find that big paper which has looked at different diets and different blood types under RCT conditions. If anyone can point me in the direction of such studies, I would be grateful. Having said that in my own area of work looking at the possibility that a gluten- and casein-free diet might be 'helpful' for some people with autism, there is a similar dearth of controlled trials reporting an effect!

The part of the diet/blood type theory that I am drawn to relates to the evolutionary perspective and D'Adamo's description of different evolutionary factors impacting on health, possibly as a consequence of things like blood type. I have said it before but Emily Deans over at Evolutionary Psychiatry talks quite a lot about the Paleo diet (and Paleo 2.0) and how, whether we see it now or not, humankind was until quite recently not raised on things like bread, milk and other components of the modern diet. Reading her various posts, and that of her contributors, they make a strong case for such a dietary effect. Indeed, the evolutionary perspective ties into quite a lot of research for example suggesting that our distant ancestral relations enjoyed a life of fruit, nuts, seeds, and the odd bit of fish or mammal (provided you could catch it). That combined with eating by season, living by the sea and having to actually find and kill your prey in the sunlight rather than popping into the car to go the half a mile or so to the supermarket for it, makes for some interesting comparisons with modern life and perhaps modern patterns of disease. The evidence for this more 'traditional' diet is quite plentiful and has been covered, quite unwittingly, in some of the other posts on this blog in relation to things like ADHD.

I would perhaps criticise the blood type/diet the same way I would criticise any diet in the assumption it makes about people all being the same. I don't know my blood type, but even if I did, I assume that my genetic make-up based on my family history presumably of mixed blood types down the centuries and my subsequent exposure to all the stresses of modern life, would make me individually susceptible to foods and health problems which even someone sharing my blood group may not have such issues with. The other issue I have is the basis for blood classification and the ABO and rhesus systems. There are other, not so common ways, of categorising blood type, which currently number about 30. I do perhaps wonder if some of these categorisations, used alone or in conjunction with the ABO rhesus system, may actually provide a more accurate reflection of how our genes might determine our relationship with nourishment from our environment.

Food for thought?

Brain and gut in autism: a historical perspective

History was always something of interest to me at school, particularly British history throughout the Industrial Revolution. I don't know why, but listening to the life and times of people like Richard Arkwright and inventions like the Spinning Jenny, stirred something in me, combined also with having a very enthusiastic teacher.  It is with history in mind that I offer this entry.

Whilst the primary aim of this blog is to look at the various contemporary research produced on autism, I also intend to go back thorugh the archives occasionally and look at some of the older research done, just to see if there is anything we can learn. In this post, I want to cover this paper* by Goodwin and colleagues first published in 1971; one of the first papers I've found that talks about the gut-brain connection in relation to autism. The paper was published in the Journal of Autism and Childhood Schizophrenia which has evolved to become the Journal of Autism and Developmental Disorders. Indeed, it was one of the very first papers to be published in the journal.

Nowadays there is quite a lot of discussion about the gut-brain axis in relation to autism and lots of other things. Neurotransmitters such as serotonin (5-HT to us Brits) are for example, found in both gut and brain. There is, therefore some good reason to suspect that what effects the brain may also affect the gut and vice-versa.

The Goodwin paper basically followed up a previous piece of research published by the same authors (Goodwin & Goodwin, 1969) where autism was found coincidental to coeliac disease. The aim of the follow-up research was to compare and contrast various parameters pertinent to the gut-brain relationship in children with autism (n=15) (and their siblings, n=14) compared to asymptomatic children (n=25) and adults (n=300) and adults with schizophrenia (n=200) and non-specific 'mental disorders' (n=6).

There are a few really interesting details to arise from this paper including:

• They make mention of the work of the late Curt Dohan and his research on schizophrenia and cereal grains.
• Several participants diagnosed with autism had siblings also diagnosed with autism.
• Several somatic co-morbidities were noted in the autism group including anaemia (crescent cell which I think is better known as sickle-cell anaemia these days), eczema, asthma and hyperthyroidism.
• There were quite a few cases of persistent co-morbid functional bowel problems noted in the autism group (6/15), as well as individual cases of coeliac disease and episodes of gastroenteritis.
• Signs of early food intolerance (colic, milk intolerance, diarrhoea) were 'reported for all autistic subjects'.
• A case of autism and co-morbid coeliac disease is described: 'A normal diet, ordered in error, produced a brief relapse with exacerbation of autistic symptoms' (corrected by reinstitution of a gluten-free diet). 
• The authors note a novel way of introducing gliadin (gluten) and placebo to participants via a drink.
• Gliadin introduction decreased cortisol levels and affected circadian rhythms.
• The authors state that their results suggest childhood autism may be caused by a 'fundamental neurological dysfunction' but correlated with 'malabsorption and sensitivity to food'.
• Finally, the authors suggest that there is as much a need for further investigations, as there is 'a need for meticulous medical care, correction of sensory and gastrointestinal defects, and sustained observation of the autistic child in an environment conducive to learning and growth'.

Bearing in mind that this was research conducted almost a decade before autism came into the mainstream psyche (as represented by Wing and Gould's seminal 1979 paper), I find myself most interested in the reported findings. Not only were functional bowel problems being reported and discussed as co-morbidities to autism, the early food intolerance signs follow a similar path to those initially reported by Kanner in 1943. The somatic co-morbidities are also of interest, and in particular, the case study on coeliac disease and autistic symptoms which mirrors that of the most recent findings by Genuis.

I highlighted the gliadin and placebo drink because one of the main problems with the research looking at gluten- (and casein-) free diets for autism is the lack of double-blind, placebo-controlled trials. Whilst some research has been done on looking at developing GFCF and placebo test foods for such a trial, Goodwin and colleagues offer an extremely easy alternative: put your gluten (and casein) into a drink! It just goes to show that not seeing the wood for the trees is not an exclusively 'autistic' trait.

The last point highlighted is perhaps something we need to work on: providing meticulous medical care for people with autism and in particular the GI problems that a proportion present with. I don't want to do any finger-pointing but certainly there is some indication that some people with autism are not receiving the care they should be in this and other areas, despite all the relevant guidance and documentation being available.

To finish, a song released in 1971 from someone who has already been mentioned in previous posts.

* Goodwin MS. et al. (1971) Malabsorption and cerebral dysfunction: a multivariate and comparative study of autistic children. Journal of Autism and Childhood Schizophrenia. 1: 48-62.