"In the milder forms I think it's just a personality variant." Temple Grandin on autism

I draw your attention today to the transcript of an interview (see here) between a Scottish broadcaster, Rona Dougall, and Dr/Prof.Temple Grandin, following Prof. Grandin's recent appearance (Spring 2019) at a conference in Scotland.

The transcript provides readers with quite a lot of insight into Prof. Grandin's views about autism; both from a personal perspective of being diagnosed with autism (and perhaps being one of the most well-known autistic people) and also with reference to some wider discussions about autism.

Alongside the important message that Grandin wants to "see people that learn differently, people that might be labelled with autism getting good jobs" one particular part of the interview stuck out for me: "Rona: How do you define and diagnose autism? Temple: In the milder forms I think it's just a personality variant. In the more severe forms, where the individual remains nonverbal, that is definitely a disability."

I was interested in the notion that 'milder forms' of autism were seen as akin to "a personality variant" by Grandin, whilst more 'severe forms' were labelled "definitely a disability." Interested because, there are some on-going debates in various circles about (a) how one should 'classify' autism from the point of view of how much of an impact symptoms have on daily living, and (b) how the presentation of autistic traits are not solely confined to a diagnosis of autism or autism spectrum disorder (ASD).

On the first point about 'classifying' autism, there is, as I say, debate about how symptoms can variably present and how best to describe the 'differences' between someone diagnosed as being on the autism spectrum who for example, is verbal, is able to navigate the social world to some degree, hold down a job and perhaps raise a family, compared with someone who has no (verbal) language, requires a high level of daily living support and who is likely to need lifelong assistance and support for sometimes simple tasks. Such heterogeneity has been present for many years under the diagnostic label of autism; further compounded by the recent-ish disappearance of Asperger syndrome in current and planned diagnostic texts (see here and see here).

The commonly used terms 'high-functioning' and 'low-functioning' don't seemingly provide the necessary words to differentiate 'levels of autism'; also being perhaps a little demeaning to those they are meant to represent. Outside of the negative connotations of 'low-functioning', one can perhaps see how 'high-functioning' as a term for 'can function' does not always convey the real-life message when it comes to the presentation of autism. I'm thinking specifically about the issue of suicidality and autism for example (see here) and the shocking statistics that continue to emerge. Likewise, to talk about autism in the context of 'severity' comes up against similar obstacles. 'Severe autism' could potentially describe anyone on the autism spectrum during moments of 'meltdown' for example. Indeed, the 'high-functioning' non-severe autistic child who just got handed a school exclusion for having an aggressive meltdown (yes, I said aggression) in class may very well be described as having severe autism in the same way that a 'low-functioning' child screaming and banging their head whilst covering their ears may thus be described. The endpoint in both cases being that autism is significantly and severely affecting both their lives at that point. I firmly believe a lot more thought needs to go into such 'classification' issues (see here) including more mention of the concept of 'profoundness' and perhaps further utilisation of the DSM-5 'support gradings' (see here) which have been installed.

Insofar as the second point covering 'mild' autism as a 'personality variant' and the issue that the label autism does not have exclusive rights to the presentation of autistic traits, another area of interest opens up. I've talked quite a bit on this blog about how autistic features / traits / symptoms are readily seen across a whole variety of different labels (see here and see here) and what this means for the concept of 'self-diagnosis' for example, that is sometimes seen / discussed on social media in particular (see here). Drawing specifically on the presentation of autistic traits in something like borderline personality disorder (BPD) [1] one could very well express an opinion that yes, autism in some cases may well be akin to a personality variant. Such a line of reasoning fits well with the (still emerging) concept of neurodiversity as applied to autism (see here) where autism is viewed as a "natural variation" [2].

But then the questions arise: at what point does autism cease to be a 'personality variant' to then becoming 'definitely a disability'? Is it just based on the acquisition of spoken language? Grandin does mention a few times in the interview about autism "in the milder forms, where the person is fully verbal" so perhaps showing an inclination towards a view that spoken language use is an important measure to differentiate differences vs. disability. But does reliance on spoken language use offer enough to make such a differentiation? Are their other facets of autism (or combinations of facets) which could better reflect any difference vs. disability arguments?

Personally, I'm not inclined to believe that there is a personality variant vs. definite disability debate to be had when it comes to autism. Formal receipt of a diagnosis is based not only on the presentation of autistic features or traits but also that such traits "cause clinically significant impairment in social, occupational, or other important areas of current functioning." If one was to say that some autism is just a personality variation, it could for example, dissipate the meaning of autism and the supports that are required. The risk of 'diluting' an important message about the need for those services and resources to ensure that people across the autism spectrum and their loved ones get the help and support they need to have a good quality of life is not a risk, in my view, worth taking.

----------

[1] Dell'Osso L. et al. Correlates of autistic traits among patients with borderline personality disorder. Comprehensive Psychiatry. 2018; 83: 7-11.

[2] den Houting J. Neurodiversity: An insider's perspective. Autism. 2019 Feb;23(2):271-273.

----------

Why the words "every one of us hovers somewhere along the autistic spectrum" are so dangerous

The Guardian, Friday 26th April 2019

Today I offer another post based on a newspaper report, as Greta Thunberg and her autism diagnosis continue to generate debate (see here).

This time around the report (letter) in question (see here) titled "Autism and Asperger’s are useless diagnostic labels" is the focus, and, in my opinion, quite a dangerous quote included in the text: "... every one of us hovers somewhere along the autistic spectrum."

Why is it so dangerous to imply that the general population is just a (hovering) footstep away from autism spectrum you might ask? Well, I don't think anyone would disagree with the idea that the behaviours noted in autism aren't something that's just magically present in those diagnosed. Such behaviours can be seen in various other states or conditions and/or across various different times of life and maturation. The thing that makes the presentation of such behaviours so distinct and worthy of a diagnosis of autism is the frequency and intensity of such behaviours and importantly, the way they significantly impinge on functioning and daily life. In that respect, yes, autistic behaviours are part of the complex and intricate tapestry of life. But the (sustained) frequency and impact of such behaviours distinguish autism from not-autism.

In such a context then, the idea that everyone hovers along the autism spectrum is a misnomer. It conflates the 'autistic behaviours are part of the complex and intricate tapestry of life' idea with the important reasons why an autism diagnosis is given. This is dangerous because it has the potential to belittle a diagnosis of autism and what it means to those in receipt of such a diagnosis; often a diagnosis that as taken months/years to finally receive. Indeed some people have suggested that the claim that 'everyone is on the autism spectrum' is an "absolute sin"...

It's also dangerous because such thinking opens the door to other things like the self-diagnosis of autism. I've talked about self-diagnosis quite a bit on this blog (see here and see here) and how, self-realisation is often an important (nay, crucial) step to getting an autism diagnosis for many. When however such self-realisation turns to self-identification and/or self-diagnosis on the basis of various 'are you autistic?' screens available on the Internet and beyond (see here), the side-stepping of formal assessments can lead to problems. Problems that can include potentially missing important conditions/states that seemingly overlap with autism or the presentation of autistic traits (see here and see here) as well as also skewing some important narratives from those who have been formally diagnosed with an autism spectrum disorder and their experiences.

I know some people disagree with such a position. Some people think that the diagnostic criteria for autism are too stringent, too medically focused, or access to formal assessment/diagnostic services is too restricted and costly. I don't disagree that we need to do more to 'fill a gap' and ensure that those who might fulfil the diagnostic criteria (including the "significantly impinge on functioning and daily life" bit) should have access to the relevant professional assessment services. But that doesn't mean that anyone and everyone can or should just publicly label themselves as autistic in the meantime.

And finally, as we're learning from the evolution of the neurodiversity movement, autism is still very much to be seen as a disability (see here). So another possible implication of the "every one of us hovers somewhere along the autistic spectrum" sentiment is that we are all somehow 'disabled' by our hovering along the autism spectrum. This is frankly a ridiculous suggestion and, continuing the theme of how dangerous such a sentiment is, could have some really serious consequences for the provision of resources and services for those who are genuinely disabled by facets of their autism. Words matter.

----------

CBT for anxiety in kids with autism meta-analysed

A short post today to bring the findings reported by Celal Perihan and colleagues [1] to your attention with regards to the use of cognitive behavioural therapy (CBT) for anxiety in the context of paediatric autism.

It was yet another case of authors meta-analysing (boiling down) the data from the existing research literature and coming to a conclusion. Twenty-odd studies reported on the use of CBT - talking therapy - for an important quality-of-life draining issue for many diagnosed on the autism spectrum: anxiety (see here and see here). Researchers concluded that CBT did seem to be associated with a reduction in some anxiety-linked symptoms/behaviours but things weren't altogether cut-and-dried on the usefulness of CBT in this context.

I wasn't surprised by these results. I've blogged before about how CBT for anxiety in the context of autism might be a useful option for some (see here). That being said, I'm not 100% in favour of CBT being used in this context. I say that because, as things stand, we don't know enough about why anxiety seems to be over-represented in relation to autism (see here). I've opined on various occasions that anxiety is probably a lot more than 'just a comorbidity' when it comes to some autism (see here). In that context, the use of CBT 'for anxiety' is a little bit like saying that CBT is being used 'for autism'. And the evidence for that is pretty unconvincing (see here).

If you really want to convince me that CBT is good for anxiety in the context of autism, try pitting CBT against some of the other non-psychology interventions that have been talked about for anxiety in relation to autism (see here). See what comes out on top rather than just looking at CBT vs. treatment-as-usual (whatever that means). Oh, and bear in mind that we still don't know enough about the presentation of anxiety in those on the autism spectrum who are perhaps not able to participate in CBT (see here)...

----------

[1] Perihan C. et al. Effects of Cognitive Behavioral Therapy for Reducing Anxiety in Children with High Functioning ASD: A Systematic Review and Meta-Analysis. J Autism Dev Disord. 2019. Feb 27.

----------

"The neurodiversity movement is, arguably, still in its infancy"

The quote heading this post - "The neurodiversity movement is, arguably, still in its infancy" - comes from the paper published by Jacquiline den Houting [1] discussing the idea / concept / movement known as neurodiversity as applied to autism.

I wanted to talk about this article because it's fair to say that neurodiversity, with specific reference to the label / diagnosis / condition that is autism, has been a source of quite a bit of discussion down the years (see here for example) and probably will continue to be so for a while yet. Even by posting on this topic and perhaps offering something just a little bit critical of some facets of neurodiversity, one runs the risk that someone, somewhere will take offence, such is the strength of feeling about this topic. But being "still in it's infancy" perhaps means that the idea of neurodiversity is still being properly formulated and adapted. And respectful [critical] dialogue is an important part of that development process.

Although there are lots of different interpretations of what neurodiversity [currently] is and what it includes, I would probably suggest that the ideas that (a) all brains (and bodies) are different and (b) diagnostic labels such as autism "are the result of normal, natural variation in the human genome" are key to any description. It's also worth pointing out that under neurodiversity "autism is conceptualised using the social model of disability" as an alternative to the medical model. The difference between the models lies in 'where disability comes from'. The medical model focuses on the individual; the social model focuses on society at large.

den Houting set out "to debunk some of the misunderstandings of the neurodiversity movement" in her writings. The three areas that she focuses on are: "that the neurodiversity paradigm frames autism as a difference and a cultural identity, but not a disability... that the neurodiversity paradigm can only be appropriately applied to autistic people with lower support needs... that framing autism through the neurodiversity paradigm implies that autistic people do not require support, as neurodiversity would supposedly have us believe that autism is ‘just a natural variation’." She provides some important responses to those 'misunderstandings' which are truly refreshing to see. These include the ideas that "the social model of disability is not a panacea for all disabilities" and some additional commentary on the problematic use of functioning labels applied to autism (see here for other discussions on this topic). Throughout, the focus is on how "the insiders’ perspective on the neurodiversity paradigm" is important, and needs to be more readily incorporated into autism research and practice (see here and see here), also perhaps added to other important voices (see here).

Without trying to ruffle any feathers and importantly, accepting that people are entitled to their own viewpoints about autism, particularly those who are themselves autistic, I still have further questions to ask about the neurodiversity paradigm and some possible limitations of the current version of it in the context of autism.

So first, the social model of disability is important. As per one example I found about how society still does create barriers to disabled people (wheelchair users and stairs is the classic example), there is merit in saying that society is not always as inclusive as it should be. Society needs to do a lot more, particularly where disability might not be so obviously present. I am however always struck by the neurodiversity idea that the social model of disability should serve as a total replacement of the medical model of disability. Can the two models not seemingly co-exist? Is it not possible for example, that someone can be both disabled by autism, or facets of autism, and also be disabled by the way that society 'responds' to an autistic person / person with autism? If I take the wheelchair user example again and apply it to this 'shared' model, would it not be sensible to suggest that if there are the means to empower a person not to have to use a wheelchair all the time, they could be utilised alongside also providing a ramp access if and when it is needed? Or should an important intervention that could potentially help someone to walk unaided for example, be discarded just to fit a sociological narrative? Now apply similar sentiments to autism and say someone who has crushing anxiety as a prominent feature (see here) where there may be options worth considering for some (see here). And just before you say anxiety is not a core feature of autism, I'd be minded to suggest that it may very well be intricately connected to core autistic features (see here and see here)...

Related to that last thread are the discussions about autism and natural genetic variation and how this plays out in relation to support and intervention, particularly when: "Conflict between critics and neurodiversity advocates in the debate over support and interventions tends to centre on the end goal of such interventions." den Houting uses some pretty sweeping language when concluding that: "Critics often (either explicitly or implicitly) promote reducing or eliminating autistic traits as a key priority of intervention." Such a line of thought ties into the idea of autistic identity that has followed neurodiversity; highlighting how autism is often seen as something 'central' to a person and perhaps impacts on how that person wants to be perceived by the world at large (see here). The logical notion is that any intervention to try and *change* autism represents an attempt to try and change something fundamental about a person.

Although I can't speak for every person who has ever or continues to involve themselves in autism research, particularly autism research geared toward intervention, I've often thought of the idea of 'eliminating autistic traits' as a rather sweeping generalisation. Most researchers understand that (a) there is no behaviour seen in autism that is not potentially seen in some measure in the 'not-autism' population at some point during a lifetime, and (b) the diagnosis of autism relies on the fact that autistic behaviours are present to an extent that they "cause clinically significant impairment in social, occupational, or other important areas of current functioning." I might add that point (a) is NOT in any way supporting throwaway phrases like 'we're all a little but autistic'. If aspects of autism are however so 'clinically significantly' impairing, I don't see why the choice to potentially reduce or alleviate certain issues shouldn't be offered if and when a suitable - safe and effective - intervention becomes available. Not to do so would perhaps constitute discrimination and represent a further inequality. Bear also in mind that a diagnosis of autism rarely exists in some sort of diagnostic vacuum (see here). As I've already mentioned, the presentation of certain 'comorbid' conditions may very well be intricately *related* to certain core facets of autism (see here and see here) as per what has been noted in the peer-reviewed literature on rare genetic conditions manifesting autism plus other issues (see here for one example). With increasing recognition of these points, the discussions about the ethics of 'reducing autistic traits' turn out to be a little more complicated than one might originally think. I might also add at this point that neurodiversity doesn't seem to much like the ideas that not all autism is wholly genetic (see here) and/or present from birth or before (see here).

I'd suggest that the authors call for "services aimed at improving subjective quality of life and well-being while respecting and preserving autistic ways of being" is also not at odds with other research and practice aims and objectives. It's perfectly acceptable to look at how autistic traits and features might positively impact on a person and try and disentangle them from other traits that might be rather more disabling and could perhaps be amenable to some sort of intervention if wanted/required. Indeed, with initiatives such as the development of the ICF cores sets for autism, there is already a potential plan of action under such a heading (see here). And yes, the words "provided at the request and with the consent of the autistic person in question" are absolutely to be respected.

I have to say that in all I've read about neurodiversity and autism down the years, the key themes that jump out to me about why this idea is so readily acceptable to so many are the concepts of respect and belonging. Respect as in ensuring that a person is valued as a person and not some sort of clinical entity or diagnosis to be 'researched' and belonging insofar as neurodiversity offering an identity and perhaps even kinship for many people with many different 'medicalised' labels. It's impossible to know the personal histories and circumstances of everyone who subscribes to the concept of neurodiversity (whatever they see this as), but after hearing many challenging stories of childhood and early adulthood adversities faced by those on the autism spectrum, finding some sort of 'belonging' would seem to be an important part of the draw of neurodiversity (and probably why neurodivesity flourishes on social media platforms). Indeed as the author herself once said in an interview: 'Find your tribe'. From those points of view, neurodiversity does offer something valid to autism and beyond.

I can't however brush over certain aspects of neurodiversity including the wholly social model view of disability that it strives to adopt. It's quite evident that the obstacles posed by society do impact people, but probably not with any less of an effect on some autistic people as their autistic features do. I speak particularly of those who present with significant difficulties that mean a life of constant care and supervision; something perhaps described as level 3 in the latest DSM-5 criteria for autism (see here). Indeed, one could argue that where autism for example, means a lifetime of parental guardianship and/or residential care and support, society is generally at its most 'ableing' in providing such services and support. Not always, and improvements are always required (see here), but generally speaking society is not the universally disabling monster that some would have it labelled as.

Finally I can't mention neurodiversity without also mentioning an unfortunate word: 'neurotypical' also known as NT. As I've said before, the misnomer known as 'neurotypical' (see here), thankfully only mentioned twice in the den Houting paper, is something that seems to be synonymous with neurodiversity, despite being a tad counter-intuitive [2] (typicality in diversity?). If neurodiversity wants to perhaps evolve further, distancing itself from the nonsense that there is such a thing as 'neurotypical' within the vast ever-changing individual complexity of the brain and central nervous system (CNS) is perhaps as a good a first step as any to take.

----------

[1] den Houting J. Neurodiversity: An insider’s perspective. Autism. 2018. Dec 17.

[2] Armstrong T. The myth of the normal brain: embracing neurodiversity. AMA J Ethics. 2015 Apr 1;17(4):348-52.

----------

The positives of ADHD?

I tread carefully with my discussions of the paper by Jane Ann Sedgwick and colleagues [1] talking about "insights into positive human qualities, attributes or aspects of ADHD [attention-deficit hyperactivity disorder] that can support and sustain high functioning and flourishing in ADHD life." Carefully because, just like discussions over another label closely associated with this blog, there are a myriad of different views and opinions about the way neurodevelopmental disorders / conditions / labels are presented and viewed by those who have been diagnosed with them. Who am I to tell someone what they should or shouldn't be thinking?

Sedgwick et al started from the idea that although 'disorder' is a defining part of ADHD, the subsequent focus on 'deficit' does not perhaps do justice to all that is included under the diagnostic term. They reference 'positive psychology' and its moves "away from a deficit-focused view of mental health, towards approaches that were more enabling, strength-based and emphasised positive aspects of human functioning and flourishing (i.e. positive emotions, engagement, relationships, meaning and accomplishment)." They then move to the aim of their study: "to explore ability and disability in ADHD from the participants own perspective using the WHO International Classification of Functioning, Disability and Health (ICF) framework." Mention of the WHO ICF framework also brings me back to similar discussions with autism in mind (see here).

"We recruited six successful (i.e. HF[high-functioning]-ADHD and flourishing) adult males aged between 30 and 65 years from an NHS tertiary service in London." Said participants were interviewed with questions such as: "(1) What do you think are the advantages and disadvantages of having ADHD? (2) Please describe a time when you felt that your ADHD helped to achieve something? (3) What aspects of your ADHD would you miss if it went away?" Following some content analysis of results, certain themes emerged.

"The main findings of this study are characterised by six core themes (cognitive dynamism, courage, energy, humanity, resilience and transcendence)." Alongside, a number of sub-themes were also reported including "divergent thinking, hyper-focus, nonconformist, adventurousness, self-acceptance and sublimation." Researchers concluded that because these themes and sub-themes were not listed as "sanities in positive psychology" (i.e. "relevant to people in general, with or without ADHD") they *might* be specifically linked to ADHD.

OK, a few steps back. You'll no doubt recognise that this was research based on interviewing six men with ADHD (and 'flourishing' with their ADHD at that). It's not difficult to see how the issue of 'representativeness' might be a particular problem with the Sedgwick results. If for example, they had presented data from their six participants compared with another six who perhaps weren't described as 'flourishing' (see here for one possible example), I'd be a lot more confident in their findings. Better than that would have also been the views of a few other participants representing other labels where ADHD is part-and-parcel of a more complicated clinical picture (see here and see here for examples). And don't forget their focus on one gender/sex too...

I can see how something like 'cognitive dynamism' conceptualising "ceaseless mental activity" could be seen as a double-edged sword when it comes to ADHD. Yes, it can be utterly disabling for some (many) in terms of being "scattered, chaotic and a bit random." But in some scenarios and with the right environment and encouragement, such an issue could be a lot more positive a trait to have. Likewise the concept of 'energy' whilst quite synonymous with ADHD, probably also has an upside as well as a downside, particularly when harnessed to the benefit of the person concerned and their strengths.

But... I have some difficulty with the ideas that courage, humanity and resilience for example, are somehow to be viewed as 'the positive side of ADHD'. There are plenty of people out there who demonstrate such strengths without a diagnosis of ADHD or indeed, a diagnosis of anything. The fact that Freud and Nietzsche are also referenced in relation to some of those terms suggests to me that the authors have perhaps moved slightly outside of the evidence-based arena in some of their interpretations of their findings. Similarly, the use of the term 'divergent thinking' isn't exactly what I would call science-based either, as my 'neurotypical' brow starts to furrow (see here).

I appreciate what the authors have tried to do with this paper: reaching out "to people with lived experience of ADHD: service users, patients, family members, carers, partners, to say that not all symptoms of ADHD are maleficent." It's admirable that such thinking is there, particularly when a diagnosis of ADHD can seem such a daunting prospect both in the short- and long-term (see here). I'm slightly concerned however that this paper seems to be insinuating that a clinical diagnosis of something like ADHD should be used as a framework to 'psychologise' someones life. The inference being that because ADHD undoubtedly affects many aspects of a person's life, it is something that defines them and all their behaviour(s) and attitude(s) on many aspects of life. I've seen it before in other labels too as diagnosis morphs into identity.

Personally, I don't think anyone should be defined by their clinical or related label in the same way that sex/gender, skin colour, religion or politics shouldn't define a person. It's OK to say yep, I have ADHD and it affects my life in this way or that way, and this is what I need to help overcome such issues. But I'm not convinced that adopting an 'ADHD identity' and seeing all the positives and negatives of life as part of that diagnostic identity is particularly good for anyone. A person is defined by their actions not their [diagnostic] label...

----------

[1] Sedgwick JA. et al. The positive aspects of attention deficit hyperactivity disorder: a qualitative investigation of successful adults with ADHD. ADHD Attention Deficit and Hyperactivity Disorders. 2018. Oct 29.

----------

The "experiences and perspectives of people who have severe autism and are minimally verbal"

I'm not going to formulate some sort of mammoth, long-read post on the paper by Christie Welch and colleagues [1] but I did want to bring their findings to your attention. My reasoning: the authors include a quite 'under-represented' group (see here) when it comes to the public view of the autism spectrum: those who "have severe autism and are minimally verbal."

Presenting the results of a qualitative study whereby "three memoirs written by youths who have severe autism and are minimally verbal were examined using inductive thematic analysis", authors observed several important themes emerging. Principal among them: "regarding the youths' concern that the way they are perceived from the outside does not match the people they are on the inside."

"These youths emphasize concepts of embodiment and physical control as central to their experiences of autism" said Welch et al, as the message seems to be that more should be done to 'tackle' these experiences and ensuring that sweeping generalisations about language use or non-use for example, are not seen as a proxy for cognitive and intellectual abilities. Just because someone cannot speak verbally, does not mean that they have nothing to say, and vice-verse.

I'm careful not to fall into the trap of 'autism severity' on the basis of the Welch findings, where terms like 'high' and 'low' functioning unduly simplify people in a binary fashion and seemingly without regard for the complexity of how autism affects various aspects of a person's life. I do however like the idea that more effort needs to go into things like the development of communication systems for those who are minimally verbal; both for clinical and research purposes but perhaps more importantly, day-to-day purposes, given also some catastrophic examples where communication issues have severely impacted on autistic lives (see here and see here).

And to the question of 'how common is 'minimally verbal' in the context of autism', well, another recent paper [2] has come up with an estimate: about a third...

----------

[1] Welch C. et al. Autism inside out: lessons from the memoirs of three minimally verbal youths. Disabil Rehabil. 2018 Apr 23:1-9.

[2] Bacon EC. et al. Naturalistic language sampling to characterize the language abilities of 3-year-olds with autism spectrum disorder. Autism. 2018 May 1:1362361318766241.

----------

EEG abnormalities and "high functioning" autism

I'm not a great fan of the term 'functioning' when it comes to autism (see here) hence the quote marks around high-functioning in the title of this post. Yes, I understand the message that it's trying to convey and that we don't have viable alternatives at the moment. It just however seems a little sweeping in terms of 'generalised' describing and labelling of people...

No mind. Today I'd like to bring the paper by Özdem Ertürk Çetin and colleagues [1] to your attention and the observation that their results "support the fact that EEG abnormalities are observed at a higher rate also in ASD [autism spectrum disorder] with a better functionality." EEG - electroencephalographic or electroencephalogram - refers to the recording of electrical activity in the brain. Although in small amounts, our cells use electrical signals to message each other; said activity in the brain can be picked up and recorded using some rather sensitive equipment. EEGs are the method of choice when it comes to investigating epilepsy or related seizure disorders (such conditions are epitomised by abnormal electrical activity between cells).

The connection between autism and epilepsy / seizure disorder is one that has persisted for many years (see here); even now to the point where research is starting to talk about autism / autistic traits being a feature of some cases of epilepsy (see here). Quite a bit of the research looking at autism and epilepsy has tended to suggest that epilepsy may be a little more over-represented for those towards the more severe end of the autism spectrum (i.e. in relation to presentation of symptoms and the presence of some degree of learning / intellectual disability). The Ertürk Çetin findings report that even in those with described 'better functionality' there may be disturbances in relation to the measurement of EEGs.

Looking for "the presence of EEG abnormalities in sixteen children diagnosed with high-functioning ASD" researchers reported that whilst none of the participants had clinical seizures (the overt expression of epilepsy) "5 patients (31.3%) were detected to have EEG abnormalities." Bearing in mind the quite small participant numbers and the fact that no control groups (asymptomatic or otherwise) were included for comparisons, this is quite an important finding. I agree with the authors when they say that: "The potential impact of EEG abnormalities on cognition and behavior, and the risk of epilepsy should be considered during long-term follow-up of these patients." In other words, whenever a diagnosis of autism or ASD is received, one should always consider the possibility that a heightened risk of epilepsy / seizure / abnormal EEG patterns might also be a feature of presentation irrespective of "functioning" status.

----------

[1] Ertürk Çetin Ö. et al. EEG abnormalities and long term seizure outcome in high functioning autism. Acta Neurol Belg. 2017 Apr 26.

----------

Ertürk Çetin Ö, Korkmaz B, Alev G, & Demirbilek V (2017). EEG abnormalities and long term seizure outcome in high functioning autism. Acta neurologica Belgica PMID: 28447214

On the under-studied populations within the autism spectrum

I don't typically post on a Sunday, but given that today - 2nd April - is World Autism Awareness Day I've decided to make an exception. The theme of today's post is based around the notion that the autism spectrum is truly wide and heterogeneous, and although this is fairly universally acknowledged, the current peer-reviewed research literature on autism is perhaps not yet so accepting. So...

Consistent with the idea that scientific research seems to go through cycles of themes/interests, the commentary paper by Bhismadev Chakrabarti [1] (open-access) continues an important theme talking about the representativeness of autism research (see here). Specifically how: "Research on the autistic phenotype has focused mostly on higher functioning individuals on the spectrum, neglecting those on the lower end."

OK, first things first. The idea of 'functioning' in relation to the autism spectrum is something that some people (including myself) find a little problematic. Yes, I know what it is trying to describe in terms of ability levels, adaptive skills and the level of support seemingly required as examples. But like many things when it comes to the autism spectrum, the [sweeping] generalisation that high-functioning autism automatically means 'can function' autism and low-functioning autism conversely means 'can't' doesn't really do justice to the complexity underneath such categorisations. I say all that acknowledging that no simple, viable alternative currently exists to replace 'functioning' at the present time.

Chakrabarti takes the reader through the issues of research representativeness based on the findings reported by Jack & Pelphrey [2] and their research review of neuroimaging studies in relation to autism. They concluded that: "There is a paucity of neuroimaging research on ASD [autism spectrum disorder] + ID [intellectual disability], ASD + MV [minimally verbal], and ASD + R [developmental regression], and what findings do exist are often contradictory, or so sparse as to be ungeneralizable."

I'm gonna pull out a couple of key points raised by Chakrabarti that are worthy of lots more research and clinical inspection.

First: "Should we be thinking of these different populations (MV, R and ID) as distinct subgroups within ASD?" Set within the context of 'the plural autisms' (see here) and how autism as a singular label seems to have very little usefulness as a research starting point (see here), it strikes me that Chakrabarti's suggestion of 'phenotypic dimensions' is quite a good one. The fact that developmental regression gets a look-in is also quite important (see here and see here) (no, not every single case of autism was present before or at birth/early infancy).

Second, on the question of 'neuroimaging phenotypes' akin to some of the parameters set out in the RDoC alternative to DSM (see here) I think we have to wait and see. From what we already know about neuroimaging results when it comes to the autism spectrum as a whole, there is no one 'brain area' seemingly linked to all diagnoses of autism (see here) as things currently stand, bearing in mind the limitations of the technology currently used. I don't doubt however that specific groups of people on the autism spectrum might be more likely to show definite collective brain pathology (see here) particularly where certain over-represented comorbidity might complete the clinical picture. The current state of findings in this area also has implications for the use of problematic terms such as 'neurotypical' to denote not-autism (I personally have no idea what neurotypical looks like on a brain scan nor in terms of development, behaviour, maturation or comorbidity).

I'm hoping that papers/commentaries such as the one from Chakrabarti are a call to action when it comes to making autism research 'work' for everyone on the autism spectrum. That and acknowledging that the existing - skewed - research base might be missing some important details when it comes to the very wide and very heterogeneous autisms...

To close and without getting too political, I want to link to a piece that was published in the Huffington Post this week (see here) discussing the idea of 'celebrating' world autism awareness day. It's something that I've seen quite a lot of these past years. Reiterating that the autism spectrum is indeed wide and heterogeneous, I found the article to very moving particularly the writer's notion that: "What I will do is celebrate my son for who he is... But I won’t celebrate the struggles we call autism." Appreciating that autism as a label is 'identity' for some on the spectrum, such sentiments reaffirm the requirement to ensure that all voices on the autism spectrum are heard, and that 'celebration' is reserved for people and their achievements, not their labels...

----------

[1] Chakrabarti B. Commentary: Critical considerations for studying low-functioning autism. J Child Psychol Psychiatry. 2017 Apr;58(4):436-438.

[2] Jack A. & A Pelphrey K. Annual Research Review: Understudied populations within the autism spectrum - current trends and future directions in neuroimaging research. J Child Psychol Psychiatry. 2017 Apr;58(4):411-435.

----------

Chakrabarti B (2017). Commentary: Critical considerations for studying low-functioning autism. Journal of child psychology and psychiatry, and allied disciplines, 58 (4), 436-438 PMID: 28346760

"a low prevalence of definite pathology in children with autism spectrum disorder undergoing brain MRI"

The quote: "a low prevalence of definite pathology in children with autism spectrum disorder undergoing brain MRI [magnetic resonance imaging]" heading up today's post is taken from the paper by Alison Cooper and colleagues [1] who among other things, examined whether MRI picked up anything 'useful' when it came to autism / autism spectrum disorder (ASD) in their cohort. MRI, by the way, refers to the fantastic imaging technology that provides those rather detailed pictures of our inner body workings including that related to the brain.

The main caveat to the observation that MRI probably isn't going to reveal any sort of autism-specific 'structural brain signature' anytime soon is that comorbidity (whether symptoms or conditions) might count: "In children with abnormal neurologic examination or preexisting finding, seizures, or headaches, one may consider performing brain MRI given the higher prevalence of pathology." This is probably not unexpected given the 'effects' that epilepsy can sometimes have on brain structure for example and how epilepsy is not an unstrange diagnostic bedfellow when it comes to quite a proportion of cases of autism (see here).

I don't want to dwell too much on the Cooper findings but rather set them in the context of other research where brain imaging technologies have been talked about with autism in mind. Specifically, I want to mention an important point about how using the label 'autism' to somehow denote some grand homogeneous presentation covering everyone impacts imaging research and practice just as much as it does every other research/clinical aspect of autism: use of the term 'autism' is not a good starting point (see here). The idea that 'functioning' in autism (I know, not a good descriptive term but the only one we have at the moment) might impact brain MRI findings for example, has been discussed on this blog before suggesting that those with so-called high-functioning autism tend to show little in terms of MRI results (see here) whilst those towards the more severe end of the autism spectrum may tend to more frequently show a little more (see here). You might argue that epilepsy for example, is more likely to follow those towards the more severe end of the autism spectrum (who are also significantly more likely to present with learning/intellectual disability) and this could potentially play a role in the pathology detected. One might also see this as yet more evidence for the plurality of autism (see here).

Although not a 'brain man' and hence no expert on brain imaging, I should also bring in the distinction between MRI and fMRI [functional] and how these might relate to autism. fMRI is basically a type of scan that can be performed using an MRI scanner to assess something other than just brain structure - normally blood flow (or at least blood oxygen content). The idea is that changes in blood flow/constitution may indicate changes in brain activity; something which is linked to all that chatter about brain functional connectivity. fMRI is something that is on the 'up' when it comes to autism research and other areas, the idea being that more subtle pathology could be present when it comes to function over structure at least for some on the autism spectrum perhaps mirroring the whole gene expression/function over structural genetics trend that we are also seeing in autism research and beyond.

Personally, I'm still a little cautious about this whole area and the need to avoid sweeping generalisations about how over- or under-connectivity in this brain area or that might be autism-specific. I don't doubt that MRI and fMRI are going to be useful diagnostic tools for some (indeed, useful to rule out identified organic findings that could be contributory to some autism) but I'm not convinced that many generalisable answers are going to be forthcoming very quickly.

To close, and remaining on the topic of brain imaging, a rather concise view of the recent ups-and-downs of fMRI including the words "I need a full length Atlantic Salmon. For science." Stat.

----------

[1] Cooper AS. et al. The Implications of Brain MRI in Autism Spectrum Disorder. J Child Neurol. 2016 Sep 14. pii: 0883073816665548.

----------

Cooper AS, Friedlaender E, Levy SE, Shekdar KV, Bradford AB, Wells KE, & Mollen C (2016). The Implications of Brain MRI in Autism Spectrum Disorder. Journal of child neurology PMID: 27629267