"Our findings beg the question, what is going on with these children who no longer have an ASD diagnosis?"

The quote heading this post - "Our findings beg the question, what is going on with these children who no longer have an ASD [autism spectrum disorder] diagnosis?" - comes from some media coverage of the findings reported by Lisa Shulman and colleagues [1]. Shulman et al (bravely) set about examining an important phenomenon in autism research and practice circles: those who were previously diagnosed as being autistic / having autism but at a later date 'no longer met the diagnostic criteria for autism'.

I've talked about these so-called 'optimal outcomers' quite a bit on this blog (see here and see here and see here for examples). I know such discussions aren't everyone's cup of tea, particularly those who see autism as so much more than a diagnostic label, perhaps akin to an identity. The fact of the matter is however that there is what I would call 'substantial evidence' in the peer-reviewed science domain and beyond that the idea that 'autism is a lifelong condition/disorder' does not necessarily cover the huge heterogeneity encompassed under the label autism. Some people, for whatever reasons, do not reach critical diagnostic cut-off points for autism on a lifelong basis.

So, what did Shulman and colleagues do and find? They reviewed the clinical records of over 500 children who were diagnosed with autism or autism spectrum disorder (ASD) at a specific clinic. Most were aged around 3 years old when first diagnosed and were followed up about 3-4 years later. Importantly most of the children participated in one or more intervention programs aimed at improving skills and the like and (hopefully) quality of life. Again, although not everyone's cup of tea, the words 'applied behavioural analysis' (ABA) are also mentioned as an intervention; something that has been discussed in the context of optimal outcome before (see here).

Shulman et al noted that 38 children, equating to around 7% of their group (38/569), "subsequently experienced resolution of ASD symptomatology and no longer met diagnostic criteria for ASD at follow-up." This figure (7%) is not a million miles away from other figures noted in other independent studies (see here and see here).

Further examination of records however revealed that not meeting diagnostic cut-off points for autism did not necessarily mean 'symptom-free' as various other symptoms/conditions were noted in about two-thirds of their 'optimal outcomers'. This included language disorders, attention-deficit hyperactivity disorder (ADHD) and even the signs and symptoms of psychosis in a few. Three of the 38 optimal outcome children were noted to be completely symptom-free (described as 'recovered from autism' with no other issues); something that has again been noted in other studies too (see here).

Then back to that quote titling this post: what is going on with these children who no longer have an ASD diagnosis? I'm sure some people will put it wholly down to initial misdiagnosis. Y'know, something along the lines of 'they weren't autistic in the first place' despite the fact that they previously met clinical cut-off points for a diagnosis. Minus sweeping generalisations, misdiagnosing autism is not something that can be completely taken off the table as per other examples in the peer-reviewed literature and beyond (see here and see here). Indeed, if one ventures down the pathway of misdiagnosis as accounting for results such as those by Shulman and colleagues, one must logically then assume that such misdiagnosis is pretty widespread (at least in 7-12% of cases of autism). Such a situation also plays into other ideas too; particularly how self-diagnosis of autism is even more dangerous than has been hitherto suggested (see here and see here) with regards to the risk of misdiagnosis.

Other people might talk about things like 'masking' as accounting for such optimal outcome, where symptoms are merely being consciously hidden by those with autism (see here). It's an important area of study by all means but seriously ask yourself the question: how likely is it that a 6 or 7-year old child would be able to mask some fundamental signs and symptoms of autism so as to mislead a professional clinician that they didn't have autism having previously met cut-off points? Adults, yes perhaps some (see here). But young children? Be honest now...

Personally, I'm inclined to believe that at least some of those optimal outcome cases are genuine. That is, children (and adults) did meet the diagnostic criteria and clinical cut-off points for autism (including the criteria about symptoms significantly affecting day-to-day life) and then for whatever reason(s) symptoms abated. Intervention certainly could have played a role, but I'm also inclined to believe that behavioural intervention in particular, does not have the power to render someone who was autistic to be not-autistic. I know some big claims have been made about certain interventions down the years, but I've seen little [longitudinal] convincing evidence in the peer-reviewed literature yet.

There must be other factors at work. There must, for example, be a biological element to this. And as one example, just head back to all those discussions about certain types of infection potentially *leading* to the presentation of autism or autistic traits (see here and see here) as a possible template, and the outcomes mentioned for some. One possibility at least.

Much like discussions on another sometimes contentious topic - regression and autism (see here and see here) - there's enough peer-reviewed science literature to suggest that optimal outcome (or however you want to describe such 'growing out of' issues) is a very real scenario for some. Not all, but for some. And so once again the call goes out to start studying the genetics and biology of these so-called optimal outcomers, and then ascertaining whether any findings might have some important implications more widely for the [plural] label of autism...

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[1] Shulman L. et al. When an Early Diagnosis of Autism Spectrum Disorder Resolves, What Remains? J Child Neurol. 2019 Mar 12:883073819834428.

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"and some will be largely free from symptoms of the disorder by adulthood"

The quote heading this post - "and some will be largely free from symptoms of the disorder by adulthood"- comes from a seminar article published in The Lancet by Catherine Lord and colleagues [1] on the topic of autism spectrum disorder (ASD). It follows a series of review and seminar articles published in this journal down the years on the topic of autism; covering various different angles, viewpoints and opinions.

I decided to work this quote up into a short blog entry because there are a couple of important implications stemming from such sentiments that coincide with other independent research findings. Not least are the ideas that: (a) for some, autism is not a life-long condition/state/diagnosis/disorder (see here) and (b) far from being static, the presentation of autism can and does change for whatever reason(s) (see here).

There are some caveats to those 'ideas' I've just described. Not least is the 'sweeping generalisation' caution that is required when it comes to autism, and it's very, very heterogeneous nature. Autism for most/many people is a life-long condition. For many people, particularly those who are profoundly autistic, symptoms/traits/characteristics are always going to be present to a significant degree and affect their (and others) lives every single day. This is a statement of fact.

But the sentiments expressed by Lord et al recognise that even where childhood autistic symptom presentation were often severe and 'disabling', that does not mean that this will always be so for some people as they age and mature. It draws attention to the idea that whether through the process of maturation, results of intervention or other increasingly used terms like 'masking', the presentation of autistic signs and symptoms can and do change both in frequency and intensity. This idea of 'fluidity' in the presentation of autism is something that is beginning to percolate through the peer-reviewed domain. Whilst there is probably going to be a sizable contribution from issues like masking autistic signs and symptoms, there is also a realisation that people change and adapt whether in behaviour or cognitive style depending on issues such as their environment.

This line of thinking has implications. It has implications for the use of the term 'autistic identity' where people see the label/diagnosis as an essential part of who they are; much in the same way that discussions about autism and sexuality seem to be converging in a similar manner. It has implications for the provision of services, particularly those 'bean counter' discussions about autism costs over a lifetime (see here) and eligibility criteria for an increasingly finite pot of money and resources. It also has implications for the idea that autism rarely exists in some sort of diagnostic vacuum (see here), and an intriguing question about whether, as overtly presented autism signs and symptoms wane for some, other important symptoms/conditions instead become more prominent. Y'know, like anxiety (see here) and/or depression (see here) or others (see here and see here)? And I'll again throw in some research on how 'being largely free from symptoms' might also impact on other important issues related to autism (see here) mentioned in a post not-so-long-ago on the topic of depression and autism (see here).

Oh, and there's more longitudinal investigation from this research group [2] too, including the quote: "Findings suggest that some older adolescents and adults with ASD may not exhibit the same difficulties observed in young children with ASD". Discuss.

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[1] Lord C. et al. Autism spectrum disorder. Lancet. 2018 Aug 2. pii: S0140-6736(18)31129-2.

[2] Bal VH. et al. Autism spectrum disorder symptoms from ages 2 to 19 years: Implications for diagnosing adolescents and young adult. Autism Res. 2018. Aug 12.

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Systemic Integral Disorder: linking autism and schizophrenia?

Martial arts gradings call for my brood today (and well they should) so I'm gonna be fairly brief and introduce the paper by Haoran George Wang and colleagues [1] for your reading pleasure today alongside the concept of 'Systemic Integral Disorder' (SID) as a potential bridge between the diagnoses of autism and schizophrenia.

I'm always a bit wary of grand over-arching theories or universal conceptual 'break-throughs' when it comes to autism simply because the inevitable hype which follows such descriptions almost always misses some important points concerning heterogeneity (plurality) and the impact of accompanying comorbidity which seem to occur quite frequently for people on the autism spectrum. Carrying such preconceptions, I was therefore a little guarded in accepting the Wang findings outright.

Acknowledging that there is some history when it comes to autism and schizophrenia (see here) and how views and opinions change over time (see here), I am coming around to the idea that autism research might have been a little hasty in burning all the bridges connecting autism and schizophrenia. As per my discussions on the Lugnegård findings [2] (see here), work from the likes of Mildred Creak and colleagues [3] has been an unfortunate casualty of the division between the conditions and the terminology used at the time. The idea that a diagnosis of autism may not be protective against future development of schizophrenia or conditions linked to schizophrenia (see here) is also gaining momentum. This has some potentially very important implications for things like screening for example (see here).

The focus on structural genetics potentially also linking the labels autism and schizophrenia by Wang et al is interesting if a little insular in terms of things like the growing evidence base potentially linking shared epigenetic mechanism for example, to the conditions (see here). That also the idea of SID might very well overlap with something like the RDoC initiative is something else to consider.

Music: Overload by the Sugababes.

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[1] Wang HG. et al. Genetic and Developmental Perspective of Language Abnormality in Autism and Schizophrenia: One Disease Occurring at Different Ages in Humans? Neuroscientist. 2015 Feb 16. pii: 1073858415572078.

[2] Lugnegård T. et al. Asperger syndrome and schizophrenia: Overlap of self-reported autistic traits using the Autism-spectrum Quotient (AQ). Nord J Psychiatry. 2014 Nov 12:1-7.

[3] Evans B. How autism became autism: The radical transformation of a central concept of child development in Britain. Hist Human Sci. 2013 Jul;26(3):3-31.

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Wang HG, Jeffries JJ, & Wang TF (2015). Genetic and Developmental Perspective of Language Abnormality in Autism and Schizophrenia: One Disease Occurring at Different Ages in Humans? The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry PMID: 25686622

The stability of an Asperger syndrome diagnosis

"Asperger Syndrome, when considered as an ASD/PDD [autism spectrum disorder/pervasive developmental disorder] diagnosis, was fairly stable into adulthood, but there was a significant increase over time in cases no longer meeting criteria for an ASD diagnosis according to the DSM-IV, or AS according to the Gillberg criteria".

The night is darkest just before the dawn.

That was one of the primary conclusions made in the paper by Adam Helles and colleagues [1] who prospectively followed a group of males diagnosed with Asperger syndrome (AS) in childhood into adulthood covering a period of some 20 years. I believe the starting point of this study has been seen before in the peer-reviewed literature in the paper by Cederlund & Gillberg [2] (open-access here) (a paper which takes me back to my own PhD days with it's important influence to some of my work). Other follow-ups have also been reported [3].

Looking at the diagnostic stability of AS, Helles et al noted that compared with baseline where all participants fulfilled diagnostic criteria, at follow-up (two follow-ups actually) there was a "significant decrease in the rate of cases fulfilling any PDD diagnosis according to the DSM-IV, from 91% at T1 [time 1] to 76% at T2 [time 2] in the 47 cases followed up twice". The decline in cases according to the Gillberg criteria was even more stark (82% at T1 and 44% at T2).

Researchers also noted a few other potentially important points in their findings such that: "Severity of autism spectrum symptoms at T1 was the main predictor of diagnostic stability at T2" and a fifth of those who met criteria for DSM-IV criteria for a PDD diagnosis "did not meet DSM-5 ASD criteria although they had marked difficulties in everyday life". This last point has been mentioned by other authors (see here).

There are a few ways one could take the Helles findings. One could see it as further evidence of the fluidity of presented symptoms when it comes to the autism spectrum as per other discussions in this area (see here). You might even view it as an extension of all that chatter on something like differing developmental trajectories along the autism spectrum (see here) or 'optimal outcome' and autism (see here) albeit without the focus on early intervention as potentially being involved (see here) as far as we know. Indeed, one has to wonder whether for those not meeting the diagnostic criteria as they age and mature, this may in part be because of the various strategies learned over a lifetime to overcome some of the barriers posed by the diagnosis?

But I can also see how for some people such research might be less well-received particularly when added to the 'disappearance' of the term Asperger syndrome from the latest revision of DSM (DSM-V). The paper by Spillers and colleagues [4] described concerns about "identity, community, the cure movement, and services" following the DSM-5 changes when talking to people on the autism spectrum. I wonder how the Helles findings on 'falling out of the spectrum' diagnostically speaking for some, might have similar tones if and when discussed.

Accepting that the Helles findings were eventually based on quite a small participant group and their insinuation that not reaching the diagnostic thresholds for something like Asperger syndrome does not imply a life free of some of the more 'disabling' aspects on and around the diagnosis (yes, including various comorbidity), I do think there is more to see in this area. The realisation that we know so little about the autism spectrum in the long-term [5] and how behaviours ebb and flow, that our systems of diagnosis might not necessarily be as robust as we want them to be (see here) and the continued alliance between diagnosis and service receipt excluding many at the diagnostic periphery all come into play. With all the research data collected down the years, one suspects that with a little bit of organisation and willingness to plough some financial and other resources into this issue, further insight into exactly how stable an autism diagnosis might be and for who should be fairly readily available...

Music to close, and having enjoyed the impressive tones of Sheryl Crow last evening, a song most parents will have a heard a few times: Real Gone.

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[1] Helles A. et al. Asperger syndrome in males over two decades: stability and predictors of diagnosis. Journal of Child Psychology and Psychiatry. 2014. 3 October.

[2] Cederlund M. & Gillberg C. One hundred males with Asperger syndrome: a clinical study of background and associated factors. Dev Med Child Neurol. 2004 Oct;46(10):652-60.

[3] Cederlund M. et al. Asperger syndrome and autism: a comparative longitudinal follow-up study more than 5 years after original diagnosis. J Autism Dev Disord. 2008 Jan;38(1):72-85.

[4] Spillers JL. et al. Concerns about identity and services among people with autism and Asperger's regarding DSM-5 changes. J Soc Work Disabil Rehabil. 2014;13(3):247-60.

[5] Howlin P. et al. Cognitive and language skills in adults with autism: a 40-year follow-up. J Child Psychol Psychiatry. 2014 Jan;55(1):49-58.

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Adam Helles, Carina I. Gillberg, Christopher Gillberg, & Eva Billstedt (2014). sperger syndrome in males over two decades: stability and predictors of diagnosis Journal of Child Psychology and Psychiatry : doi: 10.1111/jcpp.12334

Autism and optimal outcome: the continuing saga

I think it's fair to say that the paper published by Deborah Fein and colleagues* (discussed in this post and this post) was a bit of a game-changer when it comes to how we view the autism spectrum conditions.

Describing a group of children originally diagnosed as being on the autism spectrum and then "losing all symptoms of ASD in addition to the diagnosis, and functioning within the nonautistic range of social interaction and communication", there was plenty of comment on this optimal outcome study at publication. Some commentators at the time seemed to go out of their way to try and shred this bit of science and reinforce the "autism is always lifelong" line. Even now an expression of doubt remains of any notion of 'autism recovery'. Note my use of the singular - autism - when it comes to describing the condition in those previous sentences.

Is it draughty in here? @ Wikipedia 

In some respects, I can see why the Fein paper was treated the way it was in some quarters. With all the due respects to our thriving media, to say that autism (or at least the diagnosis and diagnostic elements making up the diagnosis) might not in some cases be as set in stone as we all might have first thought, carries a significant risk that autism - all autism - might be just viewed as some passing developmental phase. It's not by the way.

It all boils down to generalisation and, as we've witnessed in recent weeks when it comes to the depiction of mental health (see this headline), how generalisation can often be so very damaging.

To reiterate from the original Fein paper and quote from the accompanying journal editorial** "They conclude, rather modestly, that these results ‘‘substantiate the possibility of optimal outcome,’’ demonstrating that some children with a clear early history and accurate diagnosis of ASD do indeed move into the entirely normal range of social and communication development later in childhood." I've underlined the word 'some' to stress that they weren't generalising to everyone with autism. Some.

After that very long-winded introduction, I'm talking today about some of the follow-up work that has been published on these optimal outcomers in relation to their wider presentation including academic ability. The paper by Troyb and colleagues*** adds to the interest in this group suggesting that when it came to "measures of decoding, reading comprehension, mathematical problem solving, and written expression" the optimal outcomers were more similar to 'typically developing' peers than those with a diagnosis of autism which puts them under the 'high-functioning' description of presentation.

The paper by Eigsti & Fein**** likewise reported that when it came to pitch discrimination (see here for more details) "Unlike an ASD group, which shows heightened pitch discrimination, the Optimal Outcome group's abilities do not differ from those of typically developing controls". This based on the suggestion that pitch sensitivity might be enhanced among (some of) those with high-functioning autism*****.

If one were to base the judgement of optimal outcome on these studies alone, you may very well get the impression that autism was just a passing phase for these children, and seemingly left little or no mark on their subsequent development and performance skills.

But things are never so straight forward. And to think that autism - defined as a disorder of early development - with its heightened risk of a range of other comorbidities, even if now removed from the developmental equation would not have some bearing on future development is perhaps a little too narrow a view to take.

Take for example another paper by Troyb and colleagues***** looking at executive functioning (EF) in those optimal outcomers. Another rather long quote I'm afraid: "Despite their average performance, however, the OO [optimal outcome] and TD [typically developing] groups differed on measures of impulsivity, set-shifting, problem-solving, working memory, and planning, suggesting that the OO group does not have the above-average EF scores of the TD group despite their high-average IQs". In other words, allowing for the still quite small numbers of participants in these studies and their cognitive functions, issues seem to remain, at least in childhood.

If I were to get even more 'psychological' with this topic, I might also show you the paper from Naigles and colleagues****** whose title - 'Residual difficulties with categorical induction in children with a history of autism' - sums up my argument that the more visible aspects of autism might indeed have vanished into the diagnostic ether, but that does not mean that typical developmental service has just resumed. Likewise based on the data from the paper by Kelley and colleagues******* on residual language issues (in areas of pragmatic and semantic language comprehension) and that from Tyson and colleagues******** on language and verbal memory in optimal outcomers.

I'm not trying to reverse my original assertion that the Fein paper was a game-changer based on these evidence. I still see the work of Fein and colleagues as being potentially, some of the most important work ever done on autism; big words I know. I still also see those optimal outcomers as carrying some of the most important data about autism. And harking back to my highlighting the singular term 'autism', how the optimal outcomers are some of the strongest evidence yet for the concept of 'the autisms' which I seemingly keep going on about in every post.

But alongside, there is the realisation that autism is potentially much more than just the triad (or dyad) of symptoms that we've diagnostically boiled it down to. Optimal outcome? The mum in this newspaper article talks about "shadows left behind from his autism". I was also, for example, going to do a separate post based on the paper by Leonard and colleagues********* in relation to motor development and autism. Something along the lines of how even Kanner in his original writings about autism, hinted that autism might be so much more than just a triad of symptoms. But since I'm here already with this rather long blog post, let's just say autism, sorry the autisms, might be so much more than what we currently call it.

I'm going to close this post with a few things I'd still like to see from the optimal outcome data. The obvious question is: who are the optimal outcomers and indeed, what makes them different from other children on the autism spectrum? I'm not necessarily just talking about overt clinical presentation or scores on some psychometric tool but rather biologically, genetically, epi-genetically, microbiomic-ally(?) who are they and what makes them optimal outcomers?

I'd like to know more about the ways and means they went towards their path of optimal outcome. Are we talking about some spontaneous arrest of autistic traits similar to what might be expected in an infection-based model of presentation or something rather more gradual? Are we talking about the effects of early behavioural intervention, pharmacotherapeutic intervention and/or all those myriad of so-called complementary 'biomedical' interventions?

Perhaps more in the long-term, I'd like to know how does optimal outcome translate into the 'real world' when it comes to transitioning from child to adult. Does it mean a better shot at good educational achievement, a decent job, a living wage, independent living, the option of a family, a healthy life relatively free of medication or ill-health? And what happens to the various comorbidities?

Questions still remain about optimal outcome in relation to autism. But I'm not taking anything away from the pretty comprehensive picture that is already being drawn about optimal outcome occurring in cases of autism.

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* Fein D. et al. Optimal outcome in individuals with a history of autism. J Child Psychol Psychiatry. 2013 Feb;54(2):195-205.

** Ozonoff S. Editorial: Recovery from autism spectrum disorder (ASD) and the science of hope. J Child Psychol Psychiatry. 2013 Feb;54(2):113-114.

*** Troyb E. et al. Academic abilities in children and adolescents with a history of autism spectrum disorders who have achieved optimal outcomes. Autism. 2013 Oct 4.

**** Eigsti IM. & Fein DA. More Is Less: Pitch Discrimination and Language Delays in Children with Optimal Outcomes from Autism. Autism Res. 2013 Aug 8. doi: 10.1002/aur.1324.

***** Troyb E. et al. Executive functioning in individuals with a history of ASDs who have achieved optimal outcomes. Child Neuropsychol. 2013 Jun 3.

****** Naigles LR. et al. Residual difficulties with categorical induction in children with a history of autism. J Autism Dev Disord. 2013 Sep;43(9):2048-61.

******* Kelley E. et al. Residual language deficits in optimal outcome children with a history of autism. J Autism Dev Disord. 2006 Aug;36(6):807-28.

******** Tyson K. et al. Language and Verbal Memory in Individuals with a History of Autism Spectrum Disorders Who Have Achieved Optimal Outcomes. J Autism Dev Disord. 2013 Aug 28.

********* Leonard HC. et al. Motor development in children at risk of autism: A follow-up study of infant siblings. Autism. 2013 Oct 7.

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Troyb E, Rosenthal M, Eigsti IM, Kelley E, Tyson K, Orinstein A, Barton M, & Fein D (2013). Executive functioning in individuals with a history of ASDs who have achieved optimal outcomes. Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence PMID: 23731181

Optimal outcomes and autism continued

My word. That paper by Prof. Deborah Fein and colleagues* (open-access) which I blogged about last week has certainly made a splash both in the media and cyberspace. Opinions abound it seems about what the paper said, what the paper didn't say and what the implications of an 'optimal outcome' (OO) group might mean for autism spectrum disorders, its description, its nature and how it is perceived more generally.

I've followed quite a few of the opinion pieces on the Fein paper which have ranged from caution to enthusiasm and everything in-between. Some of the discussions it seems, have actually tended to drift away from what was actually reported in the paper into areas such as semantics and use of the words 'grow out of'. Even in one piece discussion of 'cure' (see here) which does rather stretch the Fein findings a little.

Whilst reading this body of literature, I've been constantly reminding myself of the accompanying editorial by Sally Ozonoff** and the very level way that she has presented/discussed the Fein results; well worth a read in my opinion, as is the brief response from Prof. Uta Frith on the paper (see here).

But whilst all attention was focused on the OO group paper by Fein, another smaller paper which included Fein as part of the authorship group was also published last week by Naigles and colleagues*** titled: Residual difficulties with categorical induction in children with a history of autism.

I don't necessarily want to go through this paper with a fine-toothed comb or anything because (a) I know very little about categorical induction (see here for a brief description) and (b) I have very little professional interest in categorical induction. What I perhaps do want to stress though is the suggestion from the Naigles paper - which looked at categorical induction skills in an OO group compared also with an autism and asymptomatic control group - that "even very high functioning individuals with autism, or with an OO, still exhibit residual difficulties with category knowledge and extension". I'm not by the way, getting into any debates about 'functioning' and autism.

What are the possible implications of the Naigles findings? Well, without putting words into anyones mouth and accepting that there is still more to come from the Fein OO research, one possible suggestion is that losing the diagnosis of autism - 'recovering' if I am to use the words of Dr Ozonoff - is not necessarily an absolute thing. Or in other terms, just because the diagnostic label of autism goes, does not imply that the difficulties around autism suddenly vanish into the ether.

In my post last week, I kinda eluded to the fact that autism - the autisms - or rather the presentation of autism in real-life is not necessarily just the sum of the dyad (social affect + restricted interests/repetitive behaviours). One can often also see lots of peripheral signs and symptoms, as well as heightened risk of various comorbidities, both behavioural and somatic, which can and do impact on overall quality of life. That and the fact that autism is a developmental condition, so even if symptoms are no longer present in a clinically recognisable fashion for whatever reason, still implies that development was once 'disrupted' and at the moment, no-one is able to adequately speculate on any longer term effects that this disruption may have.

What the Fein OO and Naigles findings also stress is that autism, the label autism, is just that: a label. That label, though subject to change this year (2013), is a diagnostic label and as with many generalised, compartmentalising diagnostic labels, can never really provide a true, accurate and complete reflection of all the people carrying that label, with all their heterogeneity.

A few final words are needed about those 34 children/young adults and their families in that optimal outcome group originally described by Fein. In among all the discussions on 'growing out of', 'recovery' et al and the often disapproving ways that some commentators have implied in their writings about this group, we should remember that these individuals represent perhaps one of the most important cohorts in autism research at the moment. We therefore need to show them a little more respect...

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* Fein D. et al. Optimal outcome in individuals with a history of autism. Journal of Child Psychology and Psychiatry. January 2013.

** Ozonoff S. Editorial: Recovery from autism spectrum disorder (ASD) and the science of hope. J Child Psychol Psychiatry. 2013; 54: 113-114.

*** Naigles LR. et al. Residual difficulties with categorical induction in children with a history of autism. J Autism Dev Disord. January 2013.

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Naigles LR, Kelley E, Troyb E, & Fein D (2013). Residual Difficulties with Categorical Induction in Children with a History of Autism. Journal of autism and developmental disorders PMID: 23321802

Some children lose their autism diagnosis

"Autism is a lifelong condition".

That's what I was always led to believe when I was a fresh-faced undergraduate student being taught developmental disorders 101. Indeed the recent autism myths and facts tweeted by the UK National Autistic Society (NAS) confirmed this fact; to quote: "#AutismMyth: A child with autism will grow out of the condition". Having said that I was also told that every person with autism also lacked a Theory of Mind (ToM) such was the research climate of the time.

Yucca @ Wikipedia  

With this in mind, I came across a recent piece which seems rather at odds with the conventional wisdom on the lifelong aspect based on the results of the study by Deborah Fein and colleagues (open-access)*. They reported that in a small, well-defined group where a diagnosis of autism was historically recorded and subsequently confirmed by case review, the symptoms of autism had all but abated. I think we might have heard murmurs of this study previously as per this article in the Telegraph from 2009.

Regular readers might remember that I've already touched upon this rather delicate area of research in a few previous posts on this blog: the bloomers post (here) and the 'can you grow out of autism' post (here).

That and some continued speculation on the relative (in)stability of an autism diagnosis (here) as a result of papers like this one from Kleinman and colleagues** which is only likely to become more of an issue with the arrival of the DSM-V and its detailing of a level of 'severity' of presented symptoms at time of assessment.

A few observations from the Fein study based on the paper abstract and the press release:

• "Optimal outcome" participants (n=34) previously in receipt of a diagnosis on the autism spectrum were included for study alongside matched participants (age, sex) with high-functioning autism (n=44) and those asymptomatic for autism (n=34).
• Early diagnostic reports for the optimal outcome group were reviewed, twice it seems (one time blinded) just to make sure that they did in fact present with autistic features. Groups were compared across various parameters looking at cognitive and more autism-specific behavioural traits.
• Results: social issues were apparently slightly milder during early infancy in the optimal outcome group but on other important measures of the triad (sorry dyad) no real differences between them and the high-functioning autism group.
• That and the fact that the optimal group showed, at the time of testing, no specific issues which might indicate an autism spectrum diagnosis in line with their regular schooling and no autism-specific statement of SEN (as we call it here in Blighty).

I should point out as per the quote from Tom Insel current director of the US National Institute for Mental Health (NIMH) on the press release, this study seems to be part of a wider initiative which should tell us a little more about why this group of children might have lost their autistic presentation and diagnosis.

As was perhaps expected, this study has generated quite a bit of press interest as per headlines like this one and this one. I'm sure everyone has their own opinion to account for these results stretching from intervention to infection to symptom profile - the rise of the autism(s) indeed. Even Prof. Fein has previously speculated on some possible reasons why*** and here**** too.

Whilst we await further results in this area I think it is worth reiterating a few important points: (a) this was a relatively small trial in terms of participant numbers, crying out for independent replication, (b) the authors are not suggesting that everyone 'grows' out of autism as if it is some kind of passing developmental phase, and (c) autism is not just the sum of its dyad (social affect + restricted interests/repetitive behaviours) in terms of the impact of peripheral symptoms (e.g. anxiety and stress reactions) and very importantly all that elevated risk of comorbidity.

But having said all that neither am I going to take away from the potential importance of this study and its focus on endophenotypes...

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Extra note (16/01/13). A quote from the paper: "The purpose of the current study was primarily to demonstrate the existence of a cohort who had clear autism at a young age and no longer demonstrated any significant autistic impairments. The data clearly support the existence of this group."

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* Fein D. et al. Optimal outcome in individuals with a history of autism. Journal of Child Psychology and Psychiatry. January 2013.

** Kleinman JM. et al. Diagnostic stability in very young children with autism spectrum disorders. J Autism Dev Disord. 2008; 38: 606-615.

*** Helt M. et al. Can children with autism recover? If so, how? Neuropsychol Rev. 2008; 18: 339-366.

**** Sutera S. et al. Predictors of optimal outcome in toddlers diagnosed with autism spectrum disorders. J Autism Dev Disord. 2007; 37: 98-107.

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Deborah Fein, Marianne Barton, Inge-Marie Eigsti, Elizabeth Kelley, Letitia Naigles, Robert T. Schultz, Michael Stevens, Molly Helt, Alyssa Orinstein, Michael Rosenthal, Eva Troyb, & Katherine Tyson (2013). Optimal outcome in individuals with a history of autism Journal of Child Psychology and Psychiatry : http://onlinelibrary.wiley.com/doi/10.1111/jcpp.12037/abstract

Six developmental trajectories, autism and bloomers

"If you've met one person with autism, you've met one person with autism" is how the saying goes. Heterogeneity is a keyword accompanying most descriptions of autism spectrum conditions; that and the fact that comorbidity is a mighty complex thing when it comes to presentation and interaction with core autism features.

Enter then a study by Christine Fountain and colleagues* (full-text) and the suggestion that from diagnosis in early infancy to aged 14 years old, children with autism spectrum conditions are likely to fall into one of six developmental trajectories related to their symptom presentation and progression. Perhaps even more surprising is the suggestion that within one of these trajectory groups, about 10% of children experience "rapid gains", blooming and outgrowing their severe disabilities by adolescence according to some of the media reports. Interesting isn't it?

The paper is open-access but here is a short summary of the findings:

• Group based trajectory modelling was carried out based on the core triad of symptoms for 6975 children with autism identified through the California Department of Developmental Services (DDS) records.
• Core symptoms of autism were assessed based on a Client Development Evaluation Report (CDER) which whilst not diagnostic for autism, has items covering the domains of communication, social interaction and repetitive behaviours. Several CDERs for each participant provided a longitudinal measure of how symptoms developed over time.
• Six groups were modelled from the cumulative data and grouped high to low based on functioning within the triad of domains.
• The results: based on the CDER scores for the communication domain, all groups showed an improvement in communicative function at 14 years compared with 2-3 year old baseline scores. Where you started in terms of 'functioning' seemed to determine where you ended up: more able children finished with better scores at study end. This was true aside from one group, termed 'bloomers', who showed some quite astonishing improvements in communicative function crossing over other group profiles and peaking at the time puberty would be expected before plateauing slightly. Same scenario for the social area trajectory. Group scores for repetitive behaviours were less uniform, with several groups actually showing a greater frequency of such behaviours over time and maturation as per other studies (here and here).
• There was some noticeable heterogeneity between participants and groups and intellectual / learning disability also seemed to play a hand in outcome.
• What were the characteristics of 'bloomers'? Well, generally-speaking, aside from presenting with quite severe problems in communicative and social areas at an early age, they were more likely not to have intellectual disability comorbid and perhaps have mothers who were white and quite well-educated. I'm not totally impressed by these last socio-economic factors and their involvement, but can perhaps see why they might be included in the analysis.

As the authors note, this study is a bit of a first in that it collected lots of consistently-derived data over quite a long period of time charting childhood for quite a lot of children diagnosed with autism. Following on from another quite recent paper asking about whether it is possible to grow out of autism, the answer from this study is that at least for a proportion of children who start with quite severe autism, the prospects for improvement are potentially really quite good over the period of childhood. Puberty however seems to offer its own little challenges as many parents of children with autism can testify.

There are however a few gaps not covered in this latest paper. So for example, how many children used some kind of intervention, be it educational, behavioural or biomedical and what effect this might have had on core symptom presentation; whether other important comorbidity such as epilepsy or seizure-type disorders had any bearing on symptom progression; and more practically whether behavioural scores relating to the triad of autism symptoms reflected real-world progression in terms of educational attainment and use or loss of the diagnostic label of autism.

I have to say that I am really interested in this paper. Interested because of the close developmental trajectory across both language and social domains noted in this paper as conceivably offering support for the proposed dyadisation (is that a real word?) of the diagnosis of autism. But mainly interested in the 'bloomer' category of children across the different domains.

All participants were diagnosed with autism, but I wonder about this bloomer group and whether their 'autism' was somehow different in terms of something mimicking a more classical presentation of the condition. Without trying to sound too contentious, the first thing that passed my mind was infection as being potentially related. Encephalitis, meningitis and other related conditions affecting children early and leading to the kind of symptoms noted in the current paper. As time goes on, the infection passes, the brain taps into its fantastic plasticity properties and hey presto, symptoms start to abate - at least to some degree.

Post-encephalitis cases of autism have been reported down the years (here and here) and whilst correlation does not imply causation, autism cases overlapping with the seasonality of viral meningitis have also been recorded. Of course there are lots and lots of other potential infections which could also show some involvement as per the suggestion 40 years ago now linking autism and rubella. I made a suggestion a post back about looking at T.gondii antibodies in relation to autism given the quite startling links being made with other conditions. Who's to say that they might also show some involvement? (Dare I even mention PANDAS or is it called PANS now?)

Those that read this blog will know that I am a fan of looking at endophenotypes in relation to autism and other conditions. The way I see it is that the categories reported in this study are ripe for this 'phenotype' kind of approach and in particular a detailed inspection of those bloomers in relation to the immune system, mitochondrial function, overlapping autoimmune conditions, even bowel symptoms, alongside lots and lots of other parameters just to see if there are any potentially important differences.

I don't want to lose sight of the 'individuality' that accompanies autism and its presentation despite the evidence presented by Fountain and colleagues. The move however to recognising that a group of children on the autism spectrum may possess a slightly different developmental trajectory to others is something that really should start to make people sit up and ask 'who' and 'why'?

* Fountain C. et al. Six developmental trajectories characterize children with autism. Pediatrics. April 2012.
DOI: 10.1542/peds.2011-1601