Not every child who struggles socially is autistic

One of the more heartening things that has happened in the last 20 years or so in child development/ education is a recognition of the range and irreverence of needs associated with autistic spectrum disorders. Children have benefited from more targeted intervention, and families have been helped to better understand their children’s perspectives and needs. It’s not perfect, but overall it’s a good news story.
One problem with this increased awareness, however, is that any child who struggles to interact socially with their peers has a good chance of attracting an autism-related label, either informally at school, or formally through a clinic. The trouble is that a lot of these kids DON’T have ASD, and mislabelling them can result in several harms.

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Harvard expert supports #WDDTY claims. Really

So last week I wrote a moderately widely read blog, mocking “what doctors don’t tell you” for claiming that UK children suffer harm from environmental toxins, and advising parents to avoid tap water and toothpaste. When these claims got reprinted in Families magazine, and ended up in my children’s school bags, I was mortified. Well, this paper https://docs.google.com/file/d/0Bw0QsePOF36RWGRJcmZST0tkX28/edit?usp=docslist_api came out on Saturday in the Lancet neurology. It’s by Grandjean and
Landigran, of the Harvard school of public health, and broadly supports the claims that I’ve been rubbishing when made by “what doctors don’t tell you”. The language is a bit more moderated, and there aren’t any specific lifestyle implications drawn, but the causal link between the presence of these toxins (including fluoride, manganese, and solvents) in the environment, and an epidemic of neurodevelopmental conditions, is repeated claimed. So am I, as our 1980s playground would have it, “sussed”?
Now, I’m not qualified to do a thorough debunking of this paper, but I wanted to make a couple of observations. Firstly, I don’t think we’re in a neurodevelopmental epidemic. The US has an epidemic of ADHD diagnosis, but that’s a different matter, which I’ve explored before.
Secondly, the paper reports papers chiefly from developing nations, with far less stringent restrictions on environmental exposure that exist in Europe and the US. Of course it still matters if Brazilian children are exposed to poisonous concentrations of manganese, it matters immensely, and the authors should be shouting from the rooftops about the plight of the global poor.
Instead they extrapolate their shocking findings to the US, where exposure is far lower, and the testing in the papers they cite is by that notorious source of junk science, hair toxin analysis. I can’t see any UK studies at all. They show no evidence of increased toxin exposure in clinically diagnosed populations.
So to be clear, this paper is claiming that an epidemic that may or may not be happening in one part of the world, is due to a set of toxins which are in vastly higher levels in a completely different part of the world, where this epidemic definitely isn’t happening. Either Brazilian manganese is causing ADHD in Milwaukee, or this is a load of speculative waffle.
So the paper is pretty transparent speculation dressed up as paradigm shifting insight, and WDDTY isn’t off the hook, but there’s a question and an implication here.
Firstly, why did the Lancet publish this? Would they have published the same words if submitted from Streatham technical college, instead of the mighty Harvard? If not, then they are guilty of precisely the “big beast” bias that their editor, Richard Horton, has been so critical of recently.
Whatever the reason, the implication of this for me is this: as with Aric Sigman’s recent pwning of the UK medical establishment over screen time shows, the rationalist cannot stand within the cool battlements of science, hurling studies and evidence dispassionately at her unenlightened opponents: the barbarians, if I can stretch this metaphor a tad further, are thorough the gates and sharing the high table. This makes debunking bad science riskier, tougher and less of a spectator sport. It also makes it more important.

Is autism necessarily a lifelong disorder?

When I started in Lambeth, I inherited the follow-up of a young man called Jamal. I was in a hurry the day I met him, and just read the last year or so of notes. I reviewed his ADHD control, and got to know him and his mum.
Jamal was charming, bright and funny. I mean properly, intentionally funny, in a wry, self-aware way that led me to jokingly suggest by the end of the visit that he consider a career in stand-up comedy (we don’t have enough Somali stand-ups from Stockwell).
So I was rather blown away, when leafing through his old notes, to find that he had been diagnosed with autism aged 4. We’ve always had a very good set-up for autism/Asd diagnosis, and this assessment seemed pretty robust.
Since Jamal wasn’t presenting as remotely autistic now, this raised a few questions for me. Was the diagnosis wrong? Had he been cured somehow? And what did this mean for our confident pronouncements at the point of diagnosis?

The accepted wisdom is that autism/Asd is, in the words of the National Autistic Society, a ‘lifelong neurodevelopmental disability’. What I want to argue is that what we know about the condition, about how children develop, and about the nature of diagnosis, do not support this unequivocal statement.

First, two disclaimers. I’m not talking about an autism cure- I’m not sure such a thing exists as most people understand it, as I hope will become obvious. Secondly, I’m not a researcher, but I hope researchers might read this and tell me what I’ve got wrong.
There are three points that to me lead to the conclusion that an autism diagnosis is not always for life.

1) Autistic behaviours and traits are continuously distributed in the population. This if a point that parents grasp instinctively- in pretty much every family with an Asd  child’s there’s an obsessive uncle, or an anxious gran  who wouldn’t fit with autism criteria, but have some difficulties. It’s an idea that had good evidence (see this paper for a good open-access example), and has spawned the concept of the.broader autism phenotype. One implication of this is that when we diagnose autism, what we are saying is that the traits and behaviours are so exaggerated that they cause significant distress and difficulty, not that the child is a member of a distinct sub-set of humanity. Another is that there is genuine grey area between ‘neurotypical’ and autistic brains. It amazes me that this idea is not universally accepted among professionals, but only last week Cathy Lord from the DSM task force refuted it (unconvincingly, in my view) at a conference in London. In the next section I need to explore why the idea of a discontinuity between autistic and neurotypical people persists.

2) We can only measure ‘autisticness’ indirectly
A huge but worthwhile amount of intellectual energy had gone into finding the common cognitive feature that underlies autistic behaviours. This effort may be, as Lynn Waterhouse argues, unsuccessful, but I think there has to be an essence of ‘autisticness’ in order for the diagnosis to hang together at all. There may be an occasion to deconstruct autism altogether, but this isn’t it.
The problem is that we can’t directly measure this essence, and instead rely on its behavioural manifestations to diagnose. We measure and observe difficulties in social communication and interaction, record rigid and repetitive behaviours, and, crucially, establish that these problems are disabling for the child.
Of course, this means that we are sometimes wrong, even with the very best assessments. After all, there is no scan we can do to confirm out clinical impression, and no one feature is unique to autism, so making the diagnose feels like doing a puzzle of an elephant: each piece is frustratingly grey until you finally get the big picture.
But the more important point is deeper. For a given degree of autisticness, the degree of observable behaviour and impairment vary, according to the supportiveness of the environment, and the child’s own state of mind. Combine this with the continuous distribution and grey area arguments and you start to see some fuzziness at the edges of autism.

So why the discontinuity idea? It seems to me  from experience that as one progresses up a gradient of autisticness, there is a point where the levels of maladaptive behaviours sharply increase, as well as impairment. As the autisticness continues to increase the levels of behaviour continue to increase, but not as fast as at this crucial point which is, of course, our grey area for diagnosis. So if you take two populations, one diagnosed and one not, it can look very much like they are distinct, not continuous in their profiles, as long as you ignore the grey areas. I’ve tried to illustrate this here:  Over-simplified attempt to capture the relationship between autisticness.

So I maintain that autisticness is a dimensional, not categorical, characteristic of developing brains. The next question is whether it is stable over time.

3) Children develop!
This seems like a candidate for most obvious statement ever made. The thing is that the accepted wisdom in paediatrics is that, because autism is a genetic disorder (albeit multi-gene), while the child will develop his capacities, the autism will remain unfixed and unmovable. This is based on the belief that autism is overwhelmingly (at least 90%) heritable, and that therefore an individual’s genes set their degree of autisticness in stone.

Unfortunately, recent data has challenged this assumption. If, as the recent JAMA paper suggests, the heritability is closer to 40%, the environmental influences become important, and some (but not all) may exert an ongoing and modifiable effect on autistic behaviours, impairment, and possibly even the elusive autisticness itself.  The problem is we haven’t a clue what these environmental factors might be, how many are ante-natal, still less which might be modifiable. But there seems to be evidence that these traits are not entirely stable in the general population, and studies of diagnostic stability in autism have widely varied in their findings, being lower in younger children (who have more developing to do). While this doesn’t show definitively that autisticness can change over time, I think it’s hard to argue that it is fixed in all children.

Conclusion

So autisticness is a dimensional variable of human development, which we can measure only  indirectly, and which leads to a variable degree of impairment. . The distinction between autistic and neurotypical is a nuanced one, with no objectively defined ‘cut-off’. Diagnosis is based on observation of behaviour and detection of impairment, and these vary over time, as does diagnostic stability and, potentially, autisticness itself.

What does this mean for Jamal? I suspect some of his autistic behaviours were more due to his inattention and language delay, but equally, it seems quite possible that he did have genuine autistic-like difficulties, that the diagnosis was both appropriate and helpful, and that his autistic difficulties have faded with time.

I’ve met a few other boys like Jamal, diagnosed with autism in early childhood and subsequently growing into a neurodevelopmental profile which doesn’t really fit with the diagnosis, although in all cases that I’ve seen, there are other issues.

Does this mean it’s a curable disorder? Well, no. A cure is an agent that will act on an identified pathology to eliminate it, and we are nowhere near that in any sense. What this model suggests is that there may be some movement along the ‘spectrum’, that a child may enter or leave the ‘grey area’ between diagnosis and normality, and that potentially we may get a handle on how to influence this movement. Potentially.

More importantly, what does this mean for what we should tell parents at the point of diagnosis? A diagnosis remains helpful in guiding therapy and behavioural intervention in the here and now, but I do think we need to be cautious about long-term prognostication, and avoid the word ‘lifelong’. As woolfenden et al point out, one needs to be particularly careful when diagnosing young children with associated cognitive impairment. I would add to this from my own experience that one also needs to be cautious when diagnosing very hyperactive young children, and able young people suffering social difficulties where an asperger’s profile is suspected.

So this is not a call for revolution, but a corrective to what I think of as a bit of medical hubris, the idea that we can discern from our clinical skills the deep structure of someone’s thoughts, and predict that this condition we detect will be with them to the grave.

As for Jamal, I asked him next time we met what he thought of this autism diagnosis. He look at his feet, and shrugged. I said that I didn’t think it applied to him anymore, and he grunted in a very un-Jamal way. But when he was leaving, he fixed me with his most dazzling smile:

‘so I ain’t autistic no more?’

‘no, I don’t think you are’

‘cheers doc!’

And off he went.

Care of autistic children & young people: NICE speaks

The emergence of NICE guidance has undoubtedly helped the less glamorous corners of healthcare to shout a little louder about the quality they are able to deliver. Having produced the sensible and clear guidance on diagnosis in 2011, a similar team led by Gillian Baird has come up with another document which I hope will be useful in the ongoing management of people with autism. The draft can be accessed here.
(two disclaimers: I know and respect Gillian, and I haven’t quite got round to finishing the full version of the guidance)
The guidance essentially reiterates the obvious point that health and social care have an ongoing duty of care to people with autism. They do not need to make the point that in many areas services for this population are woeful.

  • They want the environment to be adapted a far as possible for people with autism, they want all professionals working with this group to have (quite extensive) training.
  • They want us to consider a social-communication intervention for the  core features of autism. They are vague about the details, and consider is a pretty weak recommendation, but I think this reflects the evidence base.
  • CYP with autism to have a step wise assessment when they exhibit challenging behaviour,
  • First excluding modifiable factors such as transition, physical problems, and inadvertent reinforcement.
  • Second, performing functional behavioural analysis of the unwelcome behaviour.
  • Thirdly for anti-psychotics to be trialed under specialist supervision.

All of this is good stuff, in my view. My purpose in posting this is two-fold

Mainly I want people connected to autistic CYP to tell me what’s missing (and soon as the consultation closes tomorrow)

Also, I wanted to make the point that in the context of rapidly shrinking resources, those services that border on the responsibilities of other agencies suffer most. So in physical health, cancer and heart disease do well, in mental health psychosis services are rightly retained, and in social care child safeguarding is understandably top priority. So the messy, complex, long-term management of CYP with autism, which falls precisely between the remit of these areas (and others), will tend to suffer, We have begun to see this locally, and stories from elsewhere are all grim currently, although we simply don’t have a good picture of the state of services nationally.

This NICE guidance then, should act as a catalyst for improvement and integration. Sadly NICE is sharply curtailed in what they can force local commissioners to spend on their recommendations. For this reason it will require a concerted campaign by everyone concerned with the welfare of autistic people to get them implemented effectively at a local level. So this is, in a sense, a preliminary call to arms. Stand ready, folks.