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.

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6 thoughts on “Is autism necessarily a lifelong disorder?

  1. The idea of autism not necessarily being a lifelong disorder is a very interesting one but could you please provide us with more details as to how Jamal is not presenting as remotely autistic anymore? I suspect there is more to this than him just being charming, bright and intentionally funny, all traits, which are, I hope , not presumed to be inevitably excluded from an autistic person’s personality.
    That said, the points you make supporting your theory are certainly very relevant and I wholeheartedly agree with the first one.
    The second one certainly being the case at the present, as a layperson, I should be interested in the prognosis of autism researchers for diagnostic tools for autism staying this way, i.e. only measuring ‘autisticness’ indirectly.
    This brings me to your third point: I agree that children do develop and autistic behaviour might not be as fixed as we might expect. But why should this be an argument for a lesser degree of heritability of autism than previously assumed? Does the presence of certain genes in individuals always have to correlate with the same result of expression of these genes?
    Again, I am not a researcher and my experiences with autism are only personal. But I’m a member of a family in which several persons of normal to high intelligence with diagnosed or suspected autism are found across four extended generations with other family members possessing sometimes a few autistic traits. The latter supports evidence of a broader autism phenotype of which you spoke in your first point, which, in my opinion, also supports a strong heritability of autism, as seen in my family.
    Autism, accompanied by all the personal struggles and exasperating behaviour it causes but also its positive and sometimes quite funny traits has jumped across my family tree, sometimes firmly landing, sometimes only slightly touching a branch before moving sideways or across to a new generation.
    There’s my grandfather who would have turned 95 this year and who very rarely interacted with his children or grandchildren and whose voice I find difficult to remember because I heard him only speak so very infrequently.
    There’s my father, emotionally distant and lacking empathy and, during my youth, prone to frequent unexpected outbursts, which as an adult I now wholly understand and forgive , because as an autistic person he was certainly not equipped to share a household with several lively children.
    There’s my cousin, also avoiding eye contact and only engaging in the most functional of conversation, just as my nephew, his son.
    There’s my late brother, a veritable walking encyclopaedia of astronomy facts at 5 and mercilessly bullied in secondary school which he never completed regardless of his 130+ IQ.
    There’s me, who fared a little better than him because as a young girl I managed to conform better to society’s expectations of a ‘normal’ person until my coping strategies exhausted me so profoundly that my life ground to a complete halt in my mid-thirties.
    Then there are all other family members. Although most of them exhibit some mild traits, they are clearly neurotypical and could never qualify for a diagnosis. A gray zone which could be defined as a zone of ‘autistic’ doubt is not immediately apparent to me. I don’t see it in my family, nor in other people I’ve encountered in my life. I fully acknowledge of course that all this is anecdotal and not a research based observation and that even though the odds seem rather small, it is certainly not impossible for a person to exhibit autistic traits that are all in a diagnostic gray zone.
    I’ve since re-accommodated my life in function of my limitations as well as my abilities and I live very happily now with my two children. One of them is a very outgoing, empathic, emotionally intelligent and most definitely not autistic child. The other one is a quiet and sweet, sometimes stubborn teenager with an ASD diagnosis, resembling me in many ways. As a mother, I sometimes feel guilty for having passed on, albeit unknowingly at the time, this rather ambivalent genetic package deal to my child and potentially to both my children’s future progeny.
    In short, I would very much like the answer to your article’s title to be a definite ‘no’ and to discover in the future that my child received a diagnosis which does not fit any longer. I would also like to thank you for the careful wording of your article and making very clear from the outset that this is not an article about a potential cure but about issues with current diagnosis being too categorical and presuming to be definite.
    But having read your article, am I now right to conclude that most or even all of diagnostic criteria would have to be situated in the gray zone at the time of diagnosis in order for a person to be able to shift out of it towards ‘normality’?

  2. My dughter was diagnosed with PDD/NOS in 1984 although there was some discrepancy with her diagnosis. Developmental language disorder was also considered. Within 5 years she lost her diagnosis and has a normal outcome, graduated college, has a career in finance and has had a long time wonderful relationship with her boyfriend and many, many friends. Deborah Fein has found in her clinic that ‘normal’ or ‘optimal’ outrcomes are associated with normal to high IQ and a PDD/NOS diagonosis. 25% of children of her sample lost their diagnosis at followup.

    http://www.medpagetoday.com/upload/2013/1/17/jcpp.12037.pdf

    I’m not a ‘researcher’ either but I have been somewhat obsessed with autism research. I was invited by Dr. Manuel Casanvova the editor-in-chief of a new Open Access journal OA-Autism to submit two papers. OA-Autism has been accepting submissions for only three months. Dr. Casanova is a well known researcher, who is a grandfather of a boy dignosed with severe autism. He has served as an associate editor with several journals including the INSAR journal.OA-Autism has highly qualified board of associate editordm including many members of the MIND Institute in California as well as Ira Cohen and Margerat Bauman.

    I have two papers that have been accepted. A provisional PDF is aailable at the OA-Autism website. One paper involves the origins of de novo gene mutations in the genetically determined syndromes with an unambigous medicalcause. The second paper is a review of the role of the broad autism phenotype as a background genetic effect in gene by gene and gene by environmental causal mechanisms.

    http://www.oapublishinglondon.com/images/article/pdf/1371148174.pdf

    You can review the papers at:

    http://www.oapublishinglondon.com/oa-autism

  3. Pingback: paedspoliticsbiscuits | IQ testing in autistic toddlers predicts… IQ testing in autistic adults

  4. V interesting. Thanks.
    I also wonder if clever autistics also develop advanced coping mechanisms & perhaps making people laugh is one of the most sophisticated. Also, I read somewhere that Somalis as a culture don’t recognise autism as a condition. Are Somali families doing something in their children’s upbringing that other families could benefit from?

    • Hi

      Yes, clever autistics find ways round the problems, and thus manage, at least outwardly.
      The question of the Somali culture is interesting. There is often resistance to diagnosis in many cultures, but normally we can come to a shared understanding with families. As to whether the Somali families are doing anything especially right, is impossible to generalise, but Jamal’s family clearly helped him but treating him as normally as possible.

      • Thank you – that was my hunch. I’ve also found less of a ‘blame’ culture in my limited experience of Somali families especially with ‘out of control’ boys, a shrug of the shoulders from Somali mothers at the school gates and continued unconditional love and smiles, often met with English disapproval about ‘parenting’ and ‘boundaries’…

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