Diagnosing Diagnosis

The question of diagnosis, is a separate question from the existence of the thing that is being diagnosed. To put it another way: Whether someone has received a diagnosis or not, will not definitely tell you if that person has the condition. People without the condition may receive the diagnosis, and people without the diagnosis may have the condition. This is especially true of a condition like autism, which is currently still defined by its symptoms (though more is discovered every year about what causes those symptoms and how those causes may differ or be the same).

By Javier, via Flickr

All this may seem trite, or obvious to the point of redundancy. However, the process and consequences of a confirmed diagnosis is neither. In this post I’m going to introduce some of the factors that interplay with the role and importance of diagnosis, and why that leads to my disagreement with the popular view that Diagnosis Manuals should take such factors into account.

The first is insurance. In some countries, key treatments for autism are not covered by the Government, but by private insurers, and in many situations those insurers require a diagnosis before covering treatment. Requiring a diagnosis very early on in the process, puts understandable pressure of medical professionals to make a quick and early diagnosis. A quick and early diagnosis is not good practice, particularly for a condition like autism which requires a thorough consideration on other possible conditions and contributing factors before reaching an accurate (and therefore helpful instead of harmful) diagnosis.

Next we have education. Again, in some countries, getting adequate services at educational facilities requires a confirmed diagnosis. In other countries, services are provided based on actual needs of the child, independently of a confirmed diagnosis. Obviously, there will again be pressure placed on medical professionals – both by families and by themselves wanting to do the best by their patient – to reach a diagnosis that itself will help the child access services, even if the diagnosis is not as careful or accurate as they would otherwise require in their professional practice.

I’m not a fan of placing blame on “Big Pharma,” but it is important to note the potential and actual impact of the ability for pharmaceutical companies to influence medical practitioners and consumers directly. In the USA and New Zealand, it is legal for these companies to advertise directly to the consumer; this is not the norm internationally. There is concern that new drugs developed for conditions, encourages pharmaceutical companies to raise attention, concern, and ultimately diagnoses of those conditions, partly through creating paranoia and fear about what could happen to the otherwise undiagnosed individual.

All these factors, any one of which could pressure or persuade towards a diagnosis rather than towards caution and longer investigations into an individual, are further complicated by societal and cultural attitudes towards both diagnosis itself, and more generally towards autism. In some societies and cultures, diagnosis and autism carry very positive effects of finding answers, finding like-minded individuals going through the same challenges, and the freedom from guilt that the parents are somehow solely responsible for a child’s difficulties, allowing them to take positive and meaningful steps towards helping the child and the entire family.

In other societies and cultures, a diagnosis and autism are considered evidence of parental failure and of the child’s inferiority. The impact can be so extreme that the family may keep the child hidden and try to battle very difficult behaviours without adequate or any training and support.

All these factors are at play even before you take into account the difficulties a Diagnostic Manual faces purely in scientific terms of trying to identify the core and differentiating features of a symptom-defined condition like autism. The people who construct these Manuals must decide whether their criteria should only reflect known information on the condition, or should act as a forward-looking guide to how they think research should progress. They have to draw a line between what is and what is not relevant, to what severity, and in what combination. They have to figure out how to express the criteria in words that capture exactly what they mean, and nothing unintended.

As if all that wasn’t hard enough, they are also expected to take into account how their chosen words and criteria will impact on the people who receive the diagnosis. They are aware that insurers, educators, Governments, and pharmaceutical companies, as well as charities and various awareness and identity movements, are all interested and invested in the diagnoses they construct. In the vast majority of opinion pieces that I read leading up the DSM-5 changes, I encountered the public pleading and demanding that the people writing the Manual be mindful of such organisations and interest groups.

But I have come to wish quite the opposite, which may seem harsh or naive. The reason I wish the writers of these Manuals would ignore all factors other than pure scientific ones, is because they cannot control how all these other various organisations will react and change over time, and there is no consistent way to write a Manual that could capture and respond to so many and often contradictory concerns. Some of the interest groups put pressure in the direction of broader and looser diagnoses, other groups advocate for much tighter or even removal of entire diagnostic categories. Even if the makers of these Manuals could make key interest groups happier, they still cannot control for how individual doctors, families, and patients will view and react to diagnoses.

Surely the writers of Diagnostic Manuals should play their role – one of scientific accuracy – and leave these various and hugely differing interest groups to fulfil their own roles. If insurers and educators and Governments have policies that require a fast and early diagnosis before helping families and individuals, does it not benefit more people if they are pressured and required to change how they operate, instead of insisting that writers of a Diagnostic Manual change to reflect those injustices as if they are universal and stuck-in-stone? If a Manual is written by the members of a particular country, but is used world-wide, perhaps the Manual should explicitly state it only applies in the USA (for example) instead of actively trying to incorporate purely national concerns in a way that changes the criteria.

I would prefer that each organisation and interest group did the best within its realm of responsibility, instead of trying to guess and dictate how each other organisation will respond. This may not always be possible, or wise, but it seems to me that the current system is very far from perfect, and what I see and hear going on right now is doctors and Manual writers tweaking and choosing diagnoses in response to external organisations. This just creates a spiral effect of those organisations then changing their practices to (for example) further limit the number of people with that diagnosis who would have qualified for services anyway. It’s a lose-lose that doesn’t openly confront existing injustices and endemic problems that should themselves be forced to change.

The diagnosis question is the diagnosis question; how Governments and other organisations dole out services and funding is is an important, but ideally separate, question.

Diagnosing the problems with diagnosis, is a difficult but important problem, that itself reflects many of the issues and diverse attitudes towards autism and autism services in societies across the world.

***

Links to useful background used towards this post:

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8 Responses to Diagnosing Diagnosis

  1. Mai says:

    About diagnosis, my non-verbal son (2.9 y.o.) will have his ASD assessment soon at the hospital (we’re in NZ). I was just wondering, what if he’s not in the mood to do the test /activities they want him to do? Are they gonna able to accurately tell where he is on the spectrum based on his performance?

    • They’ll be able to tell if he is on the spectrum, but even on the best of cooperative days it is hard to figure out exactly where a child is on the spectrum itself (that can change over time anyway). They will be able to tell if he is on the spectrum because the diagnosis is based on gathering information from the parents too, and because the child’s inability or unwillingness to engage with requested activities can itself be relevant to any diagnosis. Our son was diagnosed soon after 3 years old, at that time he didn’t understand or respond to pretty much any requests, didn’t play with things he was given unless they were vehicles, and spent a lot of time screaming and crying whenever he went somewhere or had to do something unexpected. All those behaviours were a necessary part of the picture. Good luck, I hope you get the answers you need from the diagnosis process.

    • rhpennin says:

      Our diagnostic team had us observe and then asked questions about whether different behaviors were typical or more just “not in the mood.” If they don’t ask you may want to volunteer the info. Though some of the items on ADOS and CARS and so forth are based on whether the child does something spontaneously not on whether they CAN do it. For example our
      son could point if asked to do so, but didn’t spontaneously point.

      The autism diagnostic instruments such as CARS and ADOS are not really intended to “place” a child on the spectrum; they are optimized to get the right yes-or-no answer. For example the items on the test don’t include lots of important skills, just the ones that are most different between autistic and typical children. The scores are also not normed, so tend to decline with age (an ADOS module 2 score would go down over time until eventually you need to jump to module 3 to get an accurate yes-or-no). These tests do spit out a number that they describe as “moderate” or “severe” but be very skeptical; that rating is just looking at the core autistic traits such as social skills, and not the overall child where other traits (personality, anxiety, IQ, motivation to interact, sensory issues) may compensate and greatly change functional severity. Also again the scores aren’t age-normed so if the child is in the earlier part of the age bracket they look “worse” on these things.

      To understand severity and guide treatment there are assessments such as ABAS (adaptive behavior) and VB-MAPP, along with speech/language and motor assessments. Not to mention your own judgment on factors that are interfering with family life and your child’s happiness and well being.

      Our son was in the moderate to severe range on both CARS and ADOS but he isn’t (as even the original diagnostic teams noted). The assessments aren’t a complete picture.

  2. rhpennin says:

    Our son’s treatment was delayed for months while we got the official label, even though the needs were established almost immediately. In our area the actual specifics to work on come from the therapists doing the assessment (and they don’t even look at the diagnosis, they just assess the individual’s language and behavior). But you need a psychologist to look at the kid for an hour and come up with a label. The diagnosis has a huge waiting list but the therapists do not. The diagnosis is then essentially irrelevant to both the educational system and the therapists, it’s purely a barrier with little utility.

    The science and the DSM are intertwined in a very unhelpful way with autism. So many studies would be better if they took dimensional measures of social behavior, IQ, language, sensory responses, and other conditions such as immune disorders; then correlated those with whatever they are studying. Instead they throw out all that richness and use a single yes-or-no “has autism” or “has aspergers.” But autism is what we don’t understand. If the science takes the DSM criteria as a starting point then it can’t help us determine the criteria. It’s a circular mess.

    The science is pointing at two likely things. First “the autisms” or that autism is in fact a number of distinct syndromes or etiologies. Second “broad autism phenotype” or that at least some of “the autisms” are just the tail of normal variation without a bright line.

    We can’t figure out either of those things with studies that correlate existing DSM yes-or-no diagnosis with something else. The studies need to look at individuals and their dimensions. Then we can start to make distinctions within autism and better understand how to help different people in different ways.

    In the meantime I think it’s telling and appropriate that most therapists work based on individual assessment, not label.

    • Thank you for commenting and for sharing those insights rhpennin.

    • Sunshine says:

      Wow, very thought provoking. I don’t see an easy answer when it comes to studying and measuring human behavior and how one could build some sort of meaningful and comprehensive deviance scale from that point.. it seems to me that the current strategy does its best to synthesize the information we do have in terms of diagnosis alone, but wow. Then we study these individuals compared to controls of “typically developing” individuals with very little regard to what actual similarities and differences exist between everyone involved. We are unable to pick out any subtleties of neurological differences if we aren’t even looking at and measuring such subtleties. I never even really saw in my head how circular this logic really is. Thank you, this is really something to think about.

  3. Mai says:

    Thanks A&O and RHPennin

  4. nikki says:

    I think autism indeed takes a particular place in the sense that its diagnosed cases have exploded, definitions have been changed and the awareness and advocacy movement has formed over the same period of time.
    I agree with you that there should be one international, purely scientific manual or reference. Then there could be the more specific national manuals that might already take into account the regional differences regarding to support available, funding etc
    I am from Europe, living in Australia, and can’t help but feel suspicious about the US manual being used here.
    For the diagnosis of my son – the now dropped Asperger’s – I found myself lucky to have a very capable School psychologist carry out tests and observations, combined with lots of input from us and the teacher. The following “confirmation ” by all paediatrician was less thorough though, more like an interview (my son was 6).
    I am in no way competent myself but I chose to continue to explore the definitions myself and – also – be honest and consider possible social factors (ie my parenting..) .
    I am OK with his diagnosis – and also comfortable with the label of high functioning autism now…but from reading and observing others, I must agree, there still seems to be a Lot of confusion around, in parents, institutions, doctors and so on.. add the wilful misuse of the diagnosis in the mix, be it to help a child or to get yourself out of some sort of responsibility … we still have a long way to go to get a clear view on the actual extend and impact of the autism “epidemic “…

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