Neurodiversity 101 – What’s in a diagnosis?

Professor Amanda Kirby, CEO of Do-IT Solutions., Campaigner for Neurodiversity, Medic, Knowledge Translator, researcher

Originally published as part of The Neurodiversity 101 LinkedIn Newsletter.

Diagnosis of whole people

As a doctor, I was taught as a medical student that 90% of the diagnosis was based on a good history. Writing this article reminded me about the Balint Method which was named after Michael Balint, a psychoanalyst originally from Hungary. He and his wife Enid Balint started a series of seminars in London in the 1950s with the aim of helping GPs (family physicians) to reach a better understanding of what they called ‘the psychological aspect’ of general practice.

The method consisted of a case presentation followed by a general discussion with an emphasis on the emotional content of the doctor-patient relationships. This approach was very much about ensuring a greater understanding of ‘the patient’ in the context of their lives and not thinking of a person as a bunch of symptoms and signs!

“The uncreative mind can spot wrong answers, but it takes a very creative mind to spot wrong questions.” – Antony Jay

How do we come to the right decisions?

An accurate and timely diagnosis is of paramount importance for most people. Waiting for years is frustrating as it may be the only means of getting support. However, if you get the wrong diagnosis it may not result in the ‘golden ticket’ you may have thought would happen. For children in England this is often seen as gaining an EHCP ( Educational Health Care Plan) as it ensures specific provision.

Missing out

How often do you think that a person is given a diagnosis of say dyslexia when they actually have dyscalculia, or when they have a diagnosis of ADHD and then later find out they have autism as well?

When do some children get a diagnosis of Developmental Language Disorder (DLD) but Developmental Coordination Disorder(DCD /also known as Dyspraxia) hasn’t been considered at all despite them co-occurring often?

Services remain often set up in silos such as for ‘Autism only’ or screening for dyslexia in isolation despite the fact that autism and dyslexia overlap with other neurodivergent conditions very often.

Getting the wrong diagnosis or missing parts of a diagnosis can be annoying at the minimum, result in intervention that is not person centred and even worse can have damaging longer term consequences potentially.

As a parent of neurodivergent children I remember too well the challenge of going from place to place and telling their story again and again to different professionals who were seeing both challenges and strengths through their own professional lens and training.

They were using their sets of tools but this resulted in considering parts of a person but not always consider the overall picture.

The symptoms and signs that are attributed to neurodivergent conditions such as ADHD, Autism, DCD, DLD, Dyslexia, and Tic disorders sometimes can look like other conditions as well. This is why females who internalise how they are feeling who have ADHD get missed out as this has not been considered. A child with language difficulties who doesn’t understand what is being taught to them will become frustrated. What is seen is externalising behaviours but we don’t always think what could it be.. IF we see this … THEN what else could it be ….

If we don’t ask the right questions or enough questions, we can inadvertently make a mistake.

If we don’t consider, for example, that a lack of focus could be related to anxiety, depression, or traumatic brain injury we could end up giving the person the wrong diagnosis.

This is what we mean when we are considering the differential diagnosis.

Expert diagnosticians usually have between three and five diagnoses in mind within seconds to minutes of starting a diagnostic encounter. They then test them out by asking a series of questions or undertaking tests/assessments to confirm or refute this hypothesis. This approach comes from a balance of expertise, knowledge and experience.

As a doctor I have seen thousands of children and adults who are neurodivergent over the years. There is a process I go through to consider categorically whether someone is more likely to have ADHD or another condition such as DCD (dyspraxia) when a parent gives a history of their child.  I will ask a series of questions about development, birth history and family history for example. I will often have to also gather information from multiple sources to help me to make my final decision. This may include gaining information from school and asking the child themselves. I along with colleagues developed the DIDA which is a diagnostic inventory for diagnosing DCD/Dyspraxia to aid this process when assessing adults. It is a step by step guide to ensure we don’t miss out information or not consider specific aspects that could be detrimental for that person. An adult coming for an assessment for DCD could have other reasons for coordination challenges such as developing a brain tumour or having had a stroke. A good assessor has the skills to consider these aspects.

Conditions associated with neurodivergent traits are described by symptom constellations which we call phenotypes. The diagnostician is looking at whether the child or adult meets the criteria for that specific phenotype. This may relate to categorisation systems such as those from World Health Organisation (ICD-11) and the American Psychiatric Association (DSM-5). These may be seen as the ‘bibles’ however you need to be aware that that these definitions change over time.The 2013 version for Autism (APA one) for example, made changes to the definition from the previous one. The APA and WHO are also slightly different.

No replacement for experience

‘No man ever steps in the same river twice, for it’s not the same river and he’s not the same man.’

-Heraclitus

There is evidence from cognitive psychological studies that professionals need extensive experience to acquire adequate exposure to those various phenotypes to make the right clinical decision. To be a G.P took me more than 10 years of training. I have worked in the field of neurodiversity for more than 30 years. Despite this I am sure I make wrong decisions at times despite a lot of experience.

If you’ve only been trained to screen for dyslexia, you could clearly miss a child or adult has ADHD or dyspraxia. There is good evidence for this in terms of children in the classroom being missed with ADHD for example because of a lack of training and knowledge to identify it. This is especially true where there may also be a gender bias as and the teachers may be considering what ADHD looks like through a ‘male lens’. This ends up missing the quiet dreamy girls all together and them ending up with a different/wrong diagnosis.

Creating processes that can consider the alternatives is how I started developing Do-IT Profiler as we needed a system that could consider the broader picture and take a biopsychosocial approach, and listening to the voice of the person embedded within this process.

Abductive reasoning

Abductive reasoning typically begins with an incomplete set of observations and proceeds to the likeliest possible explanation for the set. When a diagnostic possibility doesn’t immediately come to mind well there is some confusion or debate which is right then most professionals start to question what could be the right hypothesis. Abductive reasoning is a way to work backwards and generate the hypothesis that might explain the observations.

Some people use what is called heuristics which are rapid mental shortcuts to make quick decisions if they are required. This is used especially if there is a high level of uncertainty and this can be a trade-off of deciding it is X or when it could be Y or Z. w

We can quickly go to a specific diagnosis but then shift or adjust this as additional information is gathered. In the field of neurodiversity, we see that some people gain a diagnosis of ADHD and then later getting a diagnosis of autism for a sample. Some females have had what could be considered to be a partial diagnosis having been diagnosed with anxiety or an eating disorder and that ADHD or autism hadn’t been considered in the diagnostic mix.

Be aware of satisfactions search

In some cases there’s something called satisfaction search where we feel comfortable once we reach the conclusion of one diagnosis and we stop considering any others. This is problematic in the case of neurodiversity when there is such high levels of overlap across conditions and often means we are screening and diagnosing in silos. If you have had limited training you may be convinced something is X and not want to move from this diagnosis as it makes sense to you. We sometimes see this for people given a diagnosis of Autism for example.

There is always a problem when people are overconfident in their abilities to diagnose. I see this in the field of Developmental Coordination Disorder where some assessors are diagnosing this condition despite not having the tools or skills to consider the differential diagnosis.

You can’t die from dyslexia but you could miss, without the appropriate skills in place, a brain tumour or a degenerative motor condition if you don’t know to look for or consider this when thinking about DCD/Dyspraxia. This is where adequate training and working across teams are so important.

False positives and false negatives

Not diagnosing when the condition is present (false-negative result) means a person may miss receiving intervention and timely support and education. An incorrect diagnosis or a false-positive result may cause stress, and could lead to unnecessary investigations and treatments, and place greater strain on already limited service resources.

A particular concern is implicit bias regarding race, gender ,sexuality, and ability and other factors including where testing is taking place and when it is being done as well.

The is about stereotyping. It can limit our capacity to consider… IF we see this… THEN what could this mean.. because we make assumptions.

I recently wrote about children being excluded from school and the and the discussion by some educators about putting in place behavioural management processes. The challenge we have there that instead of considering the differential diagnosis i.e IF we see externalising behaviours THEN consider what could be happening in that child’s life we make assumptions that ‘the problem’ resides within the child. So if managed it – it would be the answer.

We may not consider that excluded children are at a higher risk of:

• homelessness ( and may be worried where they will sleep that evening)
• being on free school meals ( and may be hungry)
• having Developmental Language Disorder,( and not understanding what is being said to them fully)
• and of having ADHD ( and may make it harder for them not to be impulsive or harder for them to remain focused)

All factors need to be considered in a differential diagnosis.

When we start to do the IF/THEN approach we change our thinking.

There is no doubt that a combination of training with experience is clearly the best teacher of diagnostic reasoning. Having a meaningful ( not overly long) checklist and frameworks can really help as well to some degree too.

We need to be critical about the accuracy and reliability of the current diagnostic processes in the field of neurodiversity. We need to be honest enough to admit when we have not considered alternative diagnoses. We need to work together. Knowledge changes over time.

The ACAMH conference this year in March interestingly is titled “Changing perspectives in neurodevelopmental disorders”

It will discuss the “ intense debate on neurodevelopmental disorders; Should they be split or lumped? Are they disorders or neurodiversity? Are they different in males and females? to name but a few. “

This sounds like a valuable discussion for all of us to consider.

Listen also to the different voices of neurodivergent people who are talking about diagnosis and what it means to them.

As Einstein said: “Life is like riding a bicycle. To keep your balance you must keep moving.”