The Differential Process for Diagnosis

Join Dr. Regan for the first in a series on autism misdiagnosis. This episode focuses on why autism is misdiagnosed and how we can do better.

Dr. Regan's Resources

New Course for Clinicians - Interventions in Autism: Helping Clients Stay Centered, Connect with Others, and Engage in Life

New Course for Clinicians: ASD Differential Diagnoses and Associated Characteristics

Book: Understanding Autism in Adults and Aging Adults, 2nd ed

Audiobook

Book: Understanding Autistic Behaviors

Autism in the Adult website homepage

Website Resources for Clinicians

 

Read the episode transcript below:

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Hello and welcome to autism.

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In the adult podcast.

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I am your host,

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Dr Theresa Regan.

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I'm a neuropsychologist.

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The director of an adult diagnostic autism clinic in central Illinois and the parent of an autistic teen.

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I am going to be starting a new series today and that's going to focus on misdiagnosis...

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So...

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people who are on the autism spectrum, who have that autistic neurology, but are diagnosed with something else...

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typically a mental health diagnosis and oftentimes several diagnoses.

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We're going to talk about why that happens and how to understand how we can do better.

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As we're starting off,

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I am going to tell you a story and the story is called The Parable of the Elephant.

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And this is a very ancient parable.

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It has a few variations across cultures.

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But it really,

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I think. speaks to this dilemma that we have about misdiagnosis.

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There was an ancient village and they had never seen an elephant before.

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And you can imagine that when someone brought an elephant into their village it was a big deal.

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People wanted to know "what does a creature called an elephant look like?"

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And there was also this group of villagers there who were blind and they thought well we aren't going to be able to see the elephant,

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but we could put out our hands and we could perceive the elephant through touch and this will let us know what the elephant is like.

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So indeed the villagers went to the center of town.

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They stood around this creature called an elephant.

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In each person put out their hand and they were able to experience the elephant.

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So what happened is that the first person said,

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oh I get it.

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An elephant is like a fan,

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I've put out my hand and I can feel that it's broad and wavy and thin.

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An elephant is like a fan.

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And here the person had felt the ear of the elephant.

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Well the next person said,

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I do not know what you're talking about because I am right here feeling the elephant and I can tell you that the elephant is broad and tall and wide.

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I can't even put my arms out,

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but I can just say that that an elephant is like a wall,

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it's so big and massive and strong.

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The next person disagreed as well,

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this person said no,

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no,

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no,

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it's... I can put my arms around it,

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it's thick and tall but there is an end to it and and it's kind of like a tree trunk or a pillar.

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And this person was experiencing the leg ... touching the leg of the elephant.

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The next person was at the tail.

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They said no,

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no,

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not like that at all.

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This is thin,

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it's really... an elephant is like a rope,

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it's corded and thin and long.

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No said the next person,

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the elephant is like a snake and they were there at the trunk and they said it's thick and curvy and I can just feel all the textures of the skin,

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it's really like a snake,

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that's what an elephant is like.

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And the last person was feeling the tusk and said,

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no,

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not like a snake at all.

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It's curved a bit,

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but it's really hard and ah strong and smooth, and I would say an elephant is like a sword or a spear.

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So the parable is meant to teach that here,

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every person was correct about what was right in front of them,

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but they were all incorrect because they were only experiencing a piece of what an elephant is and an elephant is not like a snake or a rope or a wall.

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It's really many things put together in that description and an elephant is a whole creature with many of those features.

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So that is the lesson and it applies really well to this process of diagnosis regarding autism.

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So,

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what happens in the area of diagnosis is that a client or patient will present,

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they'll have concerns and some characteristics that maybe they're struggling with.

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And the clinician will see that one little piece and label it with a diagnosis,

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but they won't see the big picture diagnosis,

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which is autism.

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So,

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let me step away from the animal analogy for a moment,

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but we're going to go back and kind of weave this image through to make some other points.

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One point I want to make is that we define diagnoses based on certain criteria.

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So these are pieces of the condition or the diagnosis.

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So,

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depression has a list of criteria.

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Things that we look for.

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Do you have these features? and then we diagnose depression.

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Alzheimer's has a list of criteria,

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bipolar has a list of criteria,

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autism has a list of criteria.

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Now the reason for having criteria is to make certain that we're talking about the same thing and also to help us research this diagnosis.

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We really want to know more about it.

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We want to help people,

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we want to understand what kinds of things are not helpful and we want to know the prognosis.

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So we have to agree on some language for it.

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And some criteria.

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When will we call something

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Alzheimer's? When will we call something bipolar instead of something else?

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In the example of the parable of the elephant,

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each person who encountered the elephant described a small element of one large thing.

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They defined it on the basis of one piece rather than the whole.

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So in this case it was like creating criteria for an elephant ear.

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And then calling the ear the elephant... an elephant is like a fan because I've experienced this piece,

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this ear. or a criteria for the tusk,

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and saying that an elephant is something with the tusk.

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Instead of realizing that a tusk is a little piece of an elephant that does not define the elephant.

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So you get the picture that there is a problem with defining such a large creature based on one feature or one experience with ...

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with the characteristic. So related to diagnoses ... autism like the elephant ... the big picture.

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It's the diagnosis with seven diagnostic criteria and each of the criteria could be diagnosed separately as something else.

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So if the tribe of people were encountering our concept of autism and they had never come across autism before and one individual encountered the social criteria,

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they might diagnose social anxiety.

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Well that's what autism is ...

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social anxiety,

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let's just call this social anxiety.

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Another person could encounter autism and say actually... really autism is a difficulty with flexibility,

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difficulty with change.

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The person wanting to repeat things... for things to be predictable,

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perhaps having rituals for the day.

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So let's call this OCD.

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They're looking at this one piece of the larger autistic picture.

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Another individual may encounter the executive function difficulty that an individual on the spectrum has.

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And they may say,

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well look this is executive function difficulty.

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I know what this is.

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It's ADD.

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Another person may encounter problems that the individual presents with ... emotional regulation, with sleep, and sometimes a really encompassing obsessive interest in an activity.

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And they might say wow it looks like this person is kind of manic and emotionally labile and...  and I think this is actually bipolar disorder.

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That's what this creature is.

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That's what this autistic experiences.

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So it's akin to having the tribe's person encounter the ear of the elephant and labeling this as a fan or the tail and labeling it as a rope.

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In this case a clinician might encounter autism but not be familiar with it and not see the big picture and then label a piece of autism as if that were the whole. The way that we ensure that as clinicians we're seeing the big picture instead of just one piece of something is to make sure we're really doing a thorough differential diagnostic process.

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A differential is a list of diagnoses to consider that could be present based on the few things that we first encounter.

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So let's take the animal example.

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Again,

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if we encounter a huge, gray, lumbering animal with eyes,

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ears,

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four legs and a tail,

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someone may say,

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well that's all the criteria for a rhinoceros.

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So I think this animal is a rhinoceros.

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But the person who understands the importance of differentials will say... other animals also have these features.

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You're right ... a rhinoceros does.

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But you know,

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there are also things to consider such as an elephant or a hippo.

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So based on what we know,

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we can't quite conclude that this is a rhinoceros,

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we have to do a little more detective work.

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The differential then is rhinoceros, elephant, hippo.

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That's the list of considerations in our consideration of diagnosis.

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A person may struggle with executive function.

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Yes, ADD

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Could be diagnosed.

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But after all... there is executive function difficulty in other conditions as well.

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ADD

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Is one.

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However,

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every autistic individual will also have some pattern of executive function difficulty,

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we would also want to know... has this person had any recent injury or illness, because this can also cause executive function difficulty.

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And how old is this person?

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What characteristics do they have?

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Is this someone who's showing some early signs of dementia?

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Also have there been an MRI or any other neurologic features?

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Perhaps this is part of a demyelinating process like multiple sclerosis.

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So that could be the differential ... rather than seeing executive function problems,

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noting that that's what ADD

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Is and calling it ADD

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We can invite more complexity in and realize that we really need to have a detailed analysis to get to that big picture... that just right description of what the big picture is.

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The clinician using the process of differential diagnosis is differentiating autism from other states with similar features.

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Although it's true that a rhino is large,

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has four legs,

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ears,

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reproduces,

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eats and urinates.

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We can't define the creature based on that description without differentiating it from other animals with the same features such as hippos or elephants.

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Now it's not that we would mistake a hippo for an elephant if we really could see the big picture.

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But if we're only presented with little clues at the beginning,

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we know that there are distinct creatures that may have similar elements.

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Not that the creatures are so similar that they can't be distinguished when we see the whole big picture,

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but that if we're only seeing a few elements present at a time,

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we need to know what kind of detective work to do.

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For example,

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how fast does this animal run?

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A Rhino runs faster than an elephant or a hippo at about 34 mph or 55 km/h.

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All three are found on the african continent,

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but hippos gravitate toward environments with aquatic elements nearby.

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Now,

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both rhinos and elephants have horns or tusks.

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However,

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the material in the horn of a rhino is more like our fingernails,

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while the tusk of the elephant is made of material closer to our teeth,

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Of course an elephant has that distinctive trunk not found in the other creatures.

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So this process is the differential process.

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If we're only seeing a few elements.

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At first we do detective work and we say what other creatures or diagnoses have these same features.

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We're aware that certain elements are present that occur in one category,

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whether that's a species or a diagnosis,

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but we realize that this needs to be tested to differentiate it between other categories with those features as well.

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So the differential process for diagnosis should be similar.

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For example,

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if an individual presents with emotional regulation difficulty,

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let's say in this case that looks like mood swings or anger outbursts,

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although in others it could look much quieter like dissociation or fleeing,

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withdrawing.

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But in this case,

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if there's mood swings or anger outbursts,

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a clinician might diagnose bipolar and maybe even show the person that all the criteria for bipolar are present.

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However,

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no one has checked whether there's social reciprocity,

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difficulty or sensory processing characteristics,

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stereotyped movements.

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In other words,

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nobody has done detective work to see if a different big picture is actually present in this case,

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the big picture being autism.

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Another individual may present with difficulty understanding "who am I?

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I just don't have the stable sense of who I am,

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I can't reach my internal state,

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what's going on inside of me?"

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They also have difficulty keeping an even keeled mood.

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They struggle to start and maintain and understand relationships well. A person may present with these features and the clinician will say,

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look,

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all the criteria for borderline personality disorder have been met.

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That may be true.

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However,

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even though all the criteria for one condition may be met,

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the diagnostic manual stresses that you make that diagnosis only if the characteristics are not better explained by a different diagnosis,

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it's not that the features aren't present.

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It's whether the big picture of features is explained best by that diagnosis or by a different one.

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If these features are present,

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but there are also stereotype verbalization,

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ritualistic behaviors,

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difficulty processing social information,

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all of which have been present in childhood,

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then the better big picture diagnosis is autism.

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So the crux of the problem is this autism is rarely, rarely, rarely included in a clinician's differential process.

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This is improving somewhat.

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But most patients I see who have been misdiagnosed carry often multiple diagnoses,

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all of which reflect core autistic characteristics.

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It maybe schizophrenia,

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maybe borderline personality, eating disorder,

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social anxiety,

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OCD

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But really the suspicion should be that all of these together maybe describing the big picture diagnosis of autism.

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But autism has never been considered.

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It's not been ruled out and the better diagnosis assigned.

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No it's just never been considered.

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Someone has seen the characteristics they are familiar with and they have not met this creature called autism.

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So they assign diagnoses to the parts based on what they're familiar with.

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Not realizing that autism can also present similarly.

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But for different reasons.

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And of course that the big picture of autism is different than the pieces that they've labeled schizophrenic, OCD...

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Just as in the case of animals,

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it's not that bipolar and autism are so similar.

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We just can't tell the difference.

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Well no, we can tell that an elephant is not a hippo.

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If we see the whole creature... it's just that if we're presented with pieces on an initial visit and we don't know how to see the big picture and we've never encountered an elephant, or in this case autism... then we look at what we see and what we know and we label that instead.

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And that's how we get into this problematic situation of misdiagnoses... the person hasn't considered or ruled out autism, and therefore we have this collection of piecemeal diagnoses that really don't capture the accurate neurologic picture.

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I'm not going to get into the nitty gritty of when autism and another diagnosis should be made together.

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There are rules and guidelines for that as clinicians,

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but there are situations where you will have more than one diagnosis.

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So let's say autism and bipolar,

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essentially a second diagnosis would be made if there's a constellation of characteristics that are not entirely accounted for by autism.

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So for example,

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in over 500 patients that I've diagnosed,

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I believe I've made an additional diagnosis of bipolar twice because I did not feel the sleep disturbance and emotional regulation difficulty and other features were explained entirely by autism.

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Likewise,

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I believe I also made a diagnosis of OCD

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At least once,

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perhaps twice.

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And borderline essentially the same...  once or twice.

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In addition,

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a second diagnosis may be appropriate if ... even though the characteristics are rooted in autism ...

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if this second thing becomes an area of such concern for the person's well being and health that we really need to go after intervention specifically for this thing.

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For example,

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even though many individuals on the spectrum have differences in their eating profiles that can lead to restricted eating,

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... actually eating disorder should still be diagnosed if this really gets to the point where medical problems and health difficulties are stemming from really extreme nutritional deficits.

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So even though we know it's not separate from autism neurology,

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it still has become an area of significant and distinct concern that needs its own intervention.

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However,

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the intervention should be made in light of the neurologic base.

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Similarly for depression or PTSD.

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Sometimes people have these diagnoses ... and they are misdiagnoses for what is actually autism.

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However,

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certainly if autism has been diagnosed or if it has been assessed and ruled out,

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you can still also have depression or post traumatic stress disorder.

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These are things that in themselves create distress and symptomotology that need to be addressed specifically for the individual's well being. Another challenge that we have because of this history of mixing diagnoses and missing autism is that the research that occurs does not really reflect in a reliable way

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the differences between autism and other diagnoses.

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The reason for that is that a study will take,

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for example,

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people who have been diagnosed with autism and people who have been diagnosed with bipolar and compare them.

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However,

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when you really read how that process has gone,

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nobody has culled through this group of bipolar individuals to make sure that none of them are actually misdiagnosed autistics.

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So,

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you've got really strong potential for an autistic group being compared to a group of mixed diagnosis,

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perhaps bipolar and autism,

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... similarly for other diagnoses.

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Other research studies don't even use diagnosed groups.

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Sometimes they'll use people who self report autistic qualities or who complete a questionnaire reflecting autistic qualities to see if higher autistic qualities compares in some way with people who have a different diagnosis.

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The group with the different diagnosis or even no diagnosis has not been specifically assessed and autism ruled out.

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And secondly,

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you can't really conclude much on the basis of a questionnaire of autistic characteristics if you're wanting to compare the actual diagnostic threshold with another state,

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another diagnosis.

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For example,

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a lot of people with ADD

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Say well I know ADD

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Can include social difficulties.

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ADD

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Can include sensory issues.

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ADD

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Can include hyper focus.

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... That may be true but we actually don't know that it's true because the ADD

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group has not been actually professionally assessed for people missing a correct diagnosis of autism.

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So many of my clients that come for diagnosis have had a diagnosis of ADD

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since very early in their life.

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And not everyone ... but you do get this problematic mixing and so you can't really be sure what the overlap is.

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We do know that people with these other diagnoses have been misdiagnosed to some extent.

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We don't know how much because we don't have a correct diagnosis of autism across adulthood and across the lifespan yet.

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So we're moving in a good direction,

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but these are the complexities.

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If we want to talk about diagnosis and why it gets missed,

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why it gets misunderstood,

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and how come the research can be a little difficult to interpret.

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This is foundational knowledge about misdiagnosis.

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We are going to be doing a series of a few more episodes,

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looking at some of the common misdiagnoses in more detail.

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I'm glad you could join me for this conversation about autism,

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diagnosis,

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elephants and hippos,

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and I hope it was illustrative to just set that foundation for the complexity that we are diving into.

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I hope you join me next time.