Reimagining Mental Health Diagnosis

let me start with a statistic

if you think about all the people that

you know one out of every four has

serious mental illness and among those

that do

given that many of you are young people

it’s important to know

that three out of every four

that develop mental illnesses have their

onset before age 25.

so given that these illnesses begin

early and often last

many years it’s important to get the

diagnosis right

so the main point i am going to make

here is that the way

mental health diagnoses are made has a

problem

and this problem can be addressed by

rethinking or

reimagining our approach to mental

health diagnosis

and making a diagnosis that is valid

actually improves lives maybe even saves

lives

let me illustrate this point by first

thinking about how

doctors generally think in medicine

many years ago i had just come back from

abroad

and i had been experiencing some

symptoms of

chest discomfort and stomach discomfort

nausea no appetite

being a doctor myself i kind of thought

it is just an

indigestion it will go away and they

didn’t do anything for a couple of days

the symptoms got

really worse i ended up in the emergency

room and the doctors when they

see a middle aged man walking in with a

chest discomfort the first thing to

think about is whether i was having a

heart attack

and they took me to the cath lab and did

an ecg an electrocardiogram of the heart

electrical wave recording which turned

out to be

normal so then they put that spotlight

on

my the rest of my body and found that i

was actually growing

bacteria in my blood and my liver

enzymes were up

so i might have some kind of a

gastrointestinal problem they

started me on antibiotics and i got

better and i’m here to

talk to you about this today

now in psychiatry doctors do it a bit

differently

so i’ll illustrate that point by a young

woman that i took care of many years ago

sort of early in my career

let’s call her mary i asked mary

she had come to me after being seen by

many other psychiatrists

she had not accepted treatment and asked

her

why are you here mary what brings you to

my clinic

she said i have been having some

attention problems can’t concentrate in

my school

all through my childhood and in middle

school i began having anxiety and panic

attacks

in high school i started having some

depression in college i began having

some mood swings and over the last

couple of years

i have been having some thinking

difficulties some paranoia confusion

some memory problems so i asked her mary

what did the doctors tell you your

diagnosis says

she said initially they called i have

adhd and then they said i have an

anxiety disorder then they said i have a

major depressive disorder

and more recently that they said i have

a bipolar disorder and

last year they said i might have

schizophrenia

so she then asked the question what do

you think

can you come up with a diagnosis that i

don’t already know

all doctors have basically been

restating my symptoms

in technical terms and calling it a

diagnosis

so can you prove that i have

schizophrenia by a

brain scan or a blood test can you give

me a diagnosis that helps me

understand the nature of my brain

problem

can you tell me give me a diagnosis that

tells me

that i am on the right treatment these

are

sobering questions that many other

patients have asked me throughout

my career mary is not the only one in

fact the whole field of psychiatry is

under criticism because we don’t have a

very good answer for these kind of

questions

why do we make a diagnosis in the first

place what you see here

is the bible of psychiatry which we call

the dsm

or diagnostic statistical manual of

mental disorders

this is a good document everybody uses

it around the world

because the dsm gives us criteria

to make diagnosis of almost every mental

disorder

these criteria give us a kind of a

useful shorthand

so that we can communicate accurately

between doctors about

describing the same individual with

symptoms of the same kind

in the same diagnostic terms which is

important

both for communication between doctors

as well as for communication with

insurance companies and legal people and

so forth

but what the diagnostic terms in dsm

does not tell us is what the underlying

illness is

so while it has it is reliable and

consistent

these categories may not be valid they

may not be telling as much about the

underneath underlying disease

so let me explain to you the two

two terms reliability and validity in

this cartoon

on the left what you see is this man

shooting an arrow consistently to the

same point on the target board

but missing the bull’s eye so it’s

highly reliable

but not valid but on the other hand on

the right side what you see

are all the arrows are hitting the same

spot

reliable and also they are hitting the

bulls high so they’re valid

so the important point is that in

psychiatry we need diagnoses that are

both reliable

and valid

how do we move towards more

validity in psychiatric diagnosis

after all all mental disorders one way

or the other

have a relationship to something or the

other in

going wrong in the brain all major

mental disorders

the organ of the speciality of

psychiatry is the brain

just like it is the heart for the

ecology cardiologists

and the kidney for the nephrologists but

psychiatrists are somehow

shy to look at the organ of their system

namely the brain when they make their

diagnosis

when you have a trouble with your car

and you take it to a mechanic the

mechanic looks under the hood

and looks at whether the engine is the

problem or it is the cooling system and

so on this

psychiatrist could do the same thing in

the last several years

there have been exciting new discoveries

of different kinds of brain scans

which i have shown here in this slide

the cartoon that

i drew myself and the bottom right is

the

mri scan which gives you exquisite

pictures of the structure

function and maybe chemistry of the

brain

and in the middle what you see is the

electroencephalogram

which is the way just like the ecg of

the head

using electrodes in a completely safe

manner

you can get electrical recordings of the

brain’s activity

and thereby look at the functioning of

the brain

now how can we apply these kind of tests

or

biomarkers as we call them in

psychiatric disorders let’s go back to

the same kind of symptoms that i

presented with

if someone like me walked into the

emergency room

with a stomach upset and nausea and

appetite

and they simply said you have an

indigestion take these pills and go home

i would probably be dead by now but

rather than that

the doctors did an ecg ruled out heart

disease

and then looked elsewhere in my body

and examined my blood and the

gastrointestinal system and came up with

a diagnosis of a

gastrointestinal infection that was

causing

a bacteremia an increase in bacteria in

the blood

that’s the way medicine should proceed

but

let’s see how we might apply this to

psychiatry

so beginning many years ago a number of

researchers including our own group in

boston have been looking at

a large number of people with severe

mental illness psychotic disorders

and asking the question whether the

different dsm categories like

schizophrenia and schizoaffective

disorders

might differ in their biomarkers so we

examined this population on whom we had

electrophysiological data like eeg

and cognitive test data and we first

asked the question

whether the three diagnostic groupings

namely schizophrenia schizophrenia

and bipolar disorders showed any

differences in terms of their biology

but the answer was a resounding no

all of these disorders looked pretty

much similar in terms of their brain

abnormalities so we scratched our heads

and took a different approach

why not just ignore the symptoms and

apply machine learning

to these biomarker data across

nearly 2 000 people and whether we can

come up with

different kinds of categories that may

make more sense

and indeed we came up with three

biological categories based on sets of

biomarkers which we call them biotypes

which had no resemblance to the dsm

categories that we

had been all along using

why is that important you might remember

i said

our patient mary had asked the question

can you

take a brain picture and tell me that i

have

a particular disease with a particular

brain abnormality

and you can you prove that i have

schizophrenia using

brain scans and when you look at

our own scans in these data sets whether

it is schizophrenia or bipolar disorder

or schizoaffective disorder they don’t

seem to look different

and a particular brain structure called

the hippocampus

a tiny structure which we can now

examine in exquisite detail by modern

neuroimaging techniques

the hippocampus which is important for

memory thinking and belief formation

did not differ between the symptom

categories of schizophrenia

schizophrenia or bipolar disorders

but if you look at them the same

structure

across the three biotypes the

differences were like day and night

biotype 1 is characterized by a

prominent hippocampal abnormality which

might explain

her illness better than anybody else’s

illness so there might be different

subtypes which are different

biologically now our patient might ask

the question how does it make a

difference

for my treatment now when we do

categorize

illnesses based on their biology

we also understand what the

physiological

signatures or fiddle the physiological

alterations that lie underneath these

we have discovered that biotype 1 is

characterized

by a diminished response of

nerve cells or neurons to sensory

stimulation

you can call it an underactive brain

by contrast biotype 2

is characterized by an inefficient

overactivity of

these neurons in response to sensory

stimuli

biotype 3 we did not find much

differences from healthy people

so it’s quite possible that the biotype

1 patients

might respond to treatments that enhance

brain activity like brain exercises

cognitive training

also some medicines like clozapine which

may increase increased brain

electrophysiological activity

in contrast biotype 2 which is

characterized by

over reactive inefficient brain

what you need are treatments that calm

these nerves

it may be certain medicines like

welprovate

or it may be certain newer treatments

what we call

neuromodulation an example of that is

transcranial magnetic stimulation which

can suppress

inefficient overactivity biotype 3

which does not seem to show much brain

changes

but still they have symptoms it’s quite

possible

that they may respond to smaller doses

of medications

maybe they need psychotherapy much more

and a good follow-up

i’m going to end with this point that

making a valid

diagnosis has value a valid diagnosis

has value first of all it will tell you

more about the underlying illness

and second of all knowing what the

underlying illness

is would help the doctors to discover

better treatments

and also to match the existing

treatments

in the correct way to the correct

patient in other words

personalize the treatments to the

individual patients

situation and finally

mental health disorders are highly

stigmatized it’s a major barrier in

their recovery stigma is because

quite often they either blame themselves

or the society

for these illnesses but if only we knew

and if our patients

know that there are certain brain

circuitry alterations

that can explain their illness it is

likely

very likely to reduce stigma and improve

their

engagement in treatment thank you