Autism

MICHAEL G. CHEZ: It's a pleasure to be here today,
and I would like to just give an overview of a lot of aspects
of autism from a medical neurology perspective
and some general guidelines.
And hopefully, we can cover the topic in the time period
we have in a fairly broad and thorough way.
But we'll take questions at the end, from what I'm told.
So anyway, I'm going to start the slide show.
Let me see here.
Autism was first described officially
with the word autism in the 1940s
by a doctor named Kanner at Johns Hopkins University.
There was a doctor in Europe who's
been a little bit less well-described lately,
but Asperger was also describing similar behaviors in Austria
in the 1930s to '40s.
And clinical definitions have been based on observations
of how patients act.
And it basically noted core problems in development
in communication skills, socialization abilities,
and what we call stereotypic or stereotypic behaviors, also
called self-stemming behaviors, where children may do things
like do funny things with their hands in front
of their eyes or hand flap, toe walk, spin,
rock, or do other types of behaviors
which are sensory and motor-involving behaviors.
Communication is of course speech delay,
not being normal in their speech acquisition.
So as infants, they're not saying
words you expect them to say by 12 months of age.
A good thing to screen for autism, for instance,
is if your child turns and looks at you when
you call their name, between 10 months and 14 months of age
is when that normally should happen.
And if they don't consistently look at you
when you call their name, that's a concern for hearing,
as well as possibly autism.
And if they don't have words like "mama" and "dada"
by 12 months of age, 15 months of age,
those are concerns, as well.
So those are things to look for in terms of early communication
gaps.

So anyway, what is autism spectrum disorder
and how do we define it?
It's kind of a broad, heterogenous, or multiple
caused group of conditions that go under the umbrella of autism
spectrum disorder, or autism.
And basically, diagnosis is usually at two years of age
or above, officially.
You can know in infancy to early--
one to two years of age that some children are at risk.
There is not a single cause.
There's environmental causes.
There's genetic causes.
There's traumatic causes.
There's infectious causes and injuries
that people occur at birth or after birth.
And then you can have it from other medical conditions,
where other diseases may affect the brain and cause autism.
And then there is a majority of them,
which is we don't really know what causes them.
There isn't an obvious cause.
As of 2021, according to the CDC surveys
that are done at 8 years of age across the country
and how many kids have autism, they're saying it's up to 1
in 44 children.
Boys outnumber girls about between 4 and 6 to 1.
And in comparison, cerebral palsy since the 1940s
there's been about 1 in 3,000 births,
and it's still at 1 in 3,000 births.
In the 1980s, autism was felt to be 1 in 10,000.
By 1990, it was at 1 in 1,000.
And now it's at 1 in 44.
So there's definitely something evolving here.
And I don't know if anybody has the perfect answer for that,
but there's probably multiple reasons.

There is something called the Diagnostic and Statistical
Manual, also known as the DSM.
This is the Fifth Edition, which restricted the autism diagnosis
a little bit more than in the past,
but they did away with other categories, something
that used to be called Asperger's or high functioning
autism, specifically, in that category, and also pervasive
developmental delay.
They are now grouped into the autism spectrum conditions.
And it's repetitive, restricted behavior patterns,
stereotypic behaviors, narrow interests,
and the stereotypic motor speech or object
use where they do repetitive things
and either hypersensitive or less sensitive, hyposensitive
to their environment.
They present at an early period, usually under two years of age.
There is impairment in social, educational, and occupational
activity.
And these can not be explained by intellectual disability
or a neurological injury, like cerebral palsy, seizures,
or stroke-like injury, or infection of the brain.
And so it's something that's basically not
got a secondary cause, specifically,
at an acute way that could be reversible.
And also add with or without, is there intellectual or language
impairment with it?
So this is something separate from just being intellectually
disabled or language impaired.
This is a combination of all these behaviors.
And it requires a lot of substantial support,
in the worst cases, to substantial report
in moderate cases, to just some support in mild cases.
So they've changed it from high functioning, low functioning,
average, to substantial support, just support.
And that's the range they now kind of use
this categorization.
I'm not sure it's better, but that's
what the most recent changes were.
So by definition, it's the defects
in communications, socialization,
and stereotypical behaviors.
We can screen for that between 12 and 18 months of age
with something called the mCHAT questionnaire, which
is 10 questions, which you answer Yes or No to.
And defined on those answers, there's
a higher or lower risk of autism.
One of those questions, does your child turn and look at you
when you call their name, that's about 80% predictive,
and that's one of the questions.
It's a lifetime diagnosis.
They've done work with the ADOS, which
is the gold standard sort of test
that people do if they're psychologists,
to sit and try and play with the child
and mark how the child responds.
That test, developed by Catherine Lord
at University of Chicago and then University in Michigan,
now she's at, I think, Columbia, that has
been shown to be a lifetime diagnosis if they
have a positive ADOS at age 2 or above.
So autism is lifetime.
It can be acquired.
There are 2/3 of patients who seem to regress
in under two years of age.
So that means they had some skills and lost them.
Now, with careful history, there are always some deficits
in many of these patients.
Rarely has someone become autistic acutely for no reason.
But there can be kids who get brain injury, trauma,
environmental deprivation, which can lead to autistic behavior.
So you can acquire autism in a number of different ways.
Intellectually, they can range from very low,
with IQs less than 40 or 50 to the superior IQ range.
Most people are borderline to low normal IQ,
with the majority of patients having an IQ 60 to 80.
But verbally, they may be delayed with that
or they may be some higher or some lower, like I said.
But roughly 40% to 50% are in that middle range
of borderline to low normal IQ.

So what causes autism?
I said there's been 1 in 44 children.
Science supports that 80% of it might
be in a genetic type of determination,
although there's not one single gene that causes it.
Diseases like cystic fibrosis, for instance, or Fragile X,
there is a gene that specifically causes it.
However, muscular dystrophy, there's
a gene that specifically causes Duchenne's muscular dystrophy.
But this is a disease that doesn't have one gene.
In fact, there's been over 2,300 major genes identified,
65 which are most common.
And we know from identical twin studies
that were early genetic studies and more recent ones
that 60% are likely to have autism, even if they've
been adopted or separated at birth for some rare cases that
have happened.
Girls are less likely than boys.
However, when girls do have it, they
are more likely to have abnormal EGs or epileptic activity
with their autism diagnosis.
There are multiple genes, and currently we're
recommending doing something called an exome, which
looks at around 25,000 genes, or a genome which
looks at hundreds of thousands of genes, which gives us
about a 50% or more chance of picking up
a genetic defect, again, depending
on the accuracy of the company that's doing it.
Some companies do a visual review
or a machine only review.
Those that do both usually have better yields.
So there's different genetic companies out there,
as well, that do similar things, almost the same equipment,
but they have different standards of seeming
to have better yields.
So part of that, your doctor helps you sort through.
Usually, there is a new deletion or duplication
are the most common new gene findings
that neither parent have.
There is something called de novo, which
is meaning new gene change.
It's not from either parent.
Copy number variants are you might
have more than a certain number of genes in a certain part
of the gene that's abnormal.
So these are all things that we look for.
And even knowing this doesn't necessarily
change our treatments because these aren't necessarily
reversible with the current technology, but at least
it helps us understand what may have caused it, especially
in families where autism may run.
And it's helping us understand some
of the defects in the brain and what kind of changes
go on to cause problems with the brain
as it develops autistic symptoms.
So this is just a slide that I wanted to show you,
that these are just like 65 of the most common genes.
And you can see there is a lot of different names, which
are sort of addresses on different genes.
But what the common theme in the second sentence
is basically that these all have something to do with the way
that DNA gets uncoiled and translated, neural transmission
of certain biochemicals, the stability of receptors that
transmit information between the nerve cells,
something called neuroconnectivity,
where the brain connects the different parts of the brain
so that they can communicate to each other,
and also inflammation genes that can
cause changes and pruning to the brain and the connectivity.
So these are the most common problems
that the genes tend to point to, but there is not
one specific gene alone that causes autism.
And we know that some of these genes
are also seen in epileptic conditions called
Lennox-Gasteaut syndrome, or epileptic encephalopaties
of childhood.
Certain language delay genes.
And so they may overlap other conditions,
and not just autism.
And there are also diseases that overlap
autism, things like tuberous sclerosis, which may or may not
have cognitive impairment, may or may not have autism.
Fragile X, like I said, is 1 in 3,000,
but it's a different disease that has autism tendencies.
Rhett's syndrome in girls.
It's again a genetic disorder that affects girls only,
although there may be rare male ones.
Most people feel the male ones don't live to survive.
But the bottom line is these are separate and identifiable
specific genetic diseases that also have autistic features.
In tuberous sclerosis in a something called 7q35 deletion,
the children may develop epilepsy.
And if they develop a type of epilepsy
called infantile spasms and tuberous sclerosis
but you treat it or catch it early,
those children don't get autism.
If you don't catch it early or treat it successfully,
they do get autism.
So the types of seizures that overlap
some of these genetic conditions cause autism
if the seizures aren't stopped, which again, infantile spasms,
which is caused by many things, is sometimes
associated with autism, just like certain brain infections
or brain injuries.
The 7q35 is a disease where there is abnormal nerve brain
malformations, called heterotopias.
These are found in Amish families and other families.
They develop epilepsy between 1 and 2 years of age.
If they treat it with a certain epilepsy
drug called valproic acid, it reverses the autism risk.
If you do not treat it between age 1 and 2 on time,
they can develop autism.
The importance of these type of conditions
is there are some times where autism
can be avoided or prevented if you have these diseases.
It's not inevitable that you get autism with these genes.
And in other conditions, it doesn't seem to matter
or it may not have a reversible phase.
So these are things that give us research ideas
that we can look into and see what else we can do.
Sometimes people blame hypoxia or stroke
or intraventricular hemorrhage or bleeding in the brain.
Prematurity, very premature babies at 23,
24, 25 weeks of maturity who are born very early,
after say just six months instead
of nine months of gestation, are at a much higher risk
of autisms than, say, children born
after 30 weeks or 40 weeks.
Loss of oxygen is a risk factor.
Strokes are a risk factor if they're
in the frontal part of the brain,
as is bleeding in the frontal part of the brain that
may cause damage to parts of the brain that can make
you act autistically, with the nerve connections being
damaged.
Repeated concussions have rarely caused autism or autism
features in some older children who were normal,
but they had repeated head injuries
and ended up having autistic features afterwards.
Certain infections, such as herpes encephalitis,
which affects the frontal or temporal lobes
of the brain, other forms of meningitis
or infection of the brain that can cause damage
to these areas.
Measles, which people forget about,
can cause damage to the brain, which
can cause autistic features, cytomegalovirus, and others.
So infections can sometimes cause damage to the brain.
There is brain malformations which
can occur, which can cause autistic overlapping features,
especially when the frontal lobe or executive
part of the brain that monitors how we look at other people
and socialize gets affected.
You can have autistic features.
And then really severe epilepsies,
like infantile spasms, Dravet syndrome, Lennox-Gasteaut,
if it's not treated successfully,
which some of these are very difficult to treat, 80% to 90%
of these folks will have autistic overlap.
So severe epilepsy in childhood early on often
lead to autism as a secondary diagnosis.

So in utero factors, sometimes there's
mothers who have antibodies who've
already had an autistic child or they have autoimmune disease.
There is a higher rate of autoimmune disease in mothers,
like Hashimoto's and things like that, that are associated
with more risk for autism.
There is also things like experiments
that I've done at UC Davis Mind Institute and other places
where they've taken blood from mothers who've
had autistic children on multiple births
and they've given that to like Rhesus monkeys who then have
the blood that they're given, these antibodies
tend to cause the monkeys developing
in the pregnant monkeys to become autistic-like behaviors
when they're born.
So there may be immune factors that happen in utero.
That's still a work in progress, but it definitely
suggests there is some environmental or immune factor
that may alter developing brains and cause autism.
We know that certain toxins or medications, pesticides,
acute mercury poisoning, which is
from spills of mercury like where a smelting factory
or something like that happens, or fish
that are severely poisoned with mercury in that area
and are eaten a lot by populations in that area.
It's not from shots that contain thimerosal, which are not
the type of mercury that our body absorbs or uses,
though there is no thimerosal in most shots today,
and so immunizations are not the cause.
But mercury poisoning from environmental mercury disasters
can occur, or too much seafood, which
is why they say not to eat as much seafood
anymore because of the mercury in the oceans.
Neglect.
People have been put in institutions
like in Romania, Russia, and people adopt these babies.
And the babies from these less developed countries where
the babies are put in like a factory orphanage
don't get a lot of cuddling or touches,
babies can sometimes develop autism
from lack of socialization early in infancy.
So there's environmental factors like that.
Also, children who have been neglected in abusive families,
sometimes they're taken out by protective services.
Those children may have autistic features
because of lack of early stimulation and neglect
as an infant.

So how does the brain organize?
There's lots of things and controversy about what exactly
goes wrong.
MRIs, if I take a typical MRI in most kids
with autism who've not had a brain injury or malformation,
the brains are usually normal appearing relative
to a mother toddler.
But when they use special programs that really dissect
out millimeter by millimeter differences
in the white matter or gray matter,
there can be differences and more white matter
in kids with autism.
There may be differences between the way the brain connects
between, say, the frontal lobe and temporal lobe
versus the frontal lobe, within the frontal lobe.
So intrabrain region connections may
differ with autism versus non-autism in some studies.
There also may be increased astrocytes or glial cells
or immune cells found on microscopic review of brains.
Certain immune markers may be up.
That's some of the research I've done and others have done.
And then genetics can affect how the brain's connected.
Like I said, many of the genes we're finding
are playing a role in how the brain evolves and makes
connections.
This is an example of some pictures showing
parts of the brain, where the white matter may not
be the same in autism as the other.
And this one black and white picture,
Figure 2 on the right side of the slide,
tends to show differences of where the white matter is not
normal.
So the dark gray connections are abnormal versus the more normal
white connections.
And so they show how the connections may not
be the same.
This is just to show you that there
is very sophisticated ways we're looking at this.
And again, more and more sophisticated
studies genetically are being done.
This is an example of how the genes that
are making markers and proteins have
been studied in autism, schizophrenia,
and bipolar, for example.
And what these schematics really show
is that there is closer relationships between the way
the brain makes certain chemicals that
help transmit neural information,
make connections in the brain.
They're more similar between autism and schizophrenia
and bipolar than they're different, even though they're
different conditions.
In other words, the brain connections
in the frontal executive areas of the brain
are abnormal in these conditions and they
have some similarities.
Cerebral palsy, for instance, or ADHD
is different than these type of patterns.
So I thought this was a very interesting thing
to know, as well.
And then there's theories about multiple hits in epigenetics.
Epigenetics is a fancy name.
I'm going to say it's more than just genetics,
it's factors that could influence
how the genetics are expressed.
Like I said, you can get an infection
which causes inflammation, which may change
certain genetic expression.
You can have environmental differences,
lack of stimulation.
But then there is also just a stressful fetal maternal
environment and other things that if you-- you
need more than one thing.
The gene only is a problem if you develop seizures.
And if you don't develop seizures, it's not a problem.
So there's more than one thing going
on that can cause a problem.
We know that there's differences in blood-brain barrier
and lymph nodes in the brain, things they didn't know existed
a few years ago, which we all thought must have existed
but we weren't quite sure how it worked.
We're starting to discover how the brain and the immune system
interacts with the immune system in your body,
how the brain is somewhat protected
from the typical immune, and the immune cells in the brain
do pruning and neural connections
as well as fighting off infection.
So there's a lot of things we're learning about that,
that could influence autism.
And that's part of what the research going on
is looking at in some areas, both genetically
as well as with the immunological research.
And some people have looked at can we
alter the treatment with this, including some of my research.
And we can talk about that a little bit.
But the immune system has got different roles in the brain.
And so at different parts of the brain, if you get an infection,
if you get stress, your immune system
may alter how the brain connects and that
could cause some higher risk for autism, we think.

So let's talk about what if you're born
and you have autism, what other things can happen or be
associated with that condition?
Well, we know neurologically that epilepsy
is common in autism compared to normal non-autistic infants.
Epilepsy is more likely to occur through the lifespan.
People with lower verbal ability, lower IQ
tend to have more epilepsy than people with higher functioning
autism.
The range of having a physical seizure ranges from 10% to 30%.
In higher functioning, that's more like 2% to 10%.
In abnormal EEGs, which could make you prone to epilepsy,
you can have 40% to 50% of children under age five
could have an abnormal EEG compared to normal controls.
And of course, through teenage years, some of those people
may develop actual physical seizures.
Sometimes they develop physical seizures earlier in life.
We know that if you develop seizures in infancy,
you're at higher risk for autism.
If you have seizures or loss of oxygen at birth,
you're at higher risk for autism.
And so there's a lot of factors where epilepsy and autism sort
of overlap.
So it's very important to look for whether children
are at risk for epilepsy if they get diagnosed with autism,
and also to make sure they don't have the risk for it
with testing of EEG and things like that.
There can be sleep disorders.
Children with autism have trouble regulating
their emotions, their sleep, their alertness,
their attention.
And so it makes sense that the parts of the brain that
connect to the frontal executive part of the brain,
called the cortical reticular activating
system, the brainstem talking to the higher brain,
that can lead to sleep disorders and problems with sleep
disruption.
There is anxiety and obsessiveness and frontal lobe
perseveration and things where these kids may not
regulate their sleep, their emotions, their anxiety.
There could be GI problems.
Children with autism may have problems
with their autonomic nervous system,
like a lot of kids with cerebral palsy
and other developmental delays may have.
So your bowel motility may be different.
Your reflex tendency may be different.
Maybe it's from anxiety.
Maybe it's from muscle tone being lower.
There is ADHD and learning problems.
Children with autism have a lot shorter attention spans.
They might have trouble with verbal learning, especially
auditory processing.
That is almost universal a problem in autism.
There is also problems with motor planning--
how do you tie a shoe, how do you write with a pencil?
Many children never do learn to write well or button
things well, and you make adaptions like instead
of shoelaces, you have Velcro.
Instead of buttons, you have snaps or other things.
But the other thing is keyboarding instead of--
or symbolic language devices instead
of trying to learn to write.
So speech delay is one of the most common and biggest
problems with autism.
It's one of the core problems, as I said.
As far as medical problems go, sleep, GI problems,
constipation, reflux, diarrhea, discomforting things
often tied into the autonomic nervous system, as well.
And then epilepsy, those are the three biggest comorbidities
that we deal with.
So like I said, 10% of higher functioning autism
may develop epilepsy.
30% to 50% of the lower functioning people with autism,
meaning their IQs are lower, their language
is lower and more likely to have other brain issues
and connection problems.
Abnormal EEG clinically occurs without seizures in 40% to 50%
of the younger children if you look at an overnight EEG.
That's part of my research.
Other people have duplicated it.
There have been multiple studies.
If you have clinical seizures, there's
about a 70% chance you will have an abnormal EEG
at some point with your autism.
And then convulsive seizures, grand mal seizures,
they tend to happen more in adolescents and adults
than in younger children.
And in children who don't have a structural brain damage,
focal seizures can happen if you have
structural or malformed brains that cause autism
as a secondary diagnosis.
So EEG and medical work up, knowing
what's wrong with the brain structurally,
will help us with managing some of those comorbidities.
If you control seizures, you have better language,
better cognitive, better development,
so earlier diagnosis is good.
And the other thing is children who
have conditions with autism that have
abnormal EEGs tend to have worse behavior,
worse language, worse problems than children whose seizures
are controlled or managed.

So what do you do when you're a neurologist
and see a child with autism?
You do a history and physical exam.
Some of the older testing guidelines
are just basically doing lead levels and that kind
of stuff, thyroid functions.
That-- it's all good, but it's not
going to tell you what the bulk of autism is caused by.
A 24 hour EEG versus a one hour EEG
is much more effective, because you
need at least six hours of sleep to pick up
sometimes the epilepsy that only occurs in sleep.
When they're awake, it may be completely normal.
This could also cause some of the sleep disruption issues
in some children.
Genetic testing is an absolute must in developmentally
delayed or autistic children.
We recommend at least an exome and a genome
with a trio referring to both parents being tested
at the same time, so that we can see
if these are de novo new genes or if they're
something the parents have which may not be as severe.
And you might want to do a microarray, which
is an older tool, look at bigger gene defects.
And also Fragile X or Rhett's, Fragile X in boys,
Rhett's in girls, because that's not always covered completely
with some of the more detailed tests,
although the newer tests are picking up those, as well.
If they have GI problems, constipation, stomach pain,
reflux, diarrhea, you want to see
a pediatric gastroenterologist to make sure.
There is more food allergies in this group.
They may have eosinophilic gastritis
if they have sensitivity to foods.
And so getting a GI specialist involved
with kids who have a lot of stomach problems is important.
A geneticist would be helpful to make sense out
of the tests that come back and also advise you
about other children in the future, what
the risks would be.
Sleep studies, if you have sleep apnea, snoring,
that kind of thing are very important.
Most sleep studies only tell you about apnea.
They maybe tell you a little bit about restless legs,
although it's not a formal diagnosis for that.
And most of the sleep problems in autism
are either a combination of anxiety, night terrors, sleep
parasomnias, like sleepwalking type effect,
or it's epilepsy can cause disruption
to sleep at night, as well.
So these are the things you might need to get.
And then psychological or psychiatric comorbid issues,
anxiety, depression, ADHD, sometimes neurologists
can help with some of that.
Sometimes you need a child psychiatrist.
But those are things that you want to work on together
for that kind of thing.

So anyway, it takes a team of specialists
and putting that together that's helpful.
What do we do for support?
Well, in California we have something called
a regional center system.
They help with 0 to 3.
And then there is county and city 0
to 3 programs that often can get play therapy, speech therapy,
occupational therapy going.
But sometimes you can't get a formal diagnosis till age 2,
and there is quite a few people, 1 in 44 with autism.
So part of the problem is early diagnosis, earlier
the better by your pediatricians and the system.
From 12 months, to 18 months, you can screen.
The official recommendation is to screen
between 18 and 24 months by the American Academy of Pediatrics.
Earlier is better, because by the time
you get to regional center, it might
take a month or two to get in.
Then it might take some time to get services.
You have to go through an insurance denial for things
like ABA, applied behavioral analysis therapy,
which is a behavioral modification of speech
therapy and all those things.
And sometimes if you don't get in there until age 2,
you're pretty close to age 3 and then
they go to the school district for services.
So it's really important if you think
your child has a problem in, say, between 10 and 15
months of age, to get them looked at right away so they
can get referred into the centers
and get early help even before a formal diagnosis at age 2,
which is kind of the legal definition of where
the tests are valid.
So basically, 20 to 40 hours of this applied behavioral therapy
does help.
It doesn't help everyone, but it certainly
is a good way to get early language
and certain social behavior started.
And it can help with toilet training,
which is often delayed.
It can help with other things.
Very important we get language going early.
Language delays are what delays progress in autism the most.
And the earlier we get language going, the better.
So basically, this little slide shows you we
get a history and exam.
We may obtain an EEG, genetics, blood tests.
Then we decide if we need an MRI based
on their history, physical findings,
and what the EEG shows.
Then we may treat the EEG, if they have abnormal EEG,
to see if it improves language, because often it's
in the language areas that you see abnormalities,
and also depending on the MRI findings and things like that.
And then if they have clinical seizures, of course
we treat those.
I'm talking about treating subclinical seizures
based on clinical judgment of EEG and other factors.
If they have clinical seizures, we always treat those.
And then if there is behavioral aggression, anxiety,
sleep problems, OCD, psuedobullbar,
rapidly changing mood swings, we have different medicines
for irritability, including atypical antipsychotics,
anxiety medicines like SSRIs.
Melatonin is the most commonly studied and most commonly used
sleep tool to start initially.
And then there's other sleep medicines, if needed.
And then if there is mood anxiety,
and other drugs for those.
And then ABA therapy and speech therapy
and occupational therapy for some of the sensory motor
issues, physical therapy if they're
delayed with big physical problems
are all important to add in.
And so, as you can see every child's
going to be a little bit different.
You're going to have to individualize
some of the therapies.
And this is sort of a global guide.
So this isn't what everybody gets the same thing.
It's not a cookie cutter.
So when you hear about treatments
that are a lot of gimmicks, everybody should be detoxified,
everybody should be this and that,
there is no proof mean that's valid,
but there is no one cookie cutter
that cures autism, since it's not one disease.
It's a spectrum of disease.
And you have to really individually diagnose and find
what's wrong and try and maximize that child's response,
as well as that child's treatment best outcome.
So we try to treat seizures and EEG, try to improve speech,
if that sometimes helps.
We do the speech therapy and supportive stuff, of course.
But from a medical point of view,
if there's mood swing issues, there
are medicines that we've studied to look at those issues.
There is ADHD.
30% of kids with autism respond to typical drugs
like Ritalin when they're ADHD, usually higher functioning
autism kids.
But some of the other kids get a negative response
to that, need other medicines to control moods
and that kind of thing.
And if you need a child psychiatrist
because the doctor who's your pediatrician
or your neurologist is uncomfortable, then
sometimes child psychiatrists get
involved with some of these more psychiatric comorbidities.
I talked about melatonin for sleep,
and also treating sleep apnea, large tonsils.
Sometimes these kids get lots of infections.
Their immune systems don't work as well.
They get ear infections, large tonsils, and adenoids.
Sometimes they get sleep apnea.
Treating that can help sleep, as well.
And we talked about reflux, food allergies,
and pediatric gastroenterologists.
And ferritin, these kids don't have great diets.
They don't like red meat or things with ferritin, iron.
So if the ferritin levels are low
and they're restless in sleep, sometimes giving them
an iron vitamin will help with some of that.
And if they have allergies to foods or things,
referring to allergists is important.
So to date, the only medications approved for irritability
in autism, specifically for irritability in autism
are Risperdal and Aripipazole, which
are two psychotic dopamine-blocking meds, which
are also used for childhood bipolar.
They can cause weight gain and other side effects,
but they are appropriate when the child is
self-injurious or aggressive to others,
and they do also help anxiety and other mood swings.
So again, judicious use.
It doesn't mean every child with autism needs these medicines,
but there are no other specific medicines
approved at this point.
We treat epilepsy with drugs for epilepsy.
We treat anxiety with drugs for anxiety.
We treat ADHD with drugs for ADHD.
We treat reflux and sleep with drugs for sleep or reflux.
So we treat comorbidities, mostly.
There is no definitive studies using cannabidiol,
especially not using THC, which is damaging to young brains.
And getting your child stoned on THC is not an answer.
It's a bad answer to helping kids who
don't sleep or are irritable.
CBD studies are going to be going on.
There some out of Israel that say some behaviors improve,
but it's not a cure.
All and some kids actually get hyper.
And you can have the rare chance of liver irritation
with CBD or THC drugs.
So a lot of people don't tell you that.
So it's very important to work with a doctor who's
very well aware of all this and not
to just jump on internet anecdotal treatments.
It's not necessarily helpful.
And anyway, look for peer reviewed articles
that have maybe not got FDA approval
but valid scientists and valid medical researchers
have shown that this may help.
I did a stem cell study, one of the first
in the world using cord blood stem cells in autism.
We got an inconclusive plus/minus result, which really
didn't show dramatic changes.
Duke has had some similar experience, maybe
some positive results, but in double blind studies, less
conclusive.
There is people overseas in Panama
and other places making huge claims about STEM cell therapy.
The official stem cell society recommendation
is still experimental and participate in valid research
trials.
Don't go off and pay big money for STEM cell trials
at this time.
We don't have any ongoing research at the current time.
And at this point, our facilities
don't really have the resources for that.
But I can tell you that it's not at this time a proven therapy.
The other last thing I want to talk
about is children with autism have a lifetime diagnosis.
They do grow up.
I've been doing this 32 years, and I've
had my own experience with family members
with autism spectrum.
And transition to adult care can be difficult.
We did start a clinic with one of my colleagues, Dr. Kyle here
in Sacramento, and we did make some adult onset diagnoses.
People never knew they had high functioning autism.
We also-- we thought we'd be a lot busier,
but we had a lot of times people end up
in group homes or parents get older,
they're less seeking advice or help.
And so it's important that people get support
through their adult years.
And finding doctors who are willing to take
on adult patients with pediatric neurology
or pediatric conditions like autism can be challenging.
So we've kind of got doctors here like,
Dr. Kyle, who is willing to do it.
There can sometimes be a long wait to get in.
I keep my patients often, and most pediatric neurologist
keep their patients into their early 20s
because there's nowhere to send them.
We try to give a transitional support as much as we can.
There is less support than in the preschool programs
for therapies and things like that,
but there are adult programs, some supported living and group
home options, although with the numbers,
the demand far exceeds the numbers
and there can be long wait lists.
So it's very important that our system, and it's something
we can do better, I'll be honest with you,
develops long term care options for people with autism.
And you might need a psychiatrist,
and we might need to study how these people age.
There may maybe earlier dementia and earlier
aging effects in some people with genetic and other forms
of autism.
They're on a lot of medication.
They may not have a healthy diet they may be overweight,
and all these things can add other burdens
to their life health issues, secondary diabetes, Type 2,
things like that, that we have to try and manage
with the internists and the family practice doctors
and the neurologists and the psychiatrists as people age.
So I think that these are things we can aim as a culture,
both within Sutter and within our state and our country
in general, to help with these type of changes.
So in conclusion, autism is the number one
developmental disorder in neurology and pediatrics.
It's 1 in 44 kids.
This 1 in 48's a typo.
It should have been 1 in 44.
5 to 6 to 1 boy to girl ratio.
It's heterogenous, multiple causes, not one cause.
It can be in multiple generations in families
and affect the siblings, as well as the parents
and grandparents, in terms of needing support
for the whole family.
Be aware there can be multiple things that cause autism.
Epilepsy can cause autism, infections, injuries.
But also, if you have genetics, not every gene is the same.
You might have a severe case or a mild case with the same gene.
And let's do appropriate referrals and testing
to get the support from gastroenterologists,
geneticists, and other doctors.
And our goal is to try and improve therapy
as much as we can and functional life.
So I'm going to conclude on that.
I think it's time for questions and answers
and thank you for tuning in and giving your attention today.
MODERATOR: Thank you, Dr. Chez, for all that great information.
And we do have many, many questions today,
so we are going to do our best to get to as many of them
as we can.
All right, Dr. Chez, so our first question today is can you
talk about what the difference is between autism
and Asperger's and ADHD?

MICHAEL G. CHEZ: Sure.
So the difference between autism--
first of all, autism is a spectrum disorder
that includes high functioning and low functioning.
Asperger was an Austrian German Doctor
who at the time of the Nazis in Europe
was kind of discovered, forgotten about, rediscovered,
and now kind of negatively portrayed
because he may have participated in some bad experiments
in the Nazi era.
But the bottom line is that high functioning IQ,
high functioning people are often
sort of synonymously referred to as Asperger's patients.
That is, people who have higher IQ
and have autistic social disabilities,
maybe some communication gap socially,
but they tend to be fluent in language
and they tend to be fairly functional, even if they don't
hold as good a job as they should for their intelligence
level.
They may not be as independent as you think
they would be with their IQ.
ADHD is a condition where you have trouble paying attention
associated with the cingulate gyrus and the anterior
part of the brain.
Kids can have ADHD with very commonly in childhood.
1 in 15 kids may have ADHD.
Autism is 1 in 44 kids.
They overlap.
When you have problems with the frontal executive
part of the brain, you may have aged symptoms
as a comorbid factor in autism.
So you can have ADHD and autism.
You can have ADHD alone.
If you have Asperger's, you have a type
of high functioning autism.
I hope that explains it.

MODERATOR: Yes, that does.
Thank you so much.
Can you talk about-- going back to Asperger's
or high functioning autism, can you
describe what some of those symptoms would look like?
MICHAEL G. CHEZ: Well, in childhood, they're
usually delayed in language until around age 2 to 3.
Then when they start to talk, they
may talk like a mini professor, or they
may have narrow interests, or they may read early
and be seeming very bright.
They may have all the knowledge in the world about dinosaurs
that most adults don't have, or they
may know everything about, say, a certain topic like the cosmos
or the stars or astrology or whatever,
but they don't necessarily know how to socially function
or ask for a drink or do common daily things, you know?
And they have trouble socializing with other kids.
And it's usually associated with they're very smart, very
high functioning, but they seem overly mature for their ages.
They may read early, but they don't quite
have the skill set to manage socially.
And they may not like hygiene or showering
or remember to brush their teeth,
even though they're very intelligent.
Some of these kids grow up, they need
reminders for daily activities, remember to take a shower,
remember to clean up.
They may get good grades, but then they
don't apply themselves where those grades translate
into a job or career.
Now, some can become engineers.
Some can become computer scientists.
Some, there are stories of people doing amazingly well.
There are famous people who probably
had Asperger's, like Albert Einstein, we think,
probably had it.
But they are deficient in socialization
and often have an initial delay in language.
So it's a different presentation.
So they're usually the higher functioning autistic kids
who often seem really intelligent
in the preschool years in some ways.
But then they may be slow starting in other ways
and have social deficits their whole life.
So again, I'm giving up a stereotypic picture.
There is a range of almost not noticeable
to very noticeable differences, so bear that in mind.
MODERATOR: Great.
Thank you so much for explaining that, Dr. Chez.
So our next question is how can extended family
support and interact with an autistic child and his family
during gatherings like birthday parties and holidays?
How can they support that child?
MICHAEL G. CHEZ: I think one of the biggest
fears parents of autism have is being judged that they're not
good parents if their child has a behavior that's atypical,
like they do self-stimulating noises
or they are hand flapping or they're disruptive at a family
meal or they get stressed out that being-- loud noises
or crowds may bother them.
So I think that families can be supportive by minimalizing
background noise, maybe keeping the gatherings in smaller
batches of groups, sitting people
in smaller tables instead of one big large table,
maybe being considerate of not criticizing the parents
if the child's acting up that all they need
is more discipline.
Because sometimes yelling and screaming
at a child or discipline in a typical way
that some people think is appropriate
may actually make that child more stressed
and act out worse.
Calm, slow talking is better than screaming or yelling
at a kid who doesn't process language well, for instance.
So getting mad at them doesn't necessarily help.
And so behavioral modification, and that's a tough job.
And I think a lot of parents need supportive people
understanding and allow their kid
to be different allow them to manage their own child's
discipline.
Don't try to step in.
Learning how to work with the parents' behavioral plan
and being able to give the parents some respite
is another way families can be supportive.
If they can keep that child in a comfortable environment
while the parents get a break, they
could support them that way would
be great at family gatherings.
Give the parents a chance to socialize and not
just manage the kid.
So extended family that's interested in helping
could do that.
So I think parents are dying for support.
They just don't want critical support, you know?
MODERATOR: Great information, Dr. Chez.
Thank you.
What about teenagers?
We've had a number of people ask questions about teenagers
and young adults who don't really even acknowledge
that they have--
that they are on the autism spectrum.
And how can they support them and help them
as they grow into an adult?
MICHAEL G. CHEZ: That's a really tough short answer.
Let me just say that high functioning autistic people,
especially with legal rights issues
and when you can have parents involved or not,
if the child refuses they have the parent get involved,
it often leads to a lot of risk for legal and social problems.
Cause and effect, planning ahead,
these are problems autistic people they have.
They may be naive in terms of seeing
all the social consequences to certain behaviors.
They may be taken advantage of legally or sexually or other
ways.
They could be misled by other kids.
Sometimes they have different priorities or interests.
So they may want to play the latest video
game instead of doing their studying or going to school.
We've had some kids who get straight A's then a new video
game comes out and then they flunk the next semester
because they've just played video games the whole time.
So it's a hard group of high functioning
can sometimes be harder to manage than lower functioning
obviously impaired children.
And so I think what you have to do is get them counseling
and support so they can have someone to talk to and help
them, educate them.
Besides, sometimes a parent telling you something
isn't the same as a professional telling you something.
I think getting some type of behavioral agreement in place
to help them manage their difficulties that they
may have, give them support if they get depressed or anxious.
A lot of depression and anxiety, realizing their difference
comes out in adolescence, making sure they get support for that.
And trying to-- by time-- before they're 18,
have honest conversations of can you manage your checkbook?
Can you manage this?
Do you want to sign me on to help you manage these things,
which legal processes above 18, conservation
for legal or monetary or health care decisions
can be arranged so that family can support that person as they
get older.
If you go to college and you don't
have a family member allowed to talk to you,
it's just like HIPAA laws in medicine.
The professor won't recognize when you have a bad problem,
but if your mom or dad are allowed
or a family member is allowed to talk to the professor
for you to help communicate some of those gaps
and work with the university, recognizing those gaps,
people can put those models into place,
similar to like an IEP in school.
But without the person's permission or willingness,
once they're 18, if you don't have that in place,
that can be a problem.
So I definitely think thinking ahead and not
waiting till they're 17 and a half or almost 18
to make those decisions is important.
Start when they're 14 or 15 and start
getting an idea of where that child is
going to be able to function.
Can they go to college?
Can they live independently?
If not, you have to step up and really
make some tough decisions and make
sure they understand that you're not trying to control them,
but be supportive.
So those are tough ages for anybody.
Raising a teenager is hard in the best of circumstances,
and it's even tougher with this.
MODERATOR: Great.
Thank you so much, Dr. Chez.
We've had a couple people asking about language.
They have written in about that their child was not speaking,
and then around age seven they have
started saying a few words.
Will that language continue to improve as they get older
so that they'll have regular conversations,
or will it just stay limited?

MICHAEL G. CHEZ: Well, that's a really broad question.
Let me just try and be--
answer it as best I can.
Most children and languages develop before age 4 to 5.
Up for age 6 is the most chance you have
of getting a normal sounding fluent language in.
For instance, when people go to a foreign country,
they have an accent if they moved
after age 6 or 7 years of age.
If they move before age 6 or 7, their language skills
sound like a native speaker, OK?
So we know that language changes the way you learn after age 6
or so.
The brain is wired differently to learn language
after age 6 than before age 6.
Things change and rewire.
If you don't have language age 6 or 7,
it's very hard to say you're going to ever have language,
because it's much harder to get new language after age 6 or 7
if your mouth than your body doesn't make language by then.
But if someone's already starting
to make language all of a sudden at age 7,
then it should continue to improve to some degree,
but will probably always be impaired.
Statistically, that's the most likely answer.
The more language you have before age 5,
the better you are.
But again, I'm not going to say someone
who gets some some at age 7 won't continue to get more.
They probably will.
If there is anxiety holding people back
and they can talk like they just don't, those kids
will have the best chance of any more language at an older age.
That's kind of the general answer.
MODERATOR: Thank you so much, Dr. Chez.
So Dr. Chez, if autism is caused by some sort of a trauma,
is there a chance that it can be cured at some point?
MICHAEL G. CHEZ: Well, it depends
if the trauma is temporary or if it's repetitive.
Like, if you have a stroke or someone hit you in the head
and you have a massive bleed in your brain
and it causes permanent damage and that causes you a change,
it's hard to fix that kind of damage to the brain, right?
But in other cases, what I can tell
you is that if it's like swelling of the brain
or after a concussion or if it's from seizures
and you treat those things, those type of things
might be reversible, OK?
So it really depends on the cause
and how bad the damage is.
So it's a case by case analysis.
I'm not saying it's impossible.
There is some possibility.
And we're doing more stuff with stem cells for stroke and stem
cells for other things.
And those type of researches, maybe
in the next 5 to 10 years, we can repair damaged brain
better.
So there may be some hope there.
But that's actually putting brain cells back
into the brain, research type of things that have
been done for stroke victims.
So maybe there is some hope there, as well.
But it's awfully early to say how successful that
will be for that kind of thing.
But I will say it's a case by case question, you know?
MODERATOR: Thank you so much.
So Dr. Chez, can you talk about the benefits
for having a neurological evaluation
if a child has already been diagnosed
and is currently receiving ABA support?
Can you elaborate on that, please?
MICHAEL G. CHEZ: Well, I am biased
because I am a neurologist, so I would say it's very valuable.
But all kidding aside, having a diagnosis
from a psychologist or a school or a regional center therapy
person who gives the diagnosis is great,
because it gets you services.
So there the side of the coin is what services can
help my child, speech therapy--
you don't need a neurologist to get those things, ABA, speech.
What you need the neurologist for
or someone medically is to say, what are the causes?
Did we make sure that the brain was formed normally
and the physical exam suggests it's working correctly?
What is the maximal function this child
could have neurologically?
Do they have seizures, potentially?
Are there secret seizures going on that I don't see?
Is there sleep a problem?
Do I need help with that?
Are there other physical things that
are going on in their nervous system that
are affecting their gut, their sleep,
their potential for seizures?
Their language isn't coming along.
Is there a physical reason?
Would treatments of some type help with that?
Are there mood swings getting in the way of their therapy?
If they're having tantrums all day long
but you can control their mood swings
or tantrums or attention, will they
learn better and get better therapy?
So I mean, that's the benefit of seeing someone with expertise
in neurology, to help you.
It's a neurological disease.
It affects the brain.
Therefore, you should see a neurologist,
just to make sure you're not missing something else.
MODERATOR: Great.
Thank you so much.
And unfortunately, we are out of time.
I know we did not get to all of our questions,
but we are out of time.
So I would like to turn things back over to you to wrap it up,
Dr. Chez.
MICHAEL G. CHEZ: OK, thank you.
So-- let me see if I can get this to work here.
This is my office number.
Obviously, you can call our general pediatric neurology
number, as well, to get referrals
and to have your child evaluated.
I work with three other child neurologists and two nurse
practitioners.
And we have a team of psychologists
who can see some of the patients, not all,
because of the backlog.
It gets high.
And then adult neurology, Dr. Kyle
runs a clinic downtown that you can try and get into his stand
clinic in Sacramento.
But other areas may have people, as well.
But I can tell you that I also wrote a book that's
a nice, easy read, and it's fairly up to date
on autism and its medical management,
talking about a lot of things we talked about today.
And you can get that your library.
You don't necessarily have to buy it.
I'm not trying to sell you a book, but it's a resource.