Autism — what we know (and what we don't know yet) | Wendy Chung

Prevodilac: Tereza Ivanovic Lektor: Miloš Milosavljević

"Why?"

‚‚Zašto?"

"Why?" is a question

‚‚Zašto?" je pitanje

that parents ask me all the time.

koje mi roditelji stalno postavljaju.

"Why did my child develop autism?"

‚‚Zašto se kod mog deteta razvio autizam?"

As a pediatrician, as a geneticist, as a researcher,

Kao pedijatar, kao genetičar, kao istraživač,

we try and address that question.

pokušavam da odgovorim na ovo pitanje.

But autism is not a single condition.

Autizam nije jednostavno stanje.

It's actually a spectrum of disorders,

To je spektar poremećaja,

a spectrum that ranges, for instance,

spektar koji obuhvata, na primer,

from Justin, a 13-year-old boy

Džastina, trinaestogodišnjaka

who's not verbal, who can't speak,

koji ne može da govori,

who communicates by using an iPad

koji komunicira pomoću ajpeda,

to touch pictures to communicate

dodirujući slike da bi izrazio

his thoughts and his concerns,

svoje misli i probleme,

a little boy who, when he gets upset,

jedan mali dečak koji, kad se uznemiri,

will start rocking,

počinje da se ljulja,

and eventually, when he's disturbed enough,

a kad je već mnogo uznemiren,

will bang his head to the point

toliko se udara glavom

that he can actually cut it open and require stitches.

da se raseče i mora da se zašije.

That same diagnosis of autism, though,

Autizam je dijagnostikovan

also applies to Gabriel,

i kod Gabrijela,

another 13-year-old boy

drugog trinaestogodišnjaka,

who has quite a different set of challenges.

koji ima sasvim drugačije izazove.

He's actually quite remarkably gifted in mathematics.

Izuzetno je nadaren za matematiku.

He can multiple three numbers by three numbers

On sa lakoćom pomnoži trocifreni broj sa trocifrenim

in his head with ease,

napamet,

yet when it comes to trying to have a conversation,

međutim, kad treba da razgovara,

he has great difficulty.

ima velike poteškoće.

He doesn't make eye contact.

Ne uspostavlja kontakt očima.

He has difficulty starting a conversation,

Teško započinje razgovor,

feels awkward,

oseća se neugodno,

and when he gets nervous,

a kada se iznervira,

he actually shuts down.

on se blokira.

Yet both of these boys

Ipak, ova dva dečaka

have the same diagnosis of autism spectrum disorder.

imaju istu dijagnozu, a to je spektar autističnih poremećaja.

One of the things that concerns us

Jedna od stvari koja nas brine

is whether or not there really is

je da li zaista postoji

an epidemic of autism.

epidemija autizma.

These days, one in 88 children

Danas, kod svakog 88. deteta

will be diagnosed with autism,

je dijagnostikovan autizam

and the question is,

i pitanje je

why does this graph look this way?

zašto ovaj grafikon izgleda ovako?

Has that number been increasing

Da li se brojka vremenom

dramatically over time?

dramatično povećava?

Or is it because we have now started labeling

Ili je to zato što smo počeli da etiketiramo

individuals with autism,

osobe sa autizmom

simply giving them a diagnosis

jednostavno postavljajući im dijagnozu,

when they were still present there before

iako su one i ranije postojale

yet simply didn't have that label?

ali nisu bile etiketirane?

And in fact, in the late 1980s, the early 1990s,

U stvari, krajem '80-ih i početkom '90-ih godina,

legislation was passed

donet je zakon

that actually provided individuals with autism

koji je osobama sa autizmom

with resources, with access to educational materials

obezbedio pristup obrazovnim materijalima

that would help them.

koji bi im bili od pomoći.

With that increased awareness, more parents,

Time je podignuta svest, pa je sve više roditelja,

more pediatricians, more educators

sve više pedijatara i vaspitača

learned to recognize the features of autism.

naučilo da prepozna odlike autizma.

As a result of that, more individuals were diagnosed

Kao rezultat toga, bilo je više postavljenih dijagnoza

and got access to the resources they needed.

i tim osobama je omogućen pristup potrebnim resursima.

In addition, we've changed our definition over time,

Vremenom se promenila i definicija,

so in fact we've widened the definition of autism,

proširili smo pojam autizma,

and that accounts for some of

i zbog toga imamo

the increased prevalence that we see.

ovu povećanu rasprostranjenost.

The next question everyone wonders is,

Sledeće pitanje koje svi postavljaju je:

what caused autism?

šta je uzrok autizma?

And a common misconception

Uobičajena zabluda je

is that vaccines cause autism.

da su vakcine uzrok autizma.

But let me be very clear:

Da pojasnim.

Vaccines do not cause autism.

Vakcine ne prouzrokuju autizam.

(Applause)

(Aplauz)

In fact, the original research study

Originalna istarživačka studija

that suggested that was the case

koja je to nagoveštavala

was completely fraudulent.

bila je lažna.

It was actually retracted from the journal Lancet,

Povučena je iz časopisa Lanset

in which it was published,

u kojem je i štampana,

and that author, a physician,

a autoru teksta, lekaru,

had his medical license taken away from him.

oduzeta je dozvola za rad.

(Applause)

(Aplauz)

The Institute of Medicine,

Medicinski institut

The Centers for Disease Control,

i Centar za kontrolu bolesti

have repeatedly investigated this

u više navrata je istraživao ovu temu

and there is no credible evidence

i nisu našli uverljiv dokaz o tome

that vaccines cause autism.

da su vakcine uzrok autizma.

Furthermore,

Osim toga, mislilo se da je

one of the ingredients in vaccines,

jedan od sastojaka vakcine,

something called thimerosal,

timerosal,

was thought to be what the cause of autism was.

uzrok autizmu.

That was actually removed from vaccines

Sastojak je odstranjen iz vakcina

in the year 1992,

1992. godine

and you can see that it really did not have an effect

i vidi se da nije imao uticaja

in what happened with the prevalence of autism.

na porast autizma.

So again, there is no evidence

Ponavljam, nema dokaza

that this is the answer.

da je to zbog vakcina.

So the question remains, what does cause autism?

Ostaje dakle pitanje, šta je uzrok autizma?

In fact, there's probably not one single answer.

Verovatno nema jednostavnog odgovora.

Just as autism is a spectrum,

Autizam je čitav spektar

there's a spectrum of etiologies,

etiologija,

a spectrum of causes.

spektar uzroka.

Based on epidemiological data,

Prema epidemiološkim podacima,

we know that one of the causes,

znamo jedan od uzroka

or one of the associations, I should say,

ili saveznika, rekla bih,

is advanced paternal age,

a to je kasno roditeljstvo

that is, increasing age of the father

odnosno starija dob oca

at the time of conception.

u vreme začeća.

In addition, another vulnerable

Pored ovoga, još jedan ranjiv

and critical period in terms of development

i kritičan period u smislu razvoja bolesti

is when the mother is pregnant.

je trudnoća majke.

During that period, while the fetal brain is developing,

Dok se razvija mozak fetusa,

we know that exposure to certain agents

znamo da izloženost nekim činiocima

can actually increase the risk of autism.

može povećati rizik za pojavu autizma.

In particular, there's a medication, valproic acid,

Tačnije, postoji lek, valproična kiselina,

which mothers with epilepsy sometimes take,

koji epileptične majke ponekad uzimaju,

we know can increase that risk of autism.

a to može povećati rizik za pojavu autizma.

In addition, there can be some infectious agents

Takođe mogu postojati infekcije

that can also cause autism.

koje mogu prouzrokovati autizam.

And one of the things I'm going to spend

Nešto čemu ću posvetiti mnogo vremena

a lot of time focusing on

su geni koji mogu

are the genes that can cause autism.

da prouzrokuju autizam.

I'm focusing on this not because genes

Ne samo zbog toga što su geni

are the only cause of autism,

jedini uzročnici autizma,

but it's a cause of autism

već uzrok autizma

that we can readily define

možemo lako definisati

and be able to better understand the biology

i razumeti bolje biologiju

and understand better how the brain works

i to kako radi mozak,

so that we can come up with strategies

i onda možemo da smislimo

to be able to intervene.

strategije za delovanje.

One of the genetic factors that we don't understand,

Jedan od genetskih faktora koje ne razumemo

however, is the difference that we see

je razlika koju vidimo

in terms of males and females.

u smislu muško-žensko.

Males are affected four to one compared to females

Muškarci, u odnosu na žene, pogođeni su autizmom

with autism,

u odnosu 4:1

and we really don't understand what that cause is.

i zaista ne razumemo uzrok tome.

One of the ways that we can understand

Jedan od načina da razumemo

that genetics is a factor

da je uzrok tome genetika,

is by looking at something called

je da osmotrimo takozvanu

the concordance rate.

stopu podudarnosti.

In other words, if one sibling has autism,

Drugim rečima, ako jedan od braće ima autizam,

what's the probability

kolika je verovatnoća

that another sibling in that family will have autism?

da će ga i drugi imati?

And we can look in particular

Naročito možemo posmatrati

at three types of siblings:

tri vrste braće:

identical twins,

identične blizance,

twins that actually share 100 percent

one koji dele 100 posto

of their genetic information

genetičkih informacija,

and shared the same intrauterine environment,

kao i intrauterinu sredinu,

versus fraternal twins,

naspram dvojajčanih blizanaca

twins that actually share 50 percent

koji dele 50 posto

of their genetic information,

genetičkih informacija,

versus regular siblings,

nasuprot obične braće -

brother-sister, sister-sister,

brata i sestre, dve sestre,

also sharing 50 percent of their genetic information,

koje takođe dele 50 posto genetičkih informacija

yet not sharing the same intrauterine environment.

ali ne dele istu intrauterinu okolinu.

And when you look at those concordance ratios,

Posmatrajući stopu podudarnosti

one of the striking things that you will see

upečatljivo je da je

is that in identical twins,

kod identičnih blizanaca

that concordance rate is 77 percent.

stopa podudarnosti 77 posto.

Remarkably, though,

Upadljivo je,

it's not 100 percent.

da stopa nije 100 posto.

It is not that genes account for all of the risk for autism,

Nisu samo geni uzročnici autizma,

but yet they account for a lot of that risk,

iako su nosioci rizika,

because when you look at fraternal twins,

jer kad pogledate dvojajčane blizance,

that concordance rate is only 31 percent.

njihova stopa podudarnosti je samo 31 posto.

On the other hand, there is a difference

S druge strane, ima razlike

between those fraternal twins and the siblings,

između dvojajčanih blizanaca i obične braće.

suggesting that there are common exposures

Postoji zajednička izloženost

for those fraternal twins

kod dvojajčanih blizanaca

that may not be shared as commonly

koja nije uobičajena

with siblings alone.

kod obične braće.

So this provides some of the data

Ovo nam pruža podatke

that autism is genetic.

da je autizam nasledna bolest.

Well, how genetic is it?

Ali, koliko je nasledna?

When we compare it to other conditions

Kada ga uporedimo

that we're familiar with,

sa drugim poznatim stanjima

things like cancer, heart disease, diabetes,

kao što su kancer, bolesti srca, dijabetes,

in fact, genetics plays a much larger role in autism

u autizmu genetika igra veću ulogu

than it does in any of these other conditions.

nego u ostalim navedenim bolestima.

But with this, that doesn't tell us what the genes are.

Ali još uvek ne znamo koji su to geni.

It doesn't even tell us in any one child,

Ne možemo utvrditi ni kod jednog deteta

is it one gene

da li je to jedan gen

or potentially a combination of genes?

ili možda kombinacija gena.

And so in fact, in some individuals with autism,

Kod nekih ljudi

it is genetic!

autizam je genetski!

That is, that it is one single,

To znači da postoji jedan jedini

powerful, deterministic gene

moćni, deterministički gen

that causes the autism.

koji je uzrok autizma.

However, in other individuals,

Kod nekih drugih osoba

it's genetic, that is,

je takođe genetski -

that it's actually a combination of genes

kombinacija gena

in part with the developmental process

i razvojni proces

that ultimately determines that risk for autism.

na kraju određuju rizik od autizma.

We don't know in any one person, necessarily,

Ne možemo odrediti ni u jednom slučaju

which of those two answers it is

koji je od ova dva odgovora tačan

until we start digging deeper.

dok ne zagrebemo dublje.

So the question becomes,

Pitanje je, dakle,

how can we start to identify

kako možemo identifikovati

what exactly those genes are.

koji su to geni?

And let me pose something

Sad ću vam predstaviti nešto

that might not be intuitive.

što ne mora biti intuitivno.

In certain individuals,

Određene osobe

they can have autism

mogu imati autizam

for a reason that is genetic

zbog genetskih razloga,

but yet not because of autism running in the family.

a ne naslednih.

And the reason is because in certain individuals,

To je zato što neke osobe

they can actually have genetic changes or mutations

mogu imati genetske promene ili mutacije

that are not passed down from the mother

koje ne potiču od majke

or from the father,

ili od oca

but actually start brand new in them,

nego počinju u njima samima,

mutations that are present

to su mutacije koje su prisutne

in the egg or the sperm

u jajašcu ili u spermi

at the time of conception

u vreme začeća

but have not been passed down

ali se ne prenose

generation through generation within the family.

sa generacije na generaciju unutar porodice.

And we can actually use that strategy

Ovu strategiju možemo koristiti

to now understand and to identify

da bismo razumeli i identifikovali

those genes causing autism in those individuals.

one gene koji su uzrok autizma kod tih pojedinaca.

So in fact, at the Simons Foundation,

U fondaciji Sajmons uzeli smo u posmatranje

we took 2,600 individuals

2600 osoba

that had no family history of autism,

koje u porodici nisu imale autizam.

and we took that child and their mother and father

Posmatrali smo to dete i njegove majku i oca

and used them to try and understand

da bismo shvatili

what were those genes

koji su to geni

causing autism in those cases?

koji su prouzrokovali autizam u ovim slučajevima.

To do that, we actually had to comprehensively

Morali smo sveobuhvatno

be able to look at all that genetic information

da proučimo genetske informacije

and determine what those differences were

i da odredimo razlike

between the mother, the father and the child.

između majke, oca i deteta.

In doing so, I apologize,

Tokom tog izučavanja, izvinite,

I'm going to use an outdated analogy

sada ću upotrebiti jednu prevaziđenu analogiju

of encyclopedias rather than Wikipedia,

iz enciklopedije, a ne iz Vikipedije,

but I'm going to do so to try and help make the point

ali to činim da bih istakla da

that as we did this inventory,

dok smo ovo otkrivali,

we needed to be able to look at

morali smo da pregledamo

massive amounts of information.

ogromnu količinu podataka.

Our genetic information is organized

Naše genetske informacije su složene

into a set of 46 volumes,

u 46 tomova

and when we did that, we had to be able to account

i kad smo to završili,

for each of those 46 volumes,

morali smo da uzmemo u obzir svih 46 tomova

because in some cases with autism,

jer u nekim slučajevima autizma

there's actually a single volume that's missing.

može nedostajati jedan tom.

We had to get more granular than that, though,

Morali smo da budemo sitničavi

and so we had to start opening those books,

i počeli smo da otvaramo knjige,

and in some cases, the genetic change

i u nekim slučajevima genetska promena

was more subtle.

je bila suptilnija.

It might have been a single paragraph that was missing,

Negde je nedostajao samo jedan pasus

or yet, even more subtle than that,

ili, još suptilnije,

a single letter,

samo jedno slovo,

one out of three billion letters

jedno od tri milijarde slova

that was changed, that was altered,

koje se promenilo,

yet had profound effects

a ipak je imalo dubok uticaj

in terms of how the brain functions

na moždane funkcije

and affects behavior.

i ponašanje.

In doing this within these families,

Tokom proučavanja ovih porodica

we were able to account for approximately

mogli smo proceniti približno

25 percent of the individuals

25 posto osoba

and determine that there was a single

i odrediti da je postojao jedan jedini

powerful genetic factor

moćni genetski faktor

that caused autism within those families.

koji je bio uzročnik autizma u tim porodicama.

On the other hand, there's 75 percent

Sa druge strane, u 75 posto slučajeva

that we still haven't figured out.

nismo otkrili uzrok.

As we did this, though,

Ovo je bilo

it was really quite humbling,

prilično obeshrabrujuće

because we realized that there was not simply

jer smo shvatili da ne postoji samo jedan gen

one gene for autism.

koji je uzročnik autizma.

In fact, the current estimates are

Sadašnja procena je da

that there are 200 to 400 different genes

postoji između 200 i 400 različitih gena

that can cause autism.

urzočnika autizma.

And that explains, in part,

Ovo je delimično objašnjenje

why we see such a broad spectrum

zašto postoji tako širok spektar

in terms of its effects.

njegovih efekata.

Although there are that many genes,

Iako ima toliko mnogo gena,

there is some method to the madness.

postoji neki sistem u tom ludilu.

It's not simply random

Nije samo nasumično

200, 400 different genes,

200 ili 400 različitih gena,

but in fact they fit together.

nego se oni u potpunosti uklapaju.

They fit together in a pathway.

Uklapaju se na putanji.

They fit together in a network

Uklapaju se u mrežu

that's starting to make sense now

koja sad ima smisla

in terms of how the brain functions.

iz ugla funkcionisanja mozga.

We're starting to have a bottom-up approach

Počinjemo da primenjujemo pristup odozdo nagore,

where we're identifying those genes,

da identifikujemo gene,

those proteins, those molecules,

proteine, molekule,

understanding how they interact together

otkrivamo u kakvoj su interakciji

to make that neuron work,

da bi taj neuron funkcionisao,

understanding how those neurons interact together

da shvatamo kako neuroni međusobno deluju

to make circuits work,

da bi obezbedili da mreža radi,

and understand how those circuits work

i da razumemo kako te mreže rade

to now control behavior,

i upravljaju ponašanjem,

and understand that both in individuals with autism

i da razumemo to, kako kod osoba sa autizmom,

as well as individuals who have normal cognition.

tako i kod osoba sa normalnom spoznajom.

But early diagnosis is a key for us.

Ključ za uspeh je rana dijagnoza.

Being able to make that diagnosis

Sposobnost da postavimo dijagnozu

of someone who's susceptible

kod nekoga ko je prijemčiv

at a time in a window

na vreme,

where we have the ability to transform,

kad još možemo da transformišemo,

to be able to impact

kad još možemo imati uticaja

that growing, developing brain is critical.

na moždani razvoj.

And so folks like Ami Klin have developed methods

Ami Klin je razvio metodu

to be able to take infants, small babies,

koja kod novorođenčadi omogućuje

and be able to use biomarkers,

upotrebu biomarkera,

in this case eye contact and eye tracking,

u ovom slučaju kontakt očima i praćenje oka,

to identify an infant at risk.

da bi se otkrio rizik od bolesti.

This particular infant, you can see,

Ova beba, vidite,

making very good eye contact with this woman

ostvaruje veoma dobar vizuelni kontakt sa ovom ženom,

as she's singing "Itsy, Bitsy Spider,"

dok ona peva pesmicu,

in fact is not going to develop autism.

i kod nje se neće razviti autizam.

This baby we know is going to be in the clear.

Ova beba će biti bezbedna.

On the other hand, this other baby

S druge strane, kod ove druge bebe

is going to go on to develop autism.

će se razviti autizam.

In this particular child, you can see,

Kao što vidite, ovo dete

it's not making good eye contact.

ne ostvaruje dobar kontakt očima.

Instead of the eyes focusing in

Umesto da se oči fokusiraju

and having that social connection,

i ostvare društveni kontakt,

looking at the mouth, looking at the nose,

one gledaju u usta ili nos,

looking off in another direction,

gledaju u drugom smeru

but not again socially connecting,

ne ostvarujući socijalni kontakt.

and being able to do this on a very large scale,

Mogućnost da se ovo radi masovno,

screen infants, screen children for autism,

skeniranje novorođenčadi i dece na autizam

through something very robust, very reliable,

pomoću veoma pouzdane metode,

is going to be very helpful to us in terms of being

biće od pomoći

able to intervene at an early stage

da se interveniše u početnoj fazi

when we can have the greatest impact.

kad možemo najviše da utičemo.

How are we going to intervene?

Kako ćemo da intervenišemo?

It's probably going to be a combination of factors.

Biće to kombinacija raznih faktora.

In part, in some individuals,

Kod nekih ćemo delom

we're going to try and use medications.

pokušati sa lekovima.

And so in fact, identifying the genes for autism

Otkrivanje gena, uzročnika autizma

is important for us

nam je veoma važno

to identify drug targets,

da bismo odredili lekove,

to identify things that we might be able to impact

da bismo otkrili šta je ono na šta možemo uticati

and can be certain that that's really

i da budemo sigurni

what we need to do in autism.

da je to ono što treba da činimo.

But that's not going to be the only answer.

Ali ovo neće biti jedini odgovor.

Beyond just drugs, we're going to use educational strategies.

Osim lekova, koristićemo i obrazovne strategije.

Individuals with autism,

Osobe sa autizmom su

some of them are wired a little bit differently.

malo drugačije sazdane.

They learn in a different way.

Oni uče na drugačiji način.

They absorb their surroundings in a different way,

Oni upijaju sredinu na drugačiji način

and we need to be able to educate them

i moramo se osposobiti da bi ih obrazovali

in a way that serves them best.

na način koji im najviše odgovara.

Beyond that, there are a lot of individuals

Osim toga, ovde ima mnogo osoba

in this room who have great ideas

sa sjajnim idejama

in terms of new technologies we can use,

u smislu novih tehnologija koje možemo koristiti,

everything from devices we can use to train the brain

sve od uređaja koje možemo koristiti za treniranje mozga

to be able to make it more efficient

da bi postao efikasniji

and to compensate for areas in which

i nadoknadio one oblasti

it has a little bit of trouble,

u kojima ima malo problema,

to even things like Google Glass.

možemo koristiti čak i Gugl naočare.

You could imagine, for instance, Gabriel,

Zamislite Gabrijela, na primer,

with his social awkwardness,

koji je u društvu nespretan,

might be able to wear Google Glass

da nosi Gugl naočare

with an earpiece in his ear,

sa slušalicama

and have a coach be able to help him,

i da ima trenera koji bi mu pomogao

be able to help think about conversations,

da razmišlja o konverzaciji,

conversation-starters,

o pokretanju konverzacije,

being able to even perhaps one day

da bi jednog dana možda

invite a girl out on a date.

pozvao i devojku na satanak.

All of these new technologies

Sve ove nove tehnologije nam

just offer tremendous opportunities

nude ogromne mogućnosti

for us to be able to impact

da utičemo

the individuals with autism,

na osobe sa autizmom,

but yet we have a long way to go.

ali predstoji nam još dugačak put.

As much as we know,

Mnogo znamo,

there is so much more that we don't know,

ali ima još mnogo toga što ne znamo,

and so I invite all of you

zato vas sve pozivam

to be able to help us think about

da razmislite o ovome,

how to do this better,

kako da ovo poboljšamo,

to use as a community our collective wisdom

kako da kao društvo upotrebimo zajedničku mudrost

to be able to make a difference,

da bismo napravili promenu,

and in particular,

a posebno,

for the individuals in families with autism,

pozivam porodice koje imaju člana obolelog od autizma

I invite you to join the interactive autism network,

da se pridruže interaktivnoj mreži o autizmu

to be part of the solution to this,

i da budu deo rešenja ovog problema,

because it's going to take really a lot of us

jer će biti potrebno mnogo nas

to think about what's important,

da misli o tome šta je važno,

what's going to be a meaningful difference.

šta je to što će predstavljati značajnu razliku.

As we think about something

Dok razmišljamo o nečemu

that's potentially a solution,

što je moguće rešenje,

how well does it work?

koliko dobro to funkcioniše?

Is it something that's really going to make a difference

Da li će to stvarno promeniti nešto

in your lives, as an individual,

u vašim životima kao pojedinca,

as a family with autism?

kao porodice sa autizmom?

We're going to need individuals of all ages,

Trebaće nam osobe svih uzrasta,

from the young to the old,

i mladi i stari,

and with all different shapes and sizes

sa svim oblicima i razmerama

of the autism spectrum disorder

poremećaja koji se zove autizam

to make sure that we can have an impact.

da bismo se uverili da možemo imati uticaj.

So I invite all of you to join the mission

Pozivam vas sve da se pridružite misiji

and to help to be able to make the lives

i pomognete da životi

of individuals with autism

osoba sa autizmom

so much better and so much richer.

postanu bolji i bogatiji.

Thank you.

Hvala vam.

(Applause)

(Aplauz)