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

Translator: Carme Paz Reviewer: Serv. de Norm. Lingüística U. de Santiago de Compostela

"Why?"

"Por que?"

"Why?" is a question

"Por que?" é unha pregunta

that parents ask me all the time.

que os pais me fan deseguido.

"Why did my child develop autism?"

"Por que o meu fillo ten autismo?"

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

Os pediatras, os xenetistas, os investigadores

we try and address that question.

intentamos atopar a resposta a esa pregunta.

But autism is not a single condition.

Mais o autismo non é unha patoloxía única.

It's actually a spectrum of disorders,

En realidade, é un espectro de trastornos,

a spectrum that ranges, for instance,

un espectro que abrangue, por exemplo,

from Justin, a 13-year-old boy

a Justin, un rapaz de 13 anos

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

que non usa palabras, que non fala,

who communicates by using an iPad

que se comunica cun iPad

to touch pictures to communicate

tocando as imaxes para comunicar

his thoughts and his concerns,

os seus pensamentos e as súas preocupacións;

a little boy who, when he gets upset,

un neno que, cando se anoxa,

will start rocking,

comeza a arrandearse

and eventually, when he's disturbed enough,

e, á fin, cando está moi enfadado,

will bang his head to the point

bate na cabeza ata o punto

that he can actually cut it open and require stitches.

de chegar a abrila e requirir puntos.

That same diagnosis of autism, though,

Aínda que esa mesma diagnose de autismo

also applies to Gabriel,

tamén se lle aplica a Gabriel,

another 13-year-old boy

outro rapaz de 13 anos

who has quite a different set of challenges.

que se enfronta a un tipo moi diferente de desafíos.

He's actually quite remarkably gifted in mathematics.

De feito, ten moito talento para as matemáticas.

He can multiple three numbers by three numbers

Pode multiplicar números de tres cifras entre si

in his head with ease,

mentalmente con facilidade.

yet when it comes to trying to have a conversation,

Porén, cando se trata de manter unha conversa,

he has great difficulty.

ten moitas dificultades.

He doesn't make eye contact.

Non establece contacto visual.

He has difficulty starting a conversation,

Cústalle iniciar unha conversa,

feels awkward,

séntese incómodo

and when he gets nervous,

e, cando se pon nervioso,

he actually shuts down.

péchase.

Yet both of these boys

No entanto, ambos os rapaces

have the same diagnosis of autism spectrum disorder.

teñen a mesma diagnose de trastorno do espectro autista.

One of the things that concerns us

Unha das cousas que nos preocupa

is whether or not there really is

é se de verdade hai

an epidemic of autism.

unha epidemia de autismo.

These days, one in 88 children

A día de hoxe, un de cada 88 nenos

will be diagnosed with autism,

vai ser diagnosticado de autismo

and the question is,

e a pregunta é:

why does this graph look this way?

por que esta gráfica é así?

Has that number been increasing

Será que o número foi medrando

dramatically over time?

drasticamente ao longo do tempo?

Or is it because we have now started labeling

Ou será que agora comezamos a etiquetar

individuals with autism,

persoas como autistas,

simply giving them a diagnosis

dándolles unha diagnose

when they were still present there before

pero xa estaban aí

yet simply didn't have that label?

aínda que sen ningunha etiqueta?

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

De feito, a finais dos anos 80, comezos dos 90,

legislation was passed

aprobouse unha lexislación

that actually provided individuals with autism

que lles proporcionaba ás persoas con autismo

with resources, with access to educational materials

recursos e acceso a materiais educativos

that would help them.

para axudalas.

With that increased awareness, more parents,

Con esa maior concienciación, máis nais e pais,

more pediatricians, more educators

máis pediatras, máis educadores

learned to recognize the features of autism.

aprenderon a recoñecer as características do autismo.

As a result of that, more individuals were diagnosed

En consecuencia, diagnosticáronse máis persoas

and got access to the resources they needed.

e tiveron acceso aos recursos que precisaban.

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

Ademais, co paso do tempo cambiamos a definición,

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

de feito, fixémola máis ampla

and that accounts for some of

e isto explica parte

the increased prevalence that we see.

do incremento que vemos.

The next question everyone wonders is,

A outra pregunta que todo o mundo fai é:

what caused autism?

que causa o autismo?

And a common misconception

E hai unha falsa crenza que di

is that vaccines cause autism.

que as vacinas causan autismo.

But let me be very clear:

Pero vou ser moi clara:

Vaccines do not cause autism.

as vacinas non causan autismo.

(Applause)

(Aplausos)

In fact, the original research study

De feito, o estudo inicial da investigación

that suggested that was the case

que suxería tal cousa

was completely fraudulent.

era unha completa fraude.

It was actually retracted from the journal Lancet,

En realidade, foi retirada da revista Lancet,

in which it was published,

onde se publicou,

and that author, a physician,

e ao autor, un médico,

had his medical license taken away from him.

quitáronlle a licenza médica.

(Applause)

(Aplausos)

The Institute of Medicine,

O Instituto de Medicina,

The Centers for Disease Control,

o Centro para o Control de Enfermidades,

have repeatedly investigated this

investigaron repetidamente

and there is no credible evidence

e non hai evidencia crible

that vaccines cause autism.

de que as vacinas causen autismo.

Furthermore,

Amais,

one of the ingredients in vaccines,

un dos ingredientes das vacinas,

something called thimerosal,

algo chamado tiomersal

was thought to be what the cause of autism was.

que se pensaba que era a causa do autismo,

That was actually removed from vaccines

foi retirado delas

in the year 1992,

no ano 1992

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

e, como podedes ver, non tivo ningún efecto

in what happened with the prevalence of autism.

no incremento do autismo.

So again, there is no evidence

Así que, repito, non hai ningunha evidencia

that this is the answer.

de que as vacinas sexan a resposta.

So the question remains, what does cause autism?

Así que a pregunta segue aí: que causa o autismo?

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

De feito, talvez non haxa unha única resposta.

Just as autism is a spectrum,

De igual xeito que o autismo é un espectro,

there's a spectrum of etiologies,

tamén hai un espectro de etioloxías,

a spectrum of causes.

un espectro de causas.

Based on epidemiological data,

Segundo os datos epidemiolóxicos,

we know that one of the causes,

sabemos que unha das causas

or one of the associations, I should say,

ou, mellor dito, unha das correlacións

is advanced paternal age,

é a idade paternal avanzada,

that is, increasing age of the father

isto é, o incremento da idade do pai

at the time of conception.

no momento da concepción.

In addition, another vulnerable

Ademais, outro período vulnerable

and critical period in terms of development

e crítico en termos de desenvolvemento

is when the mother is pregnant.

é cando a nai está embarazada.

During that period, while the fetal brain is developing,

Durante ese período, mentres o cerebro do feto se desenvolve,

we know that exposure to certain agents

sabemos que a exposición a certos axentes

can actually increase the risk of autism.

pode incrementar o risco de autismo.

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

En concreto, hai un medicamento, o ácido valproico

which mothers with epilepsy sometimes take,

que, ás veces, toman as nais con epilepsia

we know can increase that risk of autism.

e sabemos que pode aumentar o risco de autismo.

In addition, there can be some infectious agents

Tamén hai algúns axentes infecciosos

that can also cause autism.

que poden causar autismo.

And one of the things I'm going to spend

E unha das cousas

a lot of time focusing on

en que me vou centrar máis tempo

are the genes that can cause autism.

é nos xenes que poden causar o autismo.

I'm focusing on this not because genes

Céntrome nisto non porque

are the only cause of autism,

os xenes sexan a única causa do autismo,

but it's a cause of autism

senón porque é unha causa

that we can readily define

que podemos definir decontado

and be able to better understand the biology

e entender mellor a bioloxía

and understand better how the brain works

e entender mellor como funciona o cerebro,

so that we can come up with strategies

para dar con estratexias

to be able to intervene.

que nos permitan intervir.

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

Un dos factores xenéticos que non entendemos

however, is the difference that we see

é a diferenza que vemos

in terms of males and females.

entre homes e mulleres.

Males are affected four to one compared to females

Por cada catro homes afectados polo autismo

with autism,

hai unha muller.

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

E realmente non entendemos cal é a causa.

One of the ways that we can understand

Un dos xeitos de entendermos

that genetics is a factor

que a xenética é un factor

is by looking at something called

é fixándonos en algo chamado

the concordance rate.

a taxa de concordancia.

In other words, if one sibling has autism,

Noutras palabras, se un irmán ten autismo,

what's the probability

cal é a probabilidade de que outro irmán

that another sibling in that family will have autism?

nesa familia teña autismo?

And we can look in particular

Podemos analizar tres casos

at three types of siblings:

concretos de irmáns:

identical twins,

xemelgos univitelinos,

twins that actually share 100 percent

xemelgos que comparten o 100 %

of their genetic information

da información xenética

and shared the same intrauterine environment,

e compartiron o mesmo medio intrauterino,

versus fraternal twins,

fronte aos xemelgos bivitelinos,

twins that actually share 50 percent

xemelgos que comparten o 50 %

of their genetic information,

da información xenética,

versus regular siblings,

fronte a irmáns comúns,

brother-sister, sister-sister,

irmán-irmá, irmá-irmá,

also sharing 50 percent of their genetic information,

que tamén comparten o 50 % da información xenética

yet not sharing the same intrauterine environment.

pero non compartiron o mesmo medio intrauterino.

And when you look at those concordance ratios,

E, ao observarmos as taxas de concordancia,

one of the striking things that you will see

vemos algo abraiante:

is that in identical twins,

en xemelgos univitelinos,

that concordance rate is 77 percent.

a taxa de concordancia é do 77 %.

Remarkably, though,

Pero, sorprendentemente,

it's not 100 percent.

non é dun 100 %.

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

Non é que os xenes sexan os únicos responsables no risco de autismo

but yet they account for a lot of that risk,

mais contan moito nese risco

because when you look at fraternal twins,

porque, ao analizarmos xemelgos bivitelinos,

that concordance rate is only 31 percent.

esa taxa de concordancia é só do 31 %.

On the other hand, there is a difference

Por outra parte, hai unha diferenza

between those fraternal twins and the siblings,

entre os xemelgos bivitelinos e os simples irmáns

suggesting that there are common exposures

que suxire que hai cousas ás que se expoñen

for those fraternal twins

eses xemelgos bivitelinos

that may not be shared as commonly

que non son compartidas tan a miúdo

with siblings alone.

no caso de simples irmáns e irmás.

So this provides some of the data

Así que isto dános datos

that autism is genetic.

que proban que o autismo é xenético.

Well, how genetic is it?

Pero ata que punto é xenético?

When we compare it to other conditions

Ao comparármolo con outras patoloxías

that we're familiar with,

que nos son familiares

things like cancer, heart disease, diabetes,

como o cancro, enfermidades cardíacas, diabetes...,

in fact, genetics plays a much larger role in autism

vemos que a xenética xoga un papel moito máis importante

than it does in any of these other conditions.

no autismo que nesoutras patoloxías.

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

Pero todo isto non nos di que xenes son.

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

Nin sequera sabemos, no caso dun neno en concreto,

is it one gene

se é un xene

or potentially a combination of genes?

ou unha combinación de xenes.

And so in fact, in some individuals with autism,

E, de feito, no caso dalgunhas persoas con autismo,

it is genetic!

é xenético!

That is, that it is one single,

É dicir, un único xene,

powerful, deterministic gene

poderoso e determinista,

that causes the autism.

é o que causa o autismo.

However, in other individuals,

Pero, no caso doutras persoas,

it's genetic, that is,

é xenético, e isto significa

that it's actually a combination of genes

que é unha combinación de xenes

in part with the developmental process

xunto co proceso de desenvolvemento

that ultimately determines that risk for autism.

o que finalmente determina o risco de autismo.

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

Para unha persoa en particular, non sabemos con certeza

which of those two answers it is

cal das dúas opcións é a verdadeira

until we start digging deeper.

ata que comezamos a afondar.

So the question becomes,

Así que a pregunta é:

how can we start to identify

como podemos comezar a

what exactly those genes are.

identificar exactamente que xenes son?

And let me pose something

E vouvos dicir unha cousa

that might not be intuitive.

que talvez non sexa intuitiva.

In certain individuals,

Certas persoas

they can have autism

poden ter autismo

for a reason that is genetic

por unha razón xenética

but yet not because of autism running in the family.

pero non porque o autismo estea presente na familia.

And the reason is because in certain individuals,

E iso é porque algunhas persoas

they can actually have genetic changes or mutations

poden sufrir cambios ou mutacións xenéticas

that are not passed down from the mother

que non lles transmitiu a nai

or from the father,

nin o pai,

but actually start brand new in them,

senón que se estrearon nelas.

mutations that are present

As mutacións están presentes

in the egg or the sperm

no óvulo ou no espermatozoide

at the time of conception

no momento da concepción

but have not been passed down

pero non se transmitiron

generation through generation within the family.

xeración tras xeración na familia.

And we can actually use that strategy

E podemos usar esa estratexia

to now understand and to identify

para entender e identificar

those genes causing autism in those individuals.

os xenes que causaron o autismo nesas persoas.

So in fact, at the Simons Foundation,

De feito, na Fundación Simons,

we took 2,600 individuals

collemos 2 600 persoas

that had no family history of autism,

que non tiñan ningunha historia familiar de autismo

and we took that child and their mother and father

e collemos o neno, a nai e o pai

and used them to try and understand

e intentamos entender

what were those genes

cales foron os xenes

causing autism in those cases?

que causaron o autismo neses casos.

To do that, we actually had to comprehensively

Para facelo, tiñamos que

be able to look at all that genetic information

analizar toda a información xenética

and determine what those differences were

e determinar que diferenzas había

between the mother, the father and the child.

entre a nai, o pai e o fillo.

In doing so, I apologize,

Ao facérmolo, desculpade,

I'm going to use an outdated analogy

vou usar unha analoxía anticuada

of encyclopedias rather than Wikipedia,

sobre enciclopedias en lugar de recorrer á Wikipedia,

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

pero vou facelo para intentar amosarvos que,

that as we did this inventory,

cando fixemos ese inventario,

we needed to be able to look at

precisabamos analizar

massive amounts of information.

cantidades enormes de información.

Our genetic information is organized

A nosa información xenética está organizada

into a set of 46 volumes,

nunha colección de 46 volumes

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

e cando o fixemos, tivemos que considerar

for each of those 46 volumes,

cada un deses 46 volumes

because in some cases with autism,

porque, nalgúns casos de autismo,

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

só falta un volume.

We had to get more granular than that, though,

Porén, tiñamos que ser aínda máis minuciosos.

and so we had to start opening those books,

Houbo que comezar a abrir os libros.

and in some cases, the genetic change

E, nalgúns casos, o cambio xenético

was more subtle.

era máis sutil,

It might have been a single paragraph that was missing,

podería ser un simple parágrafo o que faltaba

or yet, even more subtle than that,

ou mesmo aínda máis sutil ca iso,

a single letter,

unha simple letra,

one out of three billion letters

unha entre tres millóns de letras

that was changed, that was altered,

que mudou, que se alterou,

yet had profound effects

pero causou un profundo efecto

in terms of how the brain functions

no funcionamento do cerebro

and affects behavior.

e no comportamento.

In doing this within these families,

Ao facelo así, nestas familias,

we were able to account for approximately

puidemos determinar que, para aproximadamente

25 percent of the individuals

o 25 % das persoas,

and determine that there was a single

había un factor xenético

powerful genetic factor

poderoso

that caused autism within those families.

que causaba o autismo nesas familias.

On the other hand, there's 75 percent

Por outra parte, hai un 75 % que

that we still haven't figured out.

aínda non comprendemos.

As we did this, though,

Mais, facermos isto

it was really quite humbling,

deunos unha lección

because we realized that there was not simply

porque nos decatamos de que non había

one gene for autism.

un único xene para o autismo.

In fact, the current estimates are

De feito, os cálculos actuais din

that there are 200 to 400 different genes

que hai de 200 a 400 xenes diferentes

that can cause autism.

que poden causar autismo.

And that explains, in part,

E isto explica, en parte,

why we see such a broad spectrum

por que vemos un espectro tan amplo

in terms of its effects.

en canto aos seus efectos.

Although there are that many genes,

Malia existiren todos eses xenes,

there is some method to the madness.

hai algo de orde no caos.

It's not simply random

Non son simplemente

200, 400 different genes,

200, 400 xenes aleatorios diferentes

but in fact they fit together.

senón que, de feito, encaixan.

They fit together in a pathway.

Encaixan nun camiño.

They fit together in a network

Encaixan nunha rede

that's starting to make sense now

que comeza a ter sentido agora

in terms of how the brain functions.

en canto ao funcionamento do cerebro.

We're starting to have a bottom-up approach

Estamos comezando a facer unha aproximación desde abaixo

where we're identifying those genes,

ao identificarmos eses xenes,

those proteins, those molecules,

esas proteínas, esas moléculas,

understanding how they interact together

entendendo como interactúan entre si

to make that neuron work,

para facer funcionar as neuronas,

understanding how those neurons interact together

entendendo como esas neuronas interactúan

para facer funcionar os circuítos

to make circuits work,

and understand how those circuits work

e entender como eses circuítos funcionan

to now control behavior,

á hora de controlar o comportamento.

and understand that both in individuals with autism

E entender isto tanto en persoas con autismo

as well as individuals who have normal cognition.

como en persoas con cognición normal.

But early diagnosis is a key for us.

Pero a diagnose temperá é esencial para nós.

Being able to make that diagnosis

Sermos capaces de facer esa diagnose

of someone who's susceptible

en alguén que é vulnerable

at a time in a window

nun curto espazo de tempo

where we have the ability to transform,

en que temos a capacidade de transformar,

to be able to impact

de producir un efecto

that growing, developing brain is critical.

nese cerebro que medra e se desenvolve, é crucial.

And so folks like Ami Klin have developed methods

Por iso, xente como Ami Klin desenvolveu métodos

to be able to take infants, small babies,

para poder coller nenos, bebés,

and be able to use biomarkers,

e usar biomarcadores,

in this case eye contact and eye tracking,

neste caso, o contacto visual e o seguimento ocular,

to identify an infant at risk.

para identificar un neno en risco.

This particular infant, you can see,

Este neno en concreto, como podedes ver,

making very good eye contact with this woman

fai moi bo contacto visual con esa muller

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

mentres ela canta "Itsy, Bitsy Spider",

in fact is not going to develop autism.

de feito, non vai desenvolver autismo;

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

este bebé sabemos que está fóra de perigo.

On the other hand, this other baby

Pola contra, estoutro bebé

is going to go on to develop autism.

vai desenvolver autismo.

In this particular child, you can see,

Este bebé en concreto, podedes ver

it's not making good eye contact.

que non fai un bo contacto visual.

Instead of the eyes focusing in

En lugar de fixar os ollos e

and having that social connection,

ter esa conexión social,

looking at the mouth, looking at the nose,

mira a boca, mira o nariz,

looking off in another direction,

mira noutra dirección

but not again socially connecting,

pero, unha vez máis, sen conectar socialmente.

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

E sermos capaces de facer isto a grande escala,

screen infants, screen children for autism,

examinando bebés e nenos con autismo,

through something very robust, very reliable,

a través de algo moi rexo, moi fiable,

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

será de moita axuda para conseguir

able to intervene at an early stage

intervir nunha etapa temperá

when we can have the greatest impact.

en que poidamos ter o maior efecto.

How are we going to intervene?

Como imos intervir?

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

Probablemente será unha combinación de factores.

In part, in some individuals,

Por unha parte, con algunhas persoas

we're going to try and use medications.

intentaremos usar medicamentos.

And so in fact, identifying the genes for autism

Por iso, identificar os xenes do autismo

is important for us

é importante para nós

to identify drug targets,

para identificarmos o albo dos fármacos,

to identify things that we might be able to impact

para identificarmos aquilo en que poidamos producir un cambio

and can be certain that that's really

tendo a certeza de que iso é realmente

what we need to do in autism.

o que precisamos facer co autismo.

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

Pero esa non vai ser a única resposta.

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

Ademais dos fármacos, imos usar estratexias educativas.

Individuals with autism,

Hai persoas autistas

some of them are wired a little bit differently.

que teñen unha conexión un pouco diferente.

They learn in a different way.

Aprenden dunha forma diferente.

They absorb their surroundings in a different way,

Absorben o seu contorno nun xeito diferente

and we need to be able to educate them

e precisamos ser quen de educalos

in a way that serves them best.

da forma que lles resulte mellor.

Beyond that, there are a lot of individuals

Por outra parte, hai un montón de persoas

in this room who have great ideas

nesta sala que teñen grandes ideas

in terms of new technologies we can use,

sobre as novas tecnoloxías que poderiamos usar,

everything from devices we can use to train the brain

desde dispositivos que podemos usar para adestrar o cerebro

to be able to make it more efficient

para facelo máis eficiente

and to compensate for areas in which

e compensar áreas en que

it has a little bit of trouble,

existan dificultades,

to even things like Google Glass.

ata cousas como Google Glass.

You could imagine, for instance, Gabriel,

Podedes imaxinar, por exemplo, que Gabriel,

with his social awkwardness,

coa súa torpeza social,

might be able to wear Google Glass

puidese levar Google Glass

with an earpiece in his ear,

cun auricular no oído

and have a coach be able to help him,

e que un adestrador puidese axudalo

be able to help think about conversations,

a pensar sobre conversas,

conversation-starters,

comezos de conversas,

being able to even perhaps one day

e mesmo quizais un día podería

invite a girl out on a date.

convidar unha rapaza a unha cita.

All of these new technologies

Todas estas novas tecnoloxías

just offer tremendous opportunities

ofrecen oportunidades colosais

for us to be able to impact

para poder producir un cambio

the individuals with autism,

nas persoas con autismo,

but yet we have a long way to go.

pero aínda temos un longo camiño por diante.

As much as we know,

Mesmo sabendo tanto,

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

hai moito máis que aínda non sabemos

and so I invite all of you

e, por iso, convídovos a todos

to be able to help us think about

a axudarnos a pensar

how to do this better,

como mellorar o que facemos,

to use as a community our collective wisdom

para utilizar a nosa sabedoría colectiva en comunidade

to be able to make a difference,

e conseguir avanzar

and in particular,

e, en particular,

for the individuals in families with autism,

ás persoas en cuxa familia haxa autismo,

I invite you to join the interactive autism network,

convídovos a unirvos á rede interactiva do autismo

to be part of the solution to this,

para ser parte da solución,

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

porque son necesarias moitas contribucións

to think about what's important,

para pensar no que é importante,

what's going to be a meaningful difference.

no que representará un avance significativo.

As we think about something

Cando pensemos en algo

that's potentially a solution,

que podería ser unha solución,

how well does it work?

vai funcionar ben?

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

É algo que, de verdade, vai xerar un cambio

in your lives, as an individual,

nas vosas vidas, como persoas,

as a family with autism?

como familias con autismo?

We're going to need individuals of all ages,

Imos precisar persoas de todas as idades,

from the young to the old,

das máis novas ás máis vellas

and with all different shapes and sizes

e de todas as formas e talles

of the autism spectrum disorder

con trastorno do espectro autista

to make sure that we can have an impact.

para ter a certeza de podermos provocar un cambio.

So I invite all of you to join the mission

Así que vos convido a unirvos á misión

and to help to be able to make the lives

e axudarnos a conseguir que as vidas

of individuals with autism

das persoas con autismo

so much better and so much richer.

sexan moito mellores e máis ricas.

Thank you.

Grazas.

(Aplausos)

(Applause)