TED2014
Wendy Chung: Autism — what we know (and what we don't know yet)
Wendy Chung: Autismo, o que sabemos (e o que aínda non sabemos)
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Nesta charla baseada en feitos, a xenetista Wendy Chung comparte o que se sabe sobre os trastornos do espectro autista, por exemplo, que o autismo ten múltiples causas, probablemente entretecidas. Alén da ansiedade e a preocupación que envolve a diagnose, Chung e o seu equipo analizan o que levamos aprendido coa investigación, os tratamentos e a escoita atenta.
Wendy Chung - Geneticist
At the Simons Foundation, Wendy Chung is working to characterize behavior, brain structure and function in people with genetic variations that may relate to autism. Full bio
At the Simons Foundation, Wendy Chung is working to characterize behavior, brain structure and function in people with genetic variations that may relate to autism. Full bio
Double-click the English transcript below to play the video.
"Por que?"
00:12
"Why?"
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00:14
"Why?" is a question
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"Por que?" é unha pregunta
00:15
that parents ask me all the time.
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que os pais me fan deseguido.
00:18
"Why did my child develop autism?"
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"Por que o meu fillo ten autismo?"
00:21
As a pediatrician, as a geneticist, as a researcher,
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Os pediatras, os xenetistas,
os investigadores
os investigadores
00:25
we try and address that question.
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intentamos atopar a resposta
a esa pregunta.
a esa pregunta.
Mais o autismo non é
unha patoloxía única.
unha patoloxía única.
00:28
But autism is not a single condition.
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00:30
It's actually a spectrum of disorders,
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En realidade, é un espectro de trastornos,
00:32
a spectrum that ranges, for instance,
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un espectro que abrangue,
por exemplo,
por exemplo,
00:35
from Justin, a 13-year-old boy
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a Justin, un rapaz de 13 anos
00:37
who's not verbal, who can't speak,
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que non usa palabras,
que non fala,
que non fala,
00:41
who communicates by using an iPad
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que se comunica cun iPad
00:43
to touch pictures to communicate
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tocando as imaxes para comunicar
00:45
his thoughts and his concerns,
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os seus pensamentos e
as súas preocupacións;
as súas preocupacións;
00:47
a little boy who, when he gets upset,
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un neno que, cando se anoxa,
00:49
will start rocking,
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comeza a arrandearse
e, á fin, cando está moi enfadado,
00:51
and eventually, when he's disturbed enough,
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00:52
will bang his head to the point
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bate na cabeza ata o punto
00:54
that he can actually cut it open and require stitches.
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de chegar a abrila e requirir puntos.
00:58
That same diagnosis of autism, though,
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Aínda que esa mesma
diagnose de autismo
diagnose de autismo
01:00
also applies to Gabriel,
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tamén se lle aplica a Gabriel,
01:02
another 13-year-old boy
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outro rapaz de 13 anos
01:04
who has quite a different set of challenges.
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que se enfronta a un tipo
moi diferente de desafíos.
moi diferente de desafíos.
01:07
He's actually quite remarkably gifted in mathematics.
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De feito, ten moito talento
para as matemáticas.
para as matemáticas.
01:10
He can multiple three numbers by three numbers
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Pode multiplicar números
de tres cifras entre si
de tres cifras entre si
01:12
in his head with ease,
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mentalmente con facilidade.
01:14
yet when it comes to trying to have a conversation,
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Porén, cando se trata de
manter unha conversa,
manter unha conversa,
01:18
he has great difficulty.
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ten moitas dificultades.
01:20
He doesn't make eye contact.
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Non establece contacto visual.
01:22
He has difficulty starting a conversation,
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Cústalle iniciar unha conversa,
01:24
feels awkward,
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séntese incómodo
01:26
and when he gets nervous,
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e, cando se pon nervioso,
01:27
he actually shuts down.
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péchase.
01:29
Yet both of these boys
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No entanto, ambos os rapaces
01:31
have the same diagnosis of
autism spectrum disorder.
autism spectrum disorder.
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teñen a mesma diagnose
de trastorno do espectro autista.
de trastorno do espectro autista.
01:35
One of the things that concerns us
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Unha das cousas que nos preocupa
01:37
is whether or not there really is
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é se de verdade hai
01:39
an epidemic of autism.
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unha epidemia de autismo.
01:41
These days, one in 88 children
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A día de hoxe, un de cada 88 nenos
01:43
will be diagnosed with autism,
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vai ser diagnosticado de autismo
01:45
and the question is,
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e a pregunta é:
01:47
why does this graph look this way?
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por que esta gráfica é así?
01:49
Has that number been increasing
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Será que o número
foi medrando
foi medrando
01:51
dramatically over time?
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drasticamente
ao longo do tempo?
ao longo do tempo?
01:53
Or is it because we have now started labeling
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Ou será que agora
comezamos a etiquetar
comezamos a etiquetar
01:57
individuals with autism,
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persoas como autistas,
01:59
simply giving them a diagnosis
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dándolles unha diagnose
02:01
when they were still present there before
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pero xa estaban aí
02:04
yet simply didn't have that label?
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aínda que sen ningunha etiqueta?
02:06
And in fact, in the late 1980s, the early 1990s,
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De feito, a finais dos anos 80,
comezos dos 90,
comezos dos 90,
02:10
legislation was passed
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aprobouse unha lexislación
02:11
that actually provided individuals with autism
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que lles proporcionaba
ás persoas con autismo
ás persoas con autismo
02:14
with resources, with access to educational materials
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recursos e acceso a
materiais educativos
materiais educativos
02:18
that would help them.
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para axudalas.
Con esa maior concienciación,
máis nais e pais,
máis nais e pais,
02:20
With that increased awareness, more parents,
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02:23
more pediatricians, more educators
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máis pediatras, máis educadores
02:26
learned to recognize the features of autism.
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aprenderon a recoñecer
as características do autismo.
as características do autismo.
02:29
As a result of that, more individuals were diagnosed
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En consecuencia, diagnosticáronse
máis persoas
máis persoas
02:33
and got access to the resources they needed.
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e tiveron acceso aos
recursos que precisaban.
recursos que precisaban.
02:36
In addition, we've changed our definition over time,
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Ademais, co paso do tempo
cambiamos a definición,
cambiamos a definición,
02:40
so in fact we've widened the definition of autism,
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de feito, fixémola máis ampla
02:43
and that accounts for some of
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e isto explica parte
02:44
the increased prevalence that we see.
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do incremento que vemos.
02:47
The next question everyone wonders is,
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A outra pregunta que
todo o mundo fai é:
todo o mundo fai é:
02:50
what caused autism?
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que causa o autismo?
02:51
And a common misconception
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E hai unha falsa crenza que di
02:54
is that vaccines cause autism.
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que as vacinas causan autismo.
02:57
But let me be very clear:
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Pero vou ser moi clara:
03:00
Vaccines do not cause autism.
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as vacinas non causan autismo.
03:05
(Applause)
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(Aplausos)
03:11
In fact, the original research study
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De feito, o estudo inicial
da investigación
da investigación
03:13
that suggested that was the case
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que suxería tal cousa
03:15
was completely fraudulent.
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era unha completa fraude.
03:18
It was actually retracted from the journal Lancet,
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En realidade, foi retirada
da revista Lancet,
da revista Lancet,
03:21
in which it was published,
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onde se publicou,
03:23
and that author, a physician,
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e ao autor, un médico,
03:25
had his medical license taken away from him.
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quitáronlle a licenza médica.
03:28
(Applause)
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(Aplausos)
03:32
The Institute of Medicine,
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O Instituto de Medicina,
o Centro para o Control de Enfermidades,
03:34
The Centers for Disease Control,
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03:35
have repeatedly investigated this
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investigaron repetidamente
03:38
and there is no credible evidence
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e non hai evidencia crible
03:41
that vaccines cause autism.
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de que as vacinas causen autismo.
03:44
Furthermore,
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Amais,
03:46
one of the ingredients in vaccines,
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un dos ingredientes das vacinas,
03:48
something called thimerosal,
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algo chamado tiomersal
03:50
was thought to be what the cause of autism was.
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que se pensaba que era
a causa do autismo,
a causa do autismo,
03:53
That was actually removed from vaccines
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foi retirado delas
03:56
in the year 1992,
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no ano 1992
03:57
and you can see that it really did not have an effect
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e, como podedes ver,
non tivo ningún efecto
non tivo ningún efecto
04:00
in what happened with the prevalence of autism.
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no incremento
do autismo.
do autismo.
Así que, repito,
non hai ningunha evidencia
non hai ningunha evidencia
04:03
So again, there is no evidence
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04:05
that this is the answer.
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de que as vacinas
sexan a resposta.
sexan a resposta.
04:07
So the question remains, what does cause autism?
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Así que a pregunta segue aí:
que causa o autismo?
que causa o autismo?
04:11
In fact, there's probably not one single answer.
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De feito, talvez non
haxa unha única resposta.
haxa unha única resposta.
De igual xeito que
o autismo é un espectro,
o autismo é un espectro,
04:14
Just as autism is a spectrum,
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04:16
there's a spectrum of etiologies,
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tamén hai un espectro
de etioloxías,
de etioloxías,
04:18
a spectrum of causes.
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un espectro de causas.
04:19
Based on epidemiological data,
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Segundo os datos epidemiolóxicos,
04:21
we know that one of the causes,
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sabemos que unha das causas
04:23
or one of the associations, I should say,
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ou, mellor dito,
unha das correlacións
unha das correlacións
04:25
is advanced paternal age,
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é a idade paternal avanzada,
04:28
that is, increasing age of the father
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isto é, o incremento da idade do pai
04:30
at the time of conception.
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no momento da concepción.
Ademais, outro período vulnerable
04:32
In addition, another vulnerable
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04:34
and critical period in terms of development
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e crítico en termos de
desenvolvemento
desenvolvemento
04:37
is when the mother is pregnant.
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é cando a nai está embarazada.
04:39
During that period, while
the fetal brain is developing,
the fetal brain is developing,
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Durante ese período, mentres o
cerebro do feto se desenvolve,
cerebro do feto se desenvolve,
04:42
we know that exposure to certain agents
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sabemos que a exposición
a certos axentes
a certos axentes
04:43
can actually increase the risk of autism.
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pode incrementar
o risco de autismo.
o risco de autismo.
04:47
In particular, there's a medication, valproic acid,
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En concreto, hai un medicamento,
o ácido valproico
o ácido valproico
04:49
which mothers with epilepsy sometimes take,
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que, ás veces, toman
as nais con epilepsia
as nais con epilepsia
04:52
we know can increase that risk of autism.
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e sabemos que pode aumentar
o risco de autismo.
o risco de autismo.
04:56
In addition, there can be some infectious agents
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Tamén hai algúns
axentes infecciosos
axentes infecciosos
04:58
that can also cause autism.
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que poden causar autismo.
05:01
And one of the things I'm going to spend
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E unha das cousas
05:02
a lot of time focusing on
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en que me vou centrar
máis tempo
máis tempo
05:05
are the genes that can cause autism.
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é nos xenes que
poden causar o autismo.
poden causar o autismo.
05:07
I'm focusing on this not because genes
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Céntrome nisto non porque
05:10
are the only cause of autism,
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os xenes sexan a única
causa do autismo,
causa do autismo,
05:12
but it's a cause of autism
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senón porque é
unha causa
unha causa
05:13
that we can readily define
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que podemos definir decontado
05:15
and be able to better understand the biology
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e entender mellor a bioloxía
05:18
and understand better how the brain works
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e entender mellor
como funciona o cerebro,
como funciona o cerebro,
05:20
so that we can come up with strategies
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para dar con estratexias
05:22
to be able to intervene.
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que nos permitan intervir.
05:25
One of the genetic factors that we don't understand,
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Un dos factores xenéticos
que non entendemos
que non entendemos
05:27
however, is the difference that we see
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é a diferenza que vemos
05:31
in terms of males and females.
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entre homes e mulleres.
05:33
Males are affected four to one compared to females
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Por cada catro homes afectados
polo autismo
polo autismo
05:36
with autism,
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hai unha muller.
05:37
and we really don't understand what that cause is.
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E realmente non entendemos
cal é a causa.
cal é a causa.
05:41
One of the ways that we can understand
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Un dos xeitos de entendermos
05:42
that genetics is a factor
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que a xenética é un factor
05:44
is by looking at something called
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é fixándonos en algo chamado
05:46
the concordance rate.
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a taxa de concordancia.
05:47
In other words, if one sibling has autism,
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Noutras palabras, se
un irmán ten autismo,
un irmán ten autismo,
05:51
what's the probability
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cal é a probabilidade
de que outro irmán
de que outro irmán
05:52
that another sibling in that family will have autism?
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nesa familia teña autismo?
05:55
And we can look in particular
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Podemos analizar tres casos
05:57
at three types of siblings:
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concretos de irmáns:
05:59
identical twins,
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xemelgos univitelinos,
06:01
twins that actually share 100 percent
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xemelgos que comparten
o 100 %
o 100 %
06:03
of their genetic information
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da información xenética
06:05
and shared the same intrauterine environment,
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e compartiron o mesmo
medio intrauterino,
medio intrauterino,
06:08
versus fraternal twins,
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fronte aos xemelgos bivitelinos,
06:10
twins that actually share 50 percent
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xemelgos que comparten
o 50 %
o 50 %
06:12
of their genetic information,
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da información xenética,
06:14
versus regular siblings,
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fronte a irmáns comúns,
06:15
brother-sister, sister-sister,
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irmán-irmá, irmá-irmá,
06:17
also sharing 50 percent of their genetic information,
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que tamén comparten o 50 %
da información xenética
da información xenética
06:20
yet not sharing the same intrauterine environment.
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pero non compartiron o
mesmo medio intrauterino.
mesmo medio intrauterino.
06:23
And when you look at those concordance ratios,
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E, ao observarmos as
taxas de concordancia,
taxas de concordancia,
06:25
one of the striking things that you will see
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vemos algo abraiante:
06:27
is that in identical twins,
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en xemelgos univitelinos,
06:30
that concordance rate is 77 percent.
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a taxa de concordancia é do 77 %.
06:33
Remarkably, though,
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Pero, sorprendentemente,
06:34
it's not 100 percent.
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non é dun 100 %.
06:36
It is not that genes account
for all of the risk for autism,
for all of the risk for autism,
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Non é que os xenes sexan os únicos
responsables no risco de autismo
responsables no risco de autismo
06:40
but yet they account for a lot of that risk,
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mais contan moito nese risco
06:42
because when you look at fraternal twins,
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porque, ao analizarmos
xemelgos bivitelinos,
xemelgos bivitelinos,
06:45
that concordance rate is only 31 percent.
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esa taxa de concordancia é só do 31 %.
06:48
On the other hand, there is a difference
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Por outra parte, hai unha diferenza
06:50
between those fraternal twins and the siblings,
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entre os xemelgos bivitelinos
e os simples irmáns
e os simples irmáns
06:53
suggesting that there are common exposures
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que suxire que hai cousas
ás que se expoñen
ás que se expoñen
06:55
for those fraternal twins
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eses xemelgos bivitelinos
06:57
that may not be shared as commonly
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que non son compartidas
tan a miúdo
tan a miúdo
06:59
with siblings alone.
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no caso de simples irmáns e irmás.
07:01
So this provides some of the data
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Así que isto dános datos
07:03
that autism is genetic.
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que proban que
o autismo é xenético.
o autismo é xenético.
07:04
Well, how genetic is it?
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Pero ata que punto é xenético?
07:06
When we compare it to other conditions
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Ao comparármolo
con outras patoloxías
con outras patoloxías
07:08
that we're familiar with,
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que nos son familiares
07:10
things like cancer, heart disease, diabetes,
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como o cancro, enfermidades
cardíacas, diabetes...,
cardíacas, diabetes...,
07:14
in fact, genetics plays a much larger role in autism
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vemos que a xenética xoga un
papel moito máis importante
papel moito máis importante
07:18
than it does in any of these other conditions.
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no autismo que
nesoutras patoloxías.
nesoutras patoloxías.
07:20
But with this, that doesn't
tell us what the genes are.
tell us what the genes are.
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Pero todo isto non nos
di que xenes son.
di que xenes son.
07:23
It doesn't even tell us in any one child,
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Nin sequera sabemos,
no caso dun neno en concreto,
no caso dun neno en concreto,
07:26
is it one gene
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se é un xene
07:28
or potentially a combination of genes?
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ou unha combinación de xenes.
07:30
And so in fact, in some individuals with autism,
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E, de feito, no caso dalgunhas
persoas con autismo,
persoas con autismo,
07:33
it is genetic!
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é xenético!
07:36
That is, that it is one single,
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É dicir, un único xene,
07:38
powerful, deterministic gene
183
446694
2172
poderoso e determinista,
07:40
that causes the autism.
184
448866
1847
é o que causa o autismo.
07:42
However, in other individuals,
185
450713
1794
Pero, no caso doutras persoas,
07:44
it's genetic, that is,
186
452507
1706
é xenético, e isto significa
07:46
that it's actually a combination of genes
187
454213
3120
que é unha combinación de xenes
07:49
in part with the developmental process
188
457333
2795
xunto co proceso
de desenvolvemento
de desenvolvemento
07:52
that ultimately determines that risk for autism.
189
460128
3380
o que finalmente determina
o risco de autismo.
o risco de autismo.
07:55
We don't know in any one person, necessarily,
190
463508
2870
Para unha persoa en particular,
non sabemos con certeza
non sabemos con certeza
07:58
which of those two answers it is
191
466378
2093
cal das dúas opcións
é a verdadeira
é a verdadeira
08:00
until we start digging deeper.
192
468471
2041
ata que comezamos a afondar.
08:02
So the question becomes,
193
470512
1287
Así que a pregunta é:
08:03
how can we start to identify
194
471799
2241
como podemos comezar a
08:06
what exactly those genes are.
195
474040
1872
identificar exactamente
que xenes son?
que xenes son?
08:07
And let me pose something
196
475912
1109
E vouvos dicir unha cousa
08:09
that might not be intuitive.
197
477021
2190
que talvez non sexa intuitiva.
08:11
In certain individuals,
198
479211
2359
Certas persoas
08:13
they can have autism
199
481570
1724
poden ter autismo
08:15
for a reason that is genetic
200
483294
2453
por unha razón xenética
08:17
but yet not because of autism running in the family.
201
485747
3564
pero non porque o autismo
estea presente na familia.
estea presente na familia.
08:21
And the reason is because in certain individuals,
202
489311
2379
E iso é porque algunhas persoas
08:23
they can actually have genetic changes or mutations
203
491690
3061
poden sufrir cambios
ou mutacións xenéticas
ou mutacións xenéticas
08:26
that are not passed down from the mother
204
494751
3043
que non lles transmitiu a nai
08:29
or from the father,
205
497794
1487
nin o pai,
08:31
but actually start brand new in them,
206
499281
2733
senón que se estrearon nelas.
08:34
mutations that are present
207
502014
1587
As mutacións están presentes
08:35
in the egg or the sperm
208
503601
1403
no óvulo ou no espermatozoide
08:37
at the time of conception
209
505004
1613
no momento da concepción
08:38
but have not been passed down
210
506617
1742
pero non se transmitiron
08:40
generation through generation within the family.
211
508359
3006
xeración tras xeración na familia.
08:43
And we can actually use that strategy
212
511365
2181
E podemos usar esa estratexia
08:45
to now understand and to identify
213
513546
2334
para entender e identificar
08:47
those genes causing autism in those individuals.
214
515880
3100
os xenes que causaron
o autismo nesas persoas.
o autismo nesas persoas.
08:50
So in fact, at the Simons Foundation,
215
518980
2010
De feito, na Fundación Simons,
08:52
we took 2,600 individuals
216
520990
2726
collemos 2 600 persoas
08:55
that had no family history of autism,
217
523716
2711
que non tiñan ningunha
historia familiar de autismo
historia familiar de autismo
08:58
and we took that child and their mother and father
218
526427
3170
e collemos o neno, a nai e o pai
09:01
and used them to try and understand
219
529597
2471
e intentamos entender
09:04
what were those genes
220
532068
1619
cales foron os xenes
09:05
causing autism in those cases?
221
533687
2318
que causaron o autismo
neses casos.
neses casos.
09:08
To do that, we actually had to comprehensively
222
536005
3067
Para facelo, tiñamos que
09:11
be able to look at all that genetic information
223
539072
2730
analizar toda
a información xenética
a información xenética
09:13
and determine what those differences were
224
541802
2182
e determinar que
diferenzas había
diferenzas había
09:15
between the mother, the father and the child.
225
543984
3701
entre a nai, o pai e o fillo.
09:19
In doing so, I apologize,
226
547685
1954
Ao facérmolo, desculpade,
09:21
I'm going to use an outdated analogy
227
549639
1884
vou usar unha analoxía anticuada
09:23
of encyclopedias rather than Wikipedia,
228
551523
2658
sobre enciclopedias
en lugar de recorrer á Wikipedia,
en lugar de recorrer á Wikipedia,
09:26
but I'm going to do so to try and help make the point
229
554181
2999
pero vou facelo para
intentar amosarvos que,
intentar amosarvos que,
09:29
that as we did this inventory,
230
557180
2358
cando fixemos ese inventario,
09:31
we needed to be able to look at
231
559538
1593
precisabamos analizar
09:33
massive amounts of information.
232
561131
2173
cantidades enormes de información.
09:35
Our genetic information is organized
233
563304
2287
A nosa información xenética
está organizada
está organizada
09:37
into a set of 46 volumes,
234
565591
2887
nunha colección de 46 volumes
09:40
and when we did that, we had to be able to account
235
568478
1909
e cando o fixemos,
tivemos que considerar
tivemos que considerar
09:42
for each of those 46 volumes,
236
570387
1984
cada un deses 46 volumes
09:44
because in some cases with autism,
237
572371
1853
porque, nalgúns casos de autismo,
09:46
there's actually a single volume that's missing.
238
574224
2456
só falta un volume.
09:48
We had to get more granular than that, though,
239
576680
2310
Porén, tiñamos que ser
aínda máis minuciosos.
aínda máis minuciosos.
09:50
and so we had to start opening those books,
240
578990
2320
Houbo que comezar a abrir os libros.
09:53
and in some cases, the genetic change
241
581310
1880
E, nalgúns casos, o cambio xenético
09:55
was more subtle.
242
583190
1388
era máis sutil,
09:56
It might have been a single
paragraph that was missing,
paragraph that was missing,
243
584578
3186
podería ser un simple
parágrafo o que faltaba
parágrafo o que faltaba
09:59
or yet, even more subtle than that,
244
587764
3278
ou mesmo aínda máis sutil ca iso,
10:03
a single letter,
245
591042
1692
unha simple letra,
10:04
one out of three billion letters
246
592734
2802
unha entre tres
millóns de letras
millóns de letras
10:07
that was changed, that was altered,
247
595536
2274
que mudou, que se alterou,
10:09
yet had profound effects
248
597810
1597
pero causou un
profundo efecto
profundo efecto
10:11
in terms of how the brain functions
249
599407
1913
no funcionamento
do cerebro
do cerebro
10:13
and affects behavior.
250
601320
1817
e no comportamento.
10:15
In doing this within these families,
251
603137
2377
Ao facelo así, nestas familias,
10:17
we were able to account for approximately
252
605514
2318
puidemos determinar que, para
aproximadamente
aproximadamente
10:19
25 percent of the individuals
253
607832
2325
o 25 % das persoas,
10:22
and determine that there was a single
254
610157
2547
había un factor xenético
10:24
powerful genetic factor
255
612704
2196
poderoso
10:26
that caused autism within those families.
256
614900
3124
que causaba o autismo nesas familias.
10:30
On the other hand, there's 75 percent
257
618024
2252
Por outra parte, hai un 75 % que
10:32
that we still haven't figured out.
258
620276
2451
aínda non comprendemos.
10:34
As we did this, though,
259
622727
1470
Mais, facermos isto
10:36
it was really quite humbling,
260
624197
2094
deunos unha lección
10:38
because we realized that there was not simply
261
626291
2365
porque nos decatamos
de que non había
de que non había
10:40
one gene for autism.
262
628656
1941
un único xene para o autismo.
10:42
In fact, the current estimates are
263
630597
1749
De feito, os cálculos actuais din
10:44
that there are 200 to 400 different genes
264
632346
2752
que hai de 200 a
400 xenes diferentes
400 xenes diferentes
10:47
that can cause autism.
265
635098
1892
que poden causar autismo.
10:48
And that explains, in part,
266
636990
1369
E isto explica, en parte,
10:50
why we see such a broad spectrum
267
638359
2117
por que vemos un
espectro tan amplo
espectro tan amplo
10:52
in terms of its effects.
268
640476
2043
en canto aos seus efectos.
10:54
Although there are that many genes,
269
642519
2225
Malia existiren todos eses xenes,
10:56
there is some method to the madness.
270
644744
2348
hai algo de orde no caos.
10:59
It's not simply random
271
647092
1948
Non son simplemente
11:01
200, 400 different genes,
272
649040
2230
200, 400 xenes aleatorios diferentes
11:03
but in fact they fit together.
273
651270
1794
senón que, de feito, encaixan.
11:05
They fit together in a pathway.
274
653064
1866
Encaixan nun camiño.
11:06
They fit together in a network
275
654930
1472
Encaixan nunha rede
11:08
that's starting to make sense now
276
656402
1832
que comeza a ter sentido agora
11:10
in terms of how the brain functions.
277
658234
2698
en canto ao funcionamento do cerebro.
Estamos comezando a facer unha
aproximación desde abaixo
aproximación desde abaixo
11:12
We're starting to have a bottom-up approach
278
660932
2146
11:15
where we're identifying those genes,
279
663078
1709
ao identificarmos eses xenes,
11:16
those proteins, those molecules,
280
664787
2478
esas proteínas, esas moléculas,
11:19
understanding how they interact together
281
667265
1910
entendendo como
interactúan entre si
interactúan entre si
11:21
to make that neuron work,
282
669175
1397
para facer funcionar
as neuronas,
as neuronas,
11:22
understanding how those neurons interact together
283
670572
2737
entendendo como esas neuronas interactúan
para facer funcionar os circuítos
11:25
to make circuits work,
284
673309
1219
11:26
and understand how those circuits work
285
674528
2016
e entender como eses circuítos funcionan
11:28
to now control behavior,
286
676544
1826
á hora de controlar
o comportamento.
o comportamento.
11:30
and understand that both in individuals with autism
287
678370
2800
E entender isto tanto
en persoas con autismo
en persoas con autismo
11:33
as well as individuals who have normal cognition.
288
681170
3901
como en persoas
con cognición normal.
con cognición normal.
11:37
But early diagnosis is a key for us.
289
685071
2458
Pero a diagnose temperá
é esencial para nós.
é esencial para nós.
11:39
Being able to make that diagnosis
290
687529
1959
Sermos capaces de
facer esa diagnose
facer esa diagnose
11:41
of someone who's susceptible
291
689488
1507
en alguén que é vulnerable
11:42
at a time in a window
292
690995
2055
nun curto espazo de tempo
11:45
where we have the ability to transform,
293
693050
2347
en que temos a capacidade de transformar,
11:47
to be able to impact
294
695397
1603
de producir un efecto
11:49
that growing, developing brain is critical.
295
697000
2740
nese cerebro que medra
e se desenvolve, é crucial.
e se desenvolve, é crucial.
11:51
And so folks like Ami Klin have developed methods
296
699740
3809
Por iso, xente como Ami Klin
desenvolveu métodos
desenvolveu métodos
11:55
to be able to take infants, small babies,
297
703549
2568
para poder coller nenos, bebés,
11:58
and be able to use biomarkers,
298
706117
2533
e usar biomarcadores,
12:00
in this case eye contact and eye tracking,
299
708650
3338
neste caso, o contacto visual
e o seguimento ocular,
e o seguimento ocular,
12:03
to identify an infant at risk.
300
711988
2086
para identificar un neno en risco.
12:06
This particular infant, you can see,
301
714074
2165
Este neno en concreto,
como podedes ver,
como podedes ver,
12:08
making very good eye contact with this woman
302
716239
2201
fai moi bo contacto visual
con esa muller
con esa muller
12:10
as she's singing "Itsy, Bitsy Spider,"
303
718440
2360
mentres ela canta
"Itsy, Bitsy Spider",
"Itsy, Bitsy Spider",
12:12
in fact is not going to develop autism.
304
720800
3040
de feito, non vai
desenvolver autismo;
desenvolver autismo;
12:15
This baby we know is going to be in the clear.
305
723840
2880
este bebé sabemos
que está fóra de perigo.
que está fóra de perigo.
12:18
On the other hand, this other baby
306
726720
2360
Pola contra, estoutro bebé
12:21
is going to go on to develop autism.
307
729080
2335
vai desenvolver autismo.
12:23
In this particular child, you can see,
308
731415
2227
Este bebé en concreto, podedes ver
12:25
it's not making good eye contact.
309
733642
2201
que non fai un
bo contacto visual.
bo contacto visual.
12:27
Instead of the eyes focusing in
310
735843
1967
En lugar de fixar os ollos e
12:29
and having that social connection,
311
737810
2278
ter esa conexión social,
12:32
looking at the mouth, looking at the nose,
312
740088
2638
mira a boca, mira o nariz,
12:34
looking off in another direction,
313
742726
1783
mira noutra dirección
12:36
but not again socially connecting,
314
744509
2913
pero, unha vez máis,
sen conectar socialmente.
sen conectar socialmente.
12:39
and being able to do this on a very large scale,
315
747422
2713
E sermos capaces de facer
isto a grande escala,
isto a grande escala,
12:42
screen infants, screen children for autism,
316
750135
3000
examinando bebés
e nenos con autismo,
e nenos con autismo,
12:45
through something very robust, very reliable,
317
753135
2924
a través de algo moi rexo, moi fiable,
12:48
is going to be very helpful to us in terms of being
318
756059
2716
será de moita axuda para conseguir
12:50
able to intervene at an early stage
319
758775
2094
intervir nunha etapa temperá
12:52
when we can have the greatest impact.
320
760869
3432
en que poidamos ter o maior efecto.
12:56
How are we going to intervene?
321
764301
2246
Como imos intervir?
12:58
It's probably going to be a combination of factors.
322
766547
2830
Probablemente será
unha combinación de factores.
unha combinación de factores.
13:01
In part, in some individuals,
323
769377
2039
Por unha parte,
con algunhas persoas
con algunhas persoas
13:03
we're going to try and use medications.
324
771416
1879
intentaremos usar medicamentos.
13:05
And so in fact, identifying the genes for autism
325
773295
2722
Por iso, identificar os xenes do autismo
13:08
is important for us
326
776017
1526
é importante para nós
13:09
to identify drug targets,
327
777543
1866
para identificarmos
o albo dos fármacos,
o albo dos fármacos,
13:11
to identify things that we might be able to impact
328
779409
2623
para identificarmos aquilo en que
poidamos producir un cambio
poidamos producir un cambio
13:14
and can be certain that that's really
329
782032
1698
tendo a certeza de
que iso é realmente
que iso é realmente
13:15
what we need to do in autism.
330
783730
1695
o que precisamos
facer co autismo.
facer co autismo.
13:17
But that's not going to be the only answer.
331
785425
2741
Pero esa non vai ser a única resposta.
13:20
Beyond just drugs, we're going
to use educational strategies.
to use educational strategies.
332
788166
3510
Ademais dos fármacos, imos
usar estratexias educativas.
usar estratexias educativas.
13:23
Individuals with autism,
333
791676
1275
Hai persoas autistas
13:24
some of them are wired a little bit differently.
334
792951
2297
que teñen unha conexión
un pouco diferente.
un pouco diferente.
13:27
They learn in a different way.
335
795248
1859
Aprenden dunha forma diferente.
13:29
They absorb their surroundings in a different way,
336
797107
2334
Absorben o seu contorno
nun xeito diferente
nun xeito diferente
13:31
and we need to be able to educate them
337
799441
2219
e precisamos ser quen
de educalos
de educalos
13:33
in a way that serves them best.
338
801660
3093
da forma que lles resulte mellor.
13:36
Beyond that, there are a lot of individuals
339
804753
1918
Por outra parte, hai
un montón de persoas
un montón de persoas
13:38
in this room who have great ideas
340
806671
2146
nesta sala que teñen grandes ideas
13:40
in terms of new technologies we can use,
341
808817
2544
sobre as novas tecnoloxías que
poderiamos usar,
poderiamos usar,
13:43
everything from devices we can use to train the brain
342
811361
3119
desde dispositivos que podemos usar
para adestrar o cerebro
para adestrar o cerebro
13:46
to be able to make it more efficient
343
814480
1549
para facelo máis eficiente
13:48
and to compensate for areas in which
344
816029
1673
e compensar áreas en que
13:49
it has a little bit of trouble,
345
817702
1594
existan dificultades,
13:51
to even things like Google Glass.
346
819296
2279
ata cousas como Google Glass.
13:53
You could imagine, for instance, Gabriel,
347
821575
1784
Podedes imaxinar, por exemplo,
que Gabriel,
que Gabriel,
13:55
with his social awkwardness,
348
823359
1821
coa súa torpeza social,
13:57
might be able to wear Google Glass
349
825180
1458
puidese levar Google Glass
13:58
with an earpiece in his ear,
350
826638
1531
cun auricular no oído
14:00
and have a coach be able to help him,
351
828169
1927
e que un adestrador
puidese axudalo
puidese axudalo
14:02
be able to help think about conversations,
352
830096
2658
a pensar sobre conversas,
14:04
conversation-starters,
353
832754
1316
comezos de conversas,
14:06
being able to even perhaps one day
354
834070
2111
e mesmo quizais un día podería
14:08
invite a girl out on a date.
355
836181
2368
convidar unha rapaza a unha cita.
14:10
All of these new technologies
356
838549
2212
Todas estas novas tecnoloxías
14:12
just offer tremendous opportunities
357
840761
2006
ofrecen oportunidades colosais
14:14
for us to be able to impact
358
842767
1905
para poder producir un cambio
14:16
the individuals with autism,
359
844672
2685
nas persoas con autismo,
14:19
but yet we have a long way to go.
360
847357
2536
pero aínda temos
un longo camiño por diante.
un longo camiño por diante.
14:21
As much as we know,
361
849893
1310
Mesmo sabendo tanto,
14:23
there is so much more that we don't know,
362
851203
2957
hai moito máis que
aínda non sabemos
aínda non sabemos
14:26
and so I invite all of you
363
854160
2133
e, por iso, convídovos a todos
14:28
to be able to help us think about
364
856293
2242
a axudarnos a pensar
14:30
how to do this better,
365
858535
1411
como mellorar o que facemos,
14:31
to use as a community our collective wisdom
366
859946
2879
para utilizar a nosa sabedoría
colectiva en comunidade
colectiva en comunidade
14:34
to be able to make a difference,
367
862825
1806
e conseguir avanzar
14:36
and in particular,
368
864631
1257
e, en particular,
14:37
for the individuals in families with autism,
369
865888
2704
ás persoas en cuxa familia
haxa autismo,
haxa autismo,
14:40
I invite you to join the interactive autism network,
370
868592
3255
convídovos a unirvos á rede
interactiva do autismo
interactiva do autismo
14:43
to be part of the solution to this,
371
871847
2194
para ser parte da solución,
14:46
because it's going to take really a lot of us
372
874041
2879
porque son necesarias
moitas contribucións
moitas contribucións
14:48
to think about what's important,
373
876920
2270
para pensar no
que é importante,
que é importante,
14:51
what's going to be a meaningful difference.
374
879190
1925
no que representará
un avance significativo.
un avance significativo.
14:53
As we think about something
375
881115
1505
Cando pensemos en algo
14:54
that's potentially a solution,
376
882620
1832
que podería ser unha solución,
14:56
how well does it work?
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vai funcionar ben?
14:58
Is it something that's really
going to make a difference
going to make a difference
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É algo que, de verdade,
vai xerar un cambio
vai xerar un cambio
15:00
in your lives, as an individual,
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nas vosas vidas, como persoas,
15:02
as a family with autism?
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como familias con autismo?
15:04
We're going to need individuals of all ages,
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Imos precisar persoas
de todas as idades,
de todas as idades,
15:06
from the young to the old,
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das máis novas ás máis vellas
15:08
and with all different shapes and sizes
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e de todas as formas e talles
15:10
of the autism spectrum disorder
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con trastorno do espectro autista
15:12
to make sure that we can have an impact.
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para ter a certeza de podermos
provocar un cambio.
provocar un cambio.
15:14
So I invite all of you to join the mission
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Así que vos convido a unirvos á misión
15:16
and to help to be able to make the lives
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e axudarnos a conseguir que as vidas
15:19
of individuals with autism
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das persoas con autismo
15:21
so much better and so much richer.
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sexan moito mellores e máis ricas.
15:23
Thank you.
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Grazas.
(Aplausos)
15:25
(Applause)
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ABOUT THE SPEAKER
Wendy Chung - GeneticistAt the Simons Foundation, Wendy Chung is working to characterize behavior, brain structure and function in people with genetic variations that may relate to autism.
Why you should listen
Wendy Chung is the director of clinical research at the Simons Foundation Autism Research Initiative, which does both basic and applied science to serve people affected by autism spectrum disorders. She's the principal investigator of the foundation's Simons Variation in Individuals Project, which characterizes behavior and brain structure and function in participants with genetic copy number variants such as those at 16p11.2, which are believed to play a role in spectrum disorders.
Chung also directs the clinical genetics program at Columbia University. In assessing and treating kids with autism spectrum disorders and intellectual disabilities, she uses advanced genomic diagnostics to explore the genetic basis of neurological conditions. She thinks deeply about the ethical and emotional questions around genetic medicine and genetic testing.
Wendy Chung | Speaker | TED.com