TED2014
Wendy Chung: Autism — what we know (and what we don't know yet)
Wendy Chung: Autizmi — cfare dime (dhe cfare nuk dime ende)
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Ne kete prezantim faktik, geneticienia Wendy Chung ndan me ne ate qe dime rreth crregullimit te spektrit te autizmit-per shembull, qe autizmi ka shkaqe te shumfishta, qe ndoshta nderthuren me njera-tjetren. Duke pare pertej shqetesimit dhe merakut qe mund te rrethoje nje diagnoze, Chung dhe skuadra e saj studiojne ate cfare kemi mesuar ndermjet studimeve, trajtimeve dhe te degjuarit te kujdesshem.
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.
00:12
"Why?"
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"Pse?"
00:14
"Why?" is a question
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"Pse?" eshte nje pyetje
00:15
that parents ask me all the time.
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qe prinderit ma bejne vazhdimisht.
00:18
"Why did my child develop autism?"
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"Pse femija im ka autizem?"
00:21
As a pediatrician, as a geneticist, as a researcher,
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Si pediater, si gjeneticien, si studiues,
00:25
we try and address that question.
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ne mundohemi ti pergjigjemi kesaj pyetjeje.
00:28
But autism is not a single condition.
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Por autizmi nuk eshte nje crregullim i vetem.
00:30
It's actually a spectrum of disorders,
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Ne fakt ai perfshin nje spekter crregullimesh,
00:32
a spectrum that ranges, for instance,
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qe varion, per shembull,
00:35
from Justin, a 13-year-old boy
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nga Justin, nje djalosh 13-te vjecar
00:37
who's not verbal, who can't speak,
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qe eshte jo-verbal, qe s'mund te flasi,
00:41
who communicates by using an iPad
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qe komunikon duke perdorur nje iPad
00:43
to touch pictures to communicate
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duke prekur fotot per te komunikuar
00:45
his thoughts and his concerns,
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mendimet dhe shqetesimet e veta,
00:47
a little boy who, when he gets upset,
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nje djale i vogel, qe kur merzitet,
00:49
will start rocking,
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fillon te lekundet para-mbrapa,
00:51
and eventually, when he's disturbed enough,
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dhe kur eshte mjaftueshem i shqetesuar,
00:52
will bang his head to the point
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perplas koken deri ne ate pike
00:54
that he can actually cut it open and require stitches.
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qe mund ta presi dhe te kete nevoje per qepje.
00:58
That same diagnosis of autism, though,
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Por, e njejta diagnoze e autizmit,
01:00
also applies to Gabriel,
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i pershtatet gjithashtu Gabrielit,
01:02
another 13-year-old boy
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nje tjeter djalosh 13-te vjecar
01:04
who has quite a different set of challenges.
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qe ka nje set krejt tjeter sfidash.
01:07
He's actually quite remarkably gifted in mathematics.
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Ai ka ne fakt nje dhunti shume te madhe
ne matematike.
ne matematike.
01:10
He can multiple three numbers by three numbers
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Ai mund te shumezoje dy numra treshifore
01:12
in his head with ease,
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shume lehte me mendje,
01:14
yet when it comes to trying to have a conversation,
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nderkohe kur bie fjala
per te bere nje bisede,
per te bere nje bisede,
01:18
he has great difficulty.
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ai ka veshtiresi te medha.
01:20
He doesn't make eye contact.
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Ai nuk vendos kontakt me sy.
01:22
He has difficulty starting a conversation,
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Ai ka veshtiresi ne fillimin e nje bisede,
01:24
feels awkward,
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ndjehet cuditshem,
01:26
and when he gets nervous,
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dhe kur nervozohet,
01:27
he actually shuts down.
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ai mbyllet ne vetvete.
01:29
Yet both of these boys
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Por nderkohe te dy keta djem
01:31
have the same diagnosis of
autism spectrum disorder.
autism spectrum disorder.
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kane te njejten diagnoze te crregullimit
te spektrit te autizmit.
te spektrit te autizmit.
01:35
One of the things that concerns us
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Nje prej gjerave qe na shqeteson
01:37
is whether or not there really is
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eshte nese ka apo jo realisht
01:39
an epidemic of autism.
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nje epidemi autizmi.
01:41
These days, one in 88 children
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Keto dite, nje ne 88 femije
01:43
will be diagnosed with autism,
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do te diagnostifikohen me autizem,
01:45
and the question is,
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dhe pyetja eshte,
01:47
why does this graph look this way?
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pse shkon grafiku ne kete menyre?
01:49
Has that number been increasing
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Eshte rritur numri
01:51
dramatically over time?
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dramatikisht gjate kohes?
01:53
Or is it because we have now started labeling
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Apo ka ndodhur sepse tani
kemi filluar ti etiketojme
kemi filluar ti etiketojme
01:57
individuals with autism,
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individet me autizem,
01:59
simply giving them a diagnosis
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thjesht duke u vene diagnoze
02:01
when they were still present there before
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nderkohe qe ishin prezente edhe me pare
02:04
yet simply didn't have that label?
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por thjesht nuk kishin ate etikete?
02:06
And in fact, in the late 1980s, the early 1990s,
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Dhe ne fakt, ne fund te viteve '80,
dhe fillimi i viteve '90,
dhe fillimi i viteve '90,
02:10
legislation was passed
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u miratua legjislacioni
02:11
that actually provided individuals with autism
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qe siguroi individet me autizem
02:14
with resources, with access to educational materials
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me burime, me akses
ne materiale edukative
ne materiale edukative
02:18
that would help them.
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qe do i ndihmonte ata.
02:20
With that increased awareness, more parents,
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Me kete rritje ndergjegjesimi,
me shume prinder,
me shume prinder,
02:23
more pediatricians, more educators
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me shume pediater, me shume edukatore
02:26
learned to recognize the features of autism.
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mesuan te njohin karakteristikat e autizmit.
02:29
As a result of that, more individuals were diagnosed
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Si rezultat i kesaj, me shume individe
u diagnostifikuan
u diagnostifikuan
02:33
and got access to the resources they needed.
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dhe paten akses tek burimet
qe kishin nevoje.
qe kishin nevoje.
02:36
In addition, we've changed our definition over time,
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Pervec kesaj, kemi ndryshuar
perkufizimin me kalimin e kohes,
perkufizimin me kalimin e kohes,
02:40
so in fact we've widened the definition of autism,
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keshtu qe ne fakt kemi zgjeruar
perkufizimin e autizmit,
perkufizimin e autizmit,
02:43
and that accounts for some of
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dhe kjo shpjegon nje pjese
02:44
the increased prevalence that we see.
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te rritjes se perhapjes qe shohim.
02:47
The next question everyone wonders is,
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Pyetja tjeter qe te gjithe bejne eshte,
02:50
what caused autism?
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cfare e shkakton autizmin?
02:51
And a common misconception
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Dhe nje keqkuptim i zakonshem
02:54
is that vaccines cause autism.
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eshte qe vaksinat shkaktojne autizmin.
02:57
But let me be very clear:
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Por me lini te jem shume e qarte:
03:00
Vaccines do not cause autism.
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Vaksinat nuk shkaktojne autizem.
03:05
(Applause)
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(Duartrokitje)
03:11
In fact, the original research study
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Ne fakt, studimi kerkimor origjinal
03:13
that suggested that was the case
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qe sugjeroi qe ky ishte shkaku
03:15
was completely fraudulent.
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ishte krejtesisht mashtrim.
03:18
It was actually retracted from the journal Lancet,
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U terhoq nga revista Lancet,
03:21
in which it was published,
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ne te cilen ishte publikuar,
03:23
and that author, a physician,
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dhe autorit, nje mjek,
03:25
had his medical license taken away from him.
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iu hoq licenca e ushtrimit te profesionit.
03:28
(Applause)
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(Duartrokitje)
03:32
The Institute of Medicine,
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Instituti i Mjekesise,
03:34
The Centers for Disease Control,
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Qendra per Kontrollin e Semundjeve,
03:35
have repeatedly investigated this
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kane hetuar vazhdimisht rreth kesaj
03:38
and there is no credible evidence
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dhe nuk ka prova te besueshme
03:41
that vaccines cause autism.
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qe vaksinat shkaktojne autizem.
03:44
Furthermore,
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Me tej,
03:46
one of the ingredients in vaccines,
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nje prej perbersve te vaksinave,
03:48
something called thimerosal,
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dicka e quajtur thimerosal,
03:50
was thought to be what the cause of autism was.
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mendohej te ishte ai qe shkaktonte autizmin.
03:53
That was actually removed from vaccines
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Ai u hoq nga vaksinat
03:56
in the year 1992,
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ne vitin 1992,
03:57
and you can see that it really did not have an effect
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dhe mund ta shihni qe nuk pati
realisht nje efekt
realisht nje efekt
04:00
in what happened with the prevalence of autism.
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ne ate qe ndodhi me perhapjen e autizmit.
04:03
So again, there is no evidence
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Keshtu qe serish, nuk ka prova
04:05
that this is the answer.
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qe kjo eshte pergjigjja.
04:07
So the question remains, what does cause autism?
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Keshtu qe pyetja qendron,
cfare e shkakton autizmin?
cfare e shkakton autizmin?
04:11
In fact, there's probably not one single answer.
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Ne fakt, ndoshta nuk ka
nje pergjigje te vetme.
nje pergjigje te vetme.
04:14
Just as autism is a spectrum,
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Ashtu si autizmi eshte nje spekter,
04:16
there's a spectrum of etiologies,
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ka gjithashtu nje spekter te etiologjise,
04:18
a spectrum of causes.
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nje spekter te shkaqeve.
04:19
Based on epidemiological data,
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Bazuar ne te dhena epidemiologjike,
04:21
we know that one of the causes,
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dime qe nje prej shkaqeve,
04:23
or one of the associations, I should say,
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ose nje nga asocimet, mund te them,
04:25
is advanced paternal age,
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eshte mosha e madhe e babait,
04:28
that is, increasing age of the father
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qe do te thote rritja e moshes se babait
04:30
at the time of conception.
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ne momentin e konceptimit.
04:32
In addition, another vulnerable
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Pervec kesaj, nje tjeter periudhe
04:34
and critical period in terms of development
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delikate dhe kritike ne termat e zhvillimit
04:37
is when the mother is pregnant.
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eshte kur nena eshte shtatzane.
04:39
During that period, while
the fetal brain is developing,
the fetal brain is developing,
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Gjate kesaj periudhe, nderkohe
qe truri i fetusit po zhvillohet,
qe truri i fetusit po zhvillohet,
04:42
we know that exposure to certain agents
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dime qe ekspozimi ndaj disa faktoreve
04:43
can actually increase the risk of autism.
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mund te rrisi rrezikun e autizmit.
04:47
In particular, there's a medication, valproic acid,
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Ne vecanti, eshte nje mjekim, acidi valproic,
04:49
which mothers with epilepsy sometimes take,
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qe nenat me epilepsi marrin ndonjehere,
04:52
we know can increase that risk of autism.
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i cili e dime qe mund te rrisi
rrezikun ndaj autizmit.
rrezikun ndaj autizmit.
04:56
In addition, there can be some infectious agents
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Vec kesaj, mund te kete faktore infektues
04:58
that can also cause autism.
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qe mund te shkaktojne gjithashtu autizem.
05:01
And one of the things I'm going to spend
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Dhe nje nga keto gjera mbi te cilen do harxhoj
05:02
a lot of time focusing on
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goxha kohe duke u fokusuar
05:05
are the genes that can cause autism.
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jane gjenet qe shkaktojne autizmin.
05:07
I'm focusing on this not because genes
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Po fokusohem mbi kete jo sepse gjenet
05:10
are the only cause of autism,
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jane shkaku i vetem i autizmit,
05:12
but it's a cause of autism
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por jane nje shkak i autizmit
05:13
that we can readily define
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te cilin mund ta percaktojme lehtesisht
05:15
and be able to better understand the biology
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dhe te jemi te afte ta kuptojme
me mire biologjine
me mire biologjine
05:18
and understand better how the brain works
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dhe te kuptojme me mire si punon truri
05:20
so that we can come up with strategies
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qe te mund te krijojme nje strategji
05:22
to be able to intervene.
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me te cilen mund te nderhyjme.
05:25
One of the genetic factors that we don't understand,
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Nje nga shkaqet gjenetike
qe nuk kuptojme,
qe nuk kuptojme,
05:27
however, is the difference that we see
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prapseprap, eshte diferenca qe shohim
05:31
in terms of males and females.
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ne lidhje me meshkujt dhe femrat.
05:33
Males are affected four to one compared to females
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Meshkujt jane te prekur 4 me 1
krahasuar me femrat
krahasuar me femrat
05:36
with autism,
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me autizem,
05:37
and we really don't understand what that cause is.
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dhe ne nuk arrijme te kuptojme
realisht kush eshte shkaku i kesaj.
realisht kush eshte shkaku i kesaj.
05:41
One of the ways that we can understand
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Nje nga menyrat qe mund te kuptojme
05:42
that genetics is a factor
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qe gjenetika eshte nje faktor
05:44
is by looking at something called
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eshte duke pare tek dicka e quajtur
05:46
the concordance rate.
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shkalla e perputhjes.
05:47
In other words, if one sibling has autism,
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Me fjale te tjera, nese nje vella
ose moter ka autizem,
ose moter ka autizem,
05:51
what's the probability
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kush eshte probabiliteti
05:52
that another sibling in that family will have autism?
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qe vellai ose motra tjeter
ne ate familje te kete autizem?
ne ate familje te kete autizem?
05:55
And we can look in particular
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Dhe mund te shohim vecmas
05:57
at three types of siblings:
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tre lloj lidhjesh:
05:59
identical twins,
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binjake identike,
06:01
twins that actually share 100 percent
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binjake qe ndajne 100%
06:03
of their genetic information
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te informacionit te tyre gjenetik
06:05
and shared the same intrauterine environment,
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dhe qe kane ndare te njejtin ambient brendauterin,
06:08
versus fraternal twins,
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kundrejt binjakeve heterozigot,
06:10
twins that actually share 50 percent
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binjake qe ndajne vetem 50%
06:12
of their genetic information,
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te informacionit te tyre gjenetik,
06:14
versus regular siblings,
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kundrejt vellezerve/motrave normale,
06:15
brother-sister, sister-sister,
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vella-moter, moter-moter,
06:17
also sharing 50 percent of their genetic information,
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qe gjithashtu ndajne 50% te informacionit
te tyre gjenetik,
te tyre gjenetik,
06:20
yet not sharing the same intrauterine environment.
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nderkohe nuk kane ndare te njejtin
ambient brendauterin.
ambient brendauterin.
06:23
And when you look at those concordance ratios,
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Dhe kur sheh keto raporte konkordance,
06:25
one of the striking things that you will see
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nje nga gjerat qe te bejne
me shume pershtypje,
me shume pershtypje,
06:27
is that in identical twins,
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eshte qe binjaket identike,
06:30
that concordance rate is 77 percent.
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raporti i konkordances eshte 77 perqind.
06:33
Remarkably, though,
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Cuditerisht,
06:34
it's not 100 percent.
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nuk eshte 100 perqind.
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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Nuk eshte se genet jane pergjejgjes
per te gjitha rreziqet per autizem,
per te gjitha rreziqet per autizem,
06:40
but yet they account for a lot of that risk,
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por jane pergjejgjes per nje pjese
te mire te tyre,
te mire te tyre,
06:42
because when you look at fraternal twins,
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sepse kur sheh binjaket heterozigot,
06:45
that concordance rate is only 31 percent.
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kane konkordance vetem prej 31 perqind.
06:48
On the other hand, there is a difference
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Nga ana tjeter, ka nje diference
06:50
between those fraternal twins and the siblings,
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midis binjake heterozigote dhe vellezerve/motrave normale,
06:53
suggesting that there are common exposures
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qe sugjeron qe ka ekspozime te perbashketa
06:55
for those fraternal twins
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per binjaket heterozigot
06:57
that may not be shared as commonly
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qe nuk ndahen aq shpesh
06:59
with siblings alone.
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midis vellezerve / motrave normal.
07:01
So this provides some of the data
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Keshtu qe kjo na jep disa te dhena
07:03
that autism is genetic.
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qe autizmi eshte gjenetik.
07:04
Well, how genetic is it?
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Por, sa gjenetik eshte?
07:06
When we compare it to other conditions
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Kur e krahasojme me semundje te tjera
07:08
that we're familiar with,
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te cilat i njohim me teper,
07:10
things like cancer, heart disease, diabetes,
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si per shembull kanceri,
semundjet e zemres, diabeti,
semundjet e zemres, diabeti,
07:14
in fact, genetics plays a much larger role in autism
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ne fakt, gjenetika luan nje rol
me te madh ne autizem
me te madh ne autizem
07:18
than it does in any of these other conditions.
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sesa ne secilen prej ketyre semundjeve.
07:20
But with this, that doesn't
tell us what the genes are.
tell us what the genes are.
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Por me kete, nuk na thote
cfare jane gjenet.
cfare jane gjenet.
07:23
It doesn't even tell us in any one child,
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Nuk na thote as nese ne nje femije,
07:26
is it one gene
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eshte nje gjen
07:28
or potentially a combination of genes?
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apo nje kombinim gjenesh?
07:30
And so in fact, in some individuals with autism,
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Dhe ne fakt, tek disa individe me autizem,
07:33
it is genetic!
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eshte gjenetike!
07:36
That is, that it is one single,
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Kjo eshte, eshte nje gjen i vetem,
07:38
powerful, deterministic gene
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2172
i fuqishem dhe determinues,
07:40
that causes the autism.
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qe shkakton autizmin.
07:42
However, in other individuals,
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450713
1794
Sidoqofte, ne individe te tjere,
07:44
it's genetic, that is,
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452507
1706
eshte gjenetike, qe do te thote,
07:46
that it's actually a combination of genes
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qe eshte realisht nje kombinim gjenesh
07:49
in part with the developmental process
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pjeserisht me procesin e zhvillimit
07:52
that ultimately determines that risk for autism.
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qe percakton perfundimisht
rrezikun e autizmit.
rrezikun e autizmit.
07:55
We don't know in any one person, necessarily,
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Jo domosdoshmerisht
e dime per cdo person,
e dime per cdo person,
07:58
which of those two answers it is
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466378
2093
cila eshte pergjigjja nga keto te dyja
08:00
until we start digging deeper.
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468471
2041
deri ne momentin qe do fillojme
te germojme me thelle.
te germojme me thelle.
08:02
So the question becomes,
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470512
1287
Keshtu qe pyetja behet,
08:03
how can we start to identify
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2241
si mund te fillojme te identifikojme
08:06
what exactly those genes are.
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474040
1872
cfare jane tamam keto gjene.
08:07
And let me pose something
196
475912
1109
Me lini te parashtroj dicka
08:09
that might not be intuitive.
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2190
qe ndoshta nuk eshte intuitive.
08:11
In certain individuals,
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2359
Ne disa individe,
08:13
they can have autism
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481570
1724
ata mund te kene autizem
08:15
for a reason that is genetic
200
483294
2453
per nje arsye qe eshte gjenetike
08:17
but yet not because of autism running in the family.
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485747
3564
por jo sepse autizmi rrjedh ne familje.
08:21
And the reason is because in certain individuals,
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2379
Dhe arsyeja eshte qe ne disa individe,
08:23
they can actually have genetic changes or mutations
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491690
3061
mund te ndodhin ndryshime
gjenetike ose mutacione
gjenetike ose mutacione
08:26
that are not passed down from the mother
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494751
3043
qe nuk trashegohen nga nena
08:29
or from the father,
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497794
1487
apo babai,
08:31
but actually start brand new in them,
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499281
2733
por fillojne krejt te reja tek keta individe.
08:34
mutations that are present
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502014
1587
mutacione qe jane prezente
08:35
in the egg or the sperm
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503601
1403
tek veza ose sperma
08:37
at the time of conception
209
505004
1613
ne momentin e konceptimit
08:38
but have not been passed down
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506617
1742
por qe nuk jane trasheguar
08:40
generation through generation within the family.
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3006
brez pas brezi brenda familjes.
08:43
And we can actually use that strategy
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2181
Faktikisht, mund te perdorim kete strategji
08:45
to now understand and to identify
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513546
2334
per te kuptuar dhe identifikuar
08:47
those genes causing autism in those individuals.
214
515880
3100
gjenet qe shkaktojne autizmin
te keta individe.
te keta individe.
08:50
So in fact, at the Simons Foundation,
215
518980
2010
Keshtu qe ne fakt, tek Fondacioni Simons,
08:52
we took 2,600 individuals
216
520990
2726
ne perzgjodhem 2,600 individe
08:55
that had no family history of autism,
217
523716
2711
qe nuk kishin histori familjare autizmi,
08:58
and we took that child and their mother and father
218
526427
3170
dhe morem femijen se bashku
me nenen dhe babain
me nenen dhe babain
09:01
and used them to try and understand
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529597
2471
dhe i perdorem ne perpjekje per te kuptuar
09:04
what were those genes
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532068
1619
cfare ishin ato gjene
09:05
causing autism in those cases?
221
533687
2318
qe shkaktonin autizem ne ato raste?
09:08
To do that, we actually had to comprehensively
222
536005
3067
Per ta bere kete, na u desh faktikisht
qe ne menyre gjitheperfshirese
qe ne menyre gjitheperfshirese
09:11
be able to look at all that genetic information
223
539072
2730
te ishim te afte te shihnim gjithe
informacionin gjenetik
informacionin gjenetik
09:13
and determine what those differences were
224
541802
2182
dhe te percaktonim cilat ishin diferencat
09:15
between the mother, the father and the child.
225
543984
3701
midis nenes, babait dhe femijes.
09:19
In doing so, I apologize,
226
547685
1954
Duke bere kete, kerkoj ndjese,
09:21
I'm going to use an outdated analogy
227
549639
1884
do te perdor nje analogji te vjeteruar
09:23
of encyclopedias rather than Wikipedia,
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551523
2658
enciklopedie te ngjashem me Wikipedia,
09:26
but I'm going to do so to try and help make the point
229
554181
2999
por do e bej kete ne perpjekje
per te saktesuar piken
per te saktesuar piken
09:29
that as we did this inventory,
230
557180
2358
qe nderkohe qe beme kete inventar
09:31
we needed to be able to look at
231
559538
1593
patem nevoje te shihnim nje
09:33
massive amounts of information.
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561131
2173
sasi shume te madhe informacioni.
09:35
Our genetic information is organized
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563304
2287
Informacioni jone gjenetik eshte i organizuar
09:37
into a set of 46 volumes,
234
565591
2887
ne nje set prej 46 volumesh,
09:40
and when we did that, we had to be able to account
235
568478
1909
dhe kur e beme kete, duhet te ishim te afte
te shpjegonim
te shpjegonim
09:42
for each of those 46 volumes,
236
570387
1984
per secilen nga keto 46 volume,
09:44
because in some cases with autism,
237
572371
1853
sepse ne disa raste me autizem,
09:46
there's actually a single volume that's missing.
238
574224
2456
ndodh qe mungon vetem nje volum.
09:48
We had to get more granular than that, though,
239
576680
2310
Megjithate na u desh te shihnim
me ne imtesi,
me ne imtesi,
09:50
and so we had to start opening those books,
240
578990
2320
keshtu qe filluam te hapnim librat,
09:53
and in some cases, the genetic change
241
581310
1880
dhe ne disa raste, ndryshimet gjenetike
09:55
was more subtle.
242
583190
1388
ishin me pak te dukshme.
09:56
It might have been a single
paragraph that was missing,
paragraph that was missing,
243
584578
3186
Mund te ishte nje paragraf i vetem
qe mungonte,
qe mungonte,
09:59
or yet, even more subtle than that,
244
587764
3278
ose, akoma me pak e dukshme se kjo,
10:03
a single letter,
245
591042
1692
nje germe e vetme,
10:04
one out of three billion letters
246
592734
2802
nga ato tre miljard germa
10:07
that was changed, that was altered,
247
595536
2274
qe ishte ndryshuar, transformuar,
10:09
yet had profound effects
248
597810
1597
nderkohe kishte efekte te thella
10:11
in terms of how the brain functions
249
599407
1913
ne menyren si truri funksionon
10:13
and affects behavior.
250
601320
1817
dhe ndikon sjelljen.
10:15
In doing this within these families,
251
603137
2377
Duke bere kete me ato familje
10:17
we were able to account for approximately
252
605514
2318
ishim te afte te shpjegonim rreth
10:19
25 percent of the individuals
253
607832
2325
25 perqind te individeve
10:22
and determine that there was a single
254
610157
2547
dhe te percaktonim qe ka nje faktor
10:24
powerful genetic factor
255
612704
2196
te vetem te fuqishem gjenetik
10:26
that caused autism within those families.
256
614900
3124
qe shkaktonte autizmin ne ato familje.
10:30
On the other hand, there's 75 percent
257
618024
2252
Ne anen tjeter, eshte 75 perqindshi
10:32
that we still haven't figured out.
258
620276
2451
qe nuk kemi arritur te kuptojme ende.
10:34
As we did this, though,
259
622727
1470
Megjithate, nderkohe qe benim kete,
10:36
it was really quite humbling,
260
624197
2094
ishte me te vertet perulese,
10:38
because we realized that there was not simply
261
626291
2365
sepse kuptuam qe nuk kishte thjesht
10:40
one gene for autism.
262
628656
1941
nje gjen te vetem per autizmin.
10:42
In fact, the current estimates are
263
630597
1749
Ne fakt, vleresimet e tanishme tregojne
10:44
that there are 200 to 400 different genes
264
632346
2752
qe ka 200 deri ne 400 gjene te ndryshme
10:47
that can cause autism.
265
635098
1892
qe mund te shkaktojne autizem.
10:48
And that explains, in part,
266
636990
1369
Dhe kjo shpjegon, pjeserisht,
10:50
why we see such a broad spectrum
267
638359
2117
pse shohim nje spekter kaq te gjere
10:52
in terms of its effects.
268
640476
2043
duke iu referuar efekteve.
10:54
Although there are that many genes,
269
642519
2225
Megjithese ka kaq shume gene,
10:56
there is some method to the madness.
270
644744
2348
"cmeduria ndjek nje metode".
10:59
It's not simply random
271
647092
1948
Nuk eshte thjesht e rastesishme
11:01
200, 400 different genes,
272
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2230
200, 400 gene te ndryshem,
11:03
but in fact they fit together.
273
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1794
ne fakt ata perputhen se bashku.
11:05
They fit together in a pathway.
274
653064
1866
Perputhen ne rrugen qe ndjekin.
11:06
They fit together in a network
275
654930
1472
Perputhen ne nje rrjet
11:08
that's starting to make sense now
276
656402
1832
qe fillon te bej kuptim tani
11:10
in terms of how the brain functions.
277
658234
2698
ne menyren se si truri funksionon.
11:12
We're starting to have a bottom-up approach
278
660932
2146
Po fillojme te kemi nje qasje
nga poshte-lart
nga poshte-lart
11:15
where we're identifying those genes,
279
663078
1709
ku po identifikojme keto gjene,
11:16
those proteins, those molecules,
280
664787
2478
proteina, molekula,
11:19
understanding how they interact together
281
667265
1910
po kuptojme se si bashkepunojne
11:21
to make that neuron work,
282
669175
1397
qe ta bejne ate neuron te punoje,
11:22
understanding how those neurons interact together
283
670572
2737
po kuptojme se si keto neurone
bashkeveprojne
bashkeveprojne
11:25
to make circuits work,
284
673309
1219
qe te bejne qarqet te punojne,
11:26
and understand how those circuits work
285
674528
2016
dhe te kuptojme se si keto qarqe punojne
11:28
to now control behavior,
286
676544
1826
per te kontrolluar sjelljen,
11:30
and understand that both in individuals with autism
287
678370
2800
dhe te kuptojme kete si
tek individet me autizem
tek individet me autizem
11:33
as well as individuals who have normal cognition.
288
681170
3901
po ashtu edhe tek ata
me kognicion normal.
me kognicion normal.
11:37
But early diagnosis is a key for us.
289
685071
2458
Por celesi per ne eshte
diagnoza e hershme.
diagnoza e hershme.
11:39
Being able to make that diagnosis
290
687529
1959
Te jesh ne gjendje te diagnostikosh
11:41
of someone who's susceptible
291
689488
1507
dike qe eshte i prekshem
11:42
at a time in a window
292
690995
2055
ne nje hapsire kohore
11:45
where we have the ability to transform,
293
693050
2347
ku kemi aftesine per te trasformuar,
11:47
to be able to impact
294
695397
1603
aftesine per te ndikuar
11:49
that growing, developing brain is critical.
295
697000
2740
tek truri qe eshte duke u rritur
e zhvilluar, kjo eshte kritike.
e zhvilluar, kjo eshte kritike.
11:51
And so folks like Ami Klin have developed methods
296
699740
3809
Dhe keshtu njerez si Ami Klin
kane zhvilluar metoda
kane zhvilluar metoda
11:55
to be able to take infants, small babies,
297
703549
2568
per te qene te afte te marim foshje,
femije te vegjel,
femije te vegjel,
11:58
and be able to use biomarkers,
298
706117
2533
dhe te mundim te perdorim
shenuesit biologjike,
shenuesit biologjike,
12:00
in this case eye contact and eye tracking,
299
708650
3338
ne kete rast jane kontakti me sy
dhe ndjekja me sy,
dhe ndjekja me sy,
12:03
to identify an infant at risk.
300
711988
2086
per te identifikuar nje foshnje ne rrezik.
12:06
This particular infant, you can see,
301
714074
2165
Kjo foshnje ne vecanti, sic mund ta shihni,
12:08
making very good eye contact with this woman
302
716239
2201
po mban kontakt shume te mire
me sy me kete grua
me sy me kete grua
12:10
as she's singing "Itsy, Bitsy Spider,"
303
718440
2360
nderkohe qe ajo kendon:
Itsy, Bitsy Spider",
Itsy, Bitsy Spider",
12:12
in fact is not going to develop autism.
304
720800
3040
ne fakt nuk do te zhvilloje autizem.
12:15
This baby we know is going to be in the clear.
305
723840
2880
Ky femije e dime qe do jete i sigurt.
12:18
On the other hand, this other baby
306
726720
2360
Nga ana tjeter, ky femija tjeter
12:21
is going to go on to develop autism.
307
729080
2335
do te zhvilloje autizem.
Tek ky femije ne vecanti, mund te shihni
12:23
In this particular child, you can see,
308
731415
2227
qe nuk ka kontakt te mire me sy.
12:25
it's not making good eye contact.
309
733642
2201
Ne vend qe syte te fokusohen
12:27
Instead of the eyes focusing in
310
735843
1967
12:29
and having that social connection,
311
737810
2278
dhe te krijojne mardhenien sociale,
duke pare tek goja, duke pare tek hunda
12:32
looking at the mouth, looking at the nose,
312
740088
2638
duke drejtuar syte ne drejtim tjeter,
12:34
looking off in another direction,
313
742726
1783
por perseri pa krijuar mardhenie sociale,
12:36
but not again socially connecting,
314
744509
2913
dhe po te jemi ne gjendje ta bejme kete
ne nje shkalle te gjere,
ne nje shkalle te gjere,
12:39
and being able to do this on a very large scale,
315
747422
2713
te kontrollojme foshnjet, te kontrollojme
femijet per autizem,
femijet per autizem,
12:42
screen infants, screen children for autism,
316
750135
3000
nepermjet dickaje shume te qendrueshme,
shume te besueshme,
shume te besueshme,
12:45
through something very robust, very reliable,
317
753135
2924
12:48
is going to be very helpful to us in terms of being
318
756059
2716
do te jete shume ndihmuese per ne
ne lidhje me nderhyrjen
ne nje stad te hershem
ne nje stad te hershem
12:50
able to intervene at an early stage
319
758775
2094
12:52
when we can have the greatest impact.
320
760869
3432
ku mund te kemi dhe ndikimin me te madh.
12:56
How are we going to intervene?
321
764301
2246
Si do te nderhyjme?
Me shume mundesi do te jete
nje kombinim faktoresh.
nje kombinim faktoresh.
12:58
It's probably going to be a combination of factors.
322
766547
2830
Pjeserisht, ne disa individe,
13:01
In part, in some individuals,
323
769377
2039
ne do perpiqemi te perdorim medikamente.
13:03
we're going to try and use medications.
324
771416
1879
13:05
And so in fact, identifying the genes for autism
325
773295
2722
Dhe keshtu ne fakt, identifikimi
i geneve per autizem
i geneve per autizem
13:08
is important for us
326
776017
1526
eshte e rendesishme per ne
per te identifikuar objektivat
e medikamenteve,
e medikamenteve,
13:09
to identify drug targets,
327
777543
1866
13:11
to identify things that we might be able to impact
328
779409
2623
per te identifikuar gjera te cilat
mund te jemi ne gjendje te ndikojme
mund te jemi ne gjendje te ndikojme
13:14
and can be certain that that's really
329
782032
1698
dhe te jemi te sigurt qe kjo eshte
13:15
what we need to do in autism.
330
783730
1695
realisht cfare duhet te bejme ne autizem.
13:17
But that's not going to be the only answer.
331
785425
2741
Por kjo nuk do te jete pergjigjja e vetme.
13:20
Beyond just drugs, we're going
to use educational strategies.
to use educational strategies.
332
788166
3510
Pertej vetem medikamenteve,
do te perdorim strategji edukimi.
do te perdorim strategji edukimi.
Individet me autizem,
13:23
Individuals with autism,
333
791676
1275
13:24
some of them are wired a little bit differently.
334
792951
2297
disa prej tyre jane te ndertuar pak ndryshe.
13:27
They learn in a different way.
335
795248
1859
Ata mesojne ne nje menyre ndryshe.
13:29
They absorb their surroundings in a different way,
336
797107
2334
Ata i perthithin ato cfare i rrethon
ne nje menyre tjeter,
ne nje menyre tjeter,
13:31
and we need to be able to educate them
337
799441
2219
dhe ne duhet te jemi ne gjendje
ti edukojme ata
ti edukojme ata
13:33
in a way that serves them best.
338
801660
3093
ne nje menyre qe u sherben me mire.
Pertej kesaj, ka shume individe
13:36
Beyond that, there are a lot of individuals
339
804753
1918
13:38
in this room who have great ideas
340
806671
2146
ne kete dhome qe kane ide shume te mira
13:40
in terms of new technologies we can use,
341
808817
2544
ne lidhje me teknologjite e re
qe mund te perdorim,
qe mund te perdorim,
gjithcka nga paisjet qe mund
te perdorim per te trajnuar trurin
te perdorim per te trajnuar trurin
13:43
everything from devices we can use to train the brain
342
811361
3119
per ta bere ate me efektiv
13:46
to be able to make it more efficient
343
814480
1549
dhe per te kompesuar per zona ne te cilat
13:48
and to compensate for areas in which
344
816029
1673
13:49
it has a little bit of trouble,
345
817702
1594
has disa veshtiresi,
13:51
to even things like Google Glass.
346
819296
2279
per te shkuar deri tek gjerat
si Google Glass.
si Google Glass.
13:53
You could imagine, for instance, Gabriel,
347
821575
1784
Mund ta imagjinonosh per shembull,
Gabriel,
Gabriel,
13:55
with his social awkwardness,
348
823359
1821
me ngathtesine e tij sociale,
mund te veshi Google Glass
13:57
might be able to wear Google Glass
349
825180
1458
13:58
with an earpiece in his ear,
350
826638
1531
me nje kufje ne vesh,
14:00
and have a coach be able to help him,
351
828169
1927
dhe te kete nje trajner qe mund ta ndihmoje,
14:02
be able to help think about conversations,
352
830096
2658
ta ndihmoje te mendoje rreth bisedave,
14:04
conversation-starters,
353
832754
1316
nxitjes se bisedave,
14:06
being able to even perhaps one day
354
834070
2111
te jete i afte ndoshta nje dite
per te ftuar nje vajze qe te dale me te.
14:08
invite a girl out on a date.
355
836181
2368
Gjithe keto teknologji te reja
14:10
All of these new technologies
356
838549
2212
14:12
just offer tremendous opportunities
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na ofrojne mundesi te pafundme
14:14
for us to be able to impact
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per te ndikuar
tek individed me autizem,
14:16
the individuals with autism,
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por kemi ende nje rruge te gjate para.
14:19
but yet we have a long way to go.
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Per aq sa dime ne,
14:21
As much as we know,
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14:23
there is so much more that we don't know,
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ka kaq shume qe ne nuk dime akoma,
14:26
and so I invite all of you
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keshtu qe ju ftoj te gjithe ju
14:28
to be able to help us think about
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te na ndihmoni te mendojme
se si mund ta bejme kete me mire,
14:30
how to do this better,
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14:31
to use as a community our collective wisdom
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ta perdorim si nje komunitet
diturine tone kolektive
diturine tone kolektive
per te bere nje diference,
14:34
to be able to make a difference,
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dhe ne vecanti,
14:36
and in particular,
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14:37
for the individuals in families with autism,
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per individet ne familje me autizem,
14:40
I invite you to join the interactive autism network,
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ju ftoj ti bashkoheni rrjetit
nderveprues te autizmit,
nderveprues te autizmit,
14:43
to be part of the solution to this,
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te jeni pjese e zgjidhjes se kesaj,
sepse do duhen shume prej nesh
14:46
because it's going to take really a lot of us
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2879
14:48
to think about what's important,
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per te menduar cfare eshte e rendesishme,
cfare do te ishte nje diference kuptimplote.
14:51
what's going to be a meaningful difference.
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14:53
As we think about something
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Nderkohe qe mendojme rreth dickaje
14:54
that's potentially a solution,
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qe eshte zgjidhje potencialisht,
14:56
how well does it work?
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sa mire funksionon?
A eshte dicka qe do te beje
nje diference reale
nje diference reale
14:58
Is it something that's really
going to make a difference
going to make a difference
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15:00
in your lives, as an individual,
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ne jetet tona, si individe,
15:02
as a family with autism?
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si nje familje me autizem?
15:04
We're going to need individuals of all ages,
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Do te na duhen individe
nga te gjitha moshat,
nga te gjitha moshat,
15:06
from the young to the old,
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nga te rinjte deri tek te moshuarit,
15:08
and with all different shapes and sizes
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dhe nga te gjitha format dhe permasat
15:10
of the autism spectrum disorder
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te spektrit te crregullimit te autizmit
15:12
to make sure that we can have an impact.
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qe te jemi te sigurt qe do te kemi efekt.
15:14
So I invite all of you to join the mission
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Keshtu qe ju ftoj te gjithe juve
ti bashkoheni ketij misioni
ti bashkoheni ketij misioni
15:16
and to help to be able to make the lives
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dhe te na ndihmoni te bejme jetet
e individeve me autizem
15:19
of individuals with autism
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shume me te mira dhe te pasura.
15:21
so much better and so much richer.
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15:23
Thank you.
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Ju falemnderit!
(Duartrokitje)
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