TED2014
Wendy Chung: Autism — what we know (and what we don't know yet)
Wendy Chung: Autizam -- što znamo (i što još uvijek ne znamo)
Filmed:
Readability: 4.9
3,896,604 views
U ovom činjeničnom govoru, genetičarka Wendy Chung dijeli ono što znamo o spektru poremećaja autizma -- na primjer, da autizam ima različite, možda preklapajuće, uzroke. Gledajući dalje od brige i pažnje koja obavija ovu dijagnozu, Chung i njen tim koriste ono što smo naučili kroz istraživanja, liječenja i pažljivo slušanje.
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?"
0
722
1509
“Zašto?”
00:14
"Why?" is a question
1
2231
1458
“Zašto?” je pitanje
00:15
that parents ask me all the time.
2
3689
2636
koje mi roditelji stalno postavljaju.
00:18
"Why did my child develop autism?"
3
6325
2847
“Zašto je moje dijete autistično?”
00:21
As a pediatrician, as a geneticist, as a researcher,
4
9172
4454
Kao pedijatri, genetičari i istraživači,
00:25
we try and address that question.
5
13626
2443
pokušavamo odgovoriti na to pitanje.
00:28
But autism is not a single condition.
6
16069
1949
Ali autizam nije jednostavno stanje.
00:30
It's actually a spectrum of disorders,
7
18018
2715
Zapravo je čitav niz poremećaja,
00:32
a spectrum that ranges, for instance,
8
20733
2534
u spektru koji se proteže na primjerima,
00:35
from Justin, a 13-year-old boy
9
23267
2673
od trinaestogodišnjeg Justina
00:37
who's not verbal, who can't speak,
10
25940
3223
koji ne posjeduje verbalne sposobnosti, pa ne može pričati
00:41
who communicates by using an iPad
11
29163
1962
a komunicira koristeći se iPad-om
00:43
to touch pictures to communicate
12
31125
1898
dodirujući slike kako bi izrazio
00:45
his thoughts and his concerns,
13
33023
2151
svoje misli i osjećaje,
00:47
a little boy who, when he gets upset,
14
35174
2411
mladić koji se, kad se uzruja,
00:49
will start rocking,
15
37585
1648
počne mahnito tresti.
00:51
and eventually, when he's disturbed enough,
16
39233
1597
a nakon što se dovoljno jako uznemiri,
00:52
will bang his head to the point
17
40830
1603
počne udarati glavom
00:54
that he can actually cut it open and require stitches.
18
42433
3842
do te mjere da je razbije, pa mu je potrebno šivanje.
00:58
That same diagnosis of autism, though,
19
46275
2615
Ista ta dijagnoza,
01:00
also applies to Gabriel,
20
48890
1922
odnosi se i na Gabriela,
01:02
another 13-year-old boy
21
50812
1967
također trinaestogodišnjaka
01:04
who has quite a different set of challenges.
22
52779
2695
čiji su izazovi poprilično drugačiji.
01:07
He's actually quite remarkably gifted in mathematics.
23
55474
3114
On je zapravo izvanredno nadaren za matematiku.
01:10
He can multiple three numbers by three numbers
24
58588
2021
Može pomnožiti tri broja s tri broja
01:12
in his head with ease,
25
60609
1787
napamet s lakoćom,
01:14
yet when it comes to trying to have a conversation,
26
62396
3758
ipak, kad bi pokušao razgovarati,
01:18
he has great difficulty.
27
66154
2061
suočava se s velikim poteškoćama.
01:20
He doesn't make eye contact.
28
68215
2059
Ne uspostavlja kontakt očima.
01:22
He has difficulty starting a conversation,
29
70274
2123
Teško mu je započeti razgovor,
01:24
feels awkward,
30
72397
1735
osjeća se čudno,
01:26
and when he gets nervous,
31
74132
1818
a kad se uznemiri,
01:27
he actually shuts down.
32
75950
1725
doslovno se isključi.
01:29
Yet both of these boys
33
77675
1482
Ipak, obojici mladića
01:31
have the same diagnosis of
autism spectrum disorder.
autism spectrum disorder.
34
79157
4184
dijagnosticiran je isti autistični
poremećaj sa spektrom.
poremećaj sa spektrom.
01:35
One of the things that concerns us
35
83341
2428
Jedna od stvari koja nas brine
01:37
is whether or not there really is
36
85769
1597
jest dolazi li ili ne
01:39
an epidemic of autism.
37
87366
1973
do epidemije autizma.
01:41
These days, one in 88 children
38
89339
2480
Ovih dana, jednom od 88-ero djece
01:43
will be diagnosed with autism,
39
91819
2042
bit će dijagnosticiran autizam,
01:45
and the question is,
40
93861
1473
a pitanje glasi,
01:47
why does this graph look this way?
41
95334
2003
zašto ovaj grafikon izgleda ovako?
01:49
Has that number been increasing
42
97337
1967
Je li se taj broj povećavao
01:51
dramatically over time?
43
99304
1934
dramatično kroz vrijeme?
01:53
Or is it because we have now started labeling
44
101238
4531
Ili je to zato što smo sada počeli etiketirati
01:57
individuals with autism,
45
105769
1562
autistične pojedince,
01:59
simply giving them a diagnosis
46
107331
2248
jednostavno im dajući dijagnozu
02:01
when they were still present there before
47
109579
2553
iako je i prije postojala
02:04
yet simply didn't have that label?
48
112132
2393
ali nije imala tu etiketu?
02:06
And in fact, in the late 1980s, the early 1990s,
49
114525
3991
Zapravo, u kasnim 80-tima i ranim 90-tima,
02:10
legislation was passed
50
118516
1410
prošao je zakon
02:11
that actually provided individuals with autism
51
119926
2639
koji je omogućio autističnim pojedincima
02:14
with resources, with access to educational materials
52
122565
3726
pristup izvorima i materijalima za učenje
02:18
that would help them.
53
126291
1772
koji bi im pomogli.
02:20
With that increased awareness, more parents,
54
128063
3488
S tim povećanjem svijesti, sve više roditelja,
02:23
more pediatricians, more educators
55
131551
2746
sve više pedijatara i obrazovnih djelatnika
02:26
learned to recognize the features of autism.
56
134297
3255
naučilo je prepoznati karakteristike autizma.
02:29
As a result of that, more individuals were diagnosed
57
137552
4010
Kao rezultat toga, sve više pojedinaca je dobilo dijagnozu
02:33
and got access to the resources they needed.
58
141562
3188
i pristup izvorima informacija koji su im neophodni.
02:36
In addition, we've changed our definition over time,
59
144750
3432
Dodatno, s vremenom smo promjenili našu definiciju,
02:40
so in fact we've widened the definition of autism,
60
148182
3138
pa smo zapravo proširili definiciju autizma,
02:43
and that accounts for some of
61
151320
1120
što je djelomice rezultiralo
02:44
the increased prevalence that we see.
62
152440
3015
povećanju rasprostranjenosti koje vidimo.
02:47
The next question everyone wonders is,
63
155455
2660
Sljedeće pitanje koje si svi postavljaju je,
02:50
what caused autism?
64
158115
1776
što uzrokuje autizam?
02:51
And a common misconception
65
159891
2895
I uvriježena je zabluda
02:54
is that vaccines cause autism.
66
162786
2784
da ga uzrokuje cjepivo.
02:57
But let me be very clear:
67
165570
3051
I dopustite mi da budem vrlo jasna:
03:00
Vaccines do not cause autism.
68
168621
4487
Cjepivo ne uzrokuje autizam.
03:05
(Applause)
69
173108
6704
(Pljesak)
03:11
In fact, the original research study
70
179812
2123
U stvari, originalno istraživanje
03:13
that suggested that was the case
71
181935
1999
koje je ukazivalo na to
03:15
was completely fraudulent.
72
183934
2875
bilo je u potpunosti varljivo.
03:18
It was actually retracted from the journal Lancet,
73
186809
3176
To je zapravo izvedeno iz časopisa Lancet,
03:21
in which it was published,
74
189985
1592
u kojem je objavljeno,
03:23
and that author, a physician,
75
191577
1890
a autoru, liječniku,
03:25
had his medical license taken away from him.
76
193467
3254
je oduzeta liječnička dozvola.
03:28
(Applause)
77
196721
3954
(Pljesak)
03:32
The Institute of Medicine,
78
200675
1582
Medicinski Institut
03:34
The Centers for Disease Control,
79
202257
1563
Centar za Kontrolu Bolesti,
03:35
have repeatedly investigated this
80
203820
2344
opetovano je istražio ovo
03:38
and there is no credible evidence
81
206164
3607
i ne postoje uvjerljivi dokazi
03:41
that vaccines cause autism.
82
209771
2685
da cjepiva uzrokuju autizam.
03:44
Furthermore,
83
212456
1637
Nadalje,
03:46
one of the ingredients in vaccines,
84
214093
2469
za jedan od sastojaka u cjepivu,
03:48
something called thimerosal,
85
216562
2052
nazvan thimerosal,
03:50
was thought to be what the cause of autism was.
86
218614
3316
se mislilo da je uzročnik autizma.
03:53
That was actually removed from vaccines
87
221930
2263
Stoga su taj sastojak povukli iz cjepiva
03:56
in the year 1992,
88
224193
1725
1992. godine,
03:57
and you can see that it really did not have an effect
89
225918
3044
a ipak možete vidjeti da to nije nikako utjecalo
04:00
in what happened with the prevalence of autism.
90
228962
2639
na rasprostranjivanje autizma.
04:03
So again, there is no evidence
91
231601
1733
Stoga ponavljam, ne postoji dokaz
04:05
that this is the answer.
92
233334
2082
da je ovo odgovor.
04:07
So the question remains, what does cause autism?
93
235416
4143
Stoga, pitanje i dalje ostaje, što uzrokuje autizam?
04:11
In fact, there's probably not one single answer.
94
239559
2831
U stvari, vjerojatno ne postoji jednoznačan odgovor.
04:14
Just as autism is a spectrum,
95
242390
1757
Baš kao što je autizam spektar,
04:16
there's a spectrum of etiologies,
96
244147
2190
postoji spektar etiologija,
04:18
a spectrum of causes.
97
246337
1652
čitav niz uzroka.
04:19
Based on epidemiological data,
98
247989
1991
Na temelju epidemioloških podataka,
04:21
we know that one of the causes,
99
249980
1793
znamo da je jedan od uzročnika,
04:23
or one of the associations, I should say,
100
251773
2157
ili jedna od naznaka, rekla bih,
04:25
is advanced paternal age,
101
253930
2284
roditeljstvo u starijoj dobi,
04:28
that is, increasing age of the father
102
256214
1937
što će reći, što stariji otac
04:30
at the time of conception.
103
258151
2179
u trenutku začeća.
04:32
In addition, another vulnerable
104
260330
2144
Drugi ranjiv
04:34
and critical period in terms of development
105
262474
2630
i kritičan trenutak u smislu razvoja
04:37
is when the mother is pregnant.
106
265104
1906
je kad je majka trudna.
04:39
During that period, while
the fetal brain is developing,
the fetal brain is developing,
107
267010
2990
U tom vremenu, dok se
mozak fetusa razvija,
mozak fetusa razvija,
04:42
we know that exposure to certain agents
108
270000
1942
znamo da izloženost određenim tvarima
04:43
can actually increase the risk of autism.
109
271942
3085
može povećati rizik od autizma.
04:47
In particular, there's a medication, valproic acid,
110
275027
2935
Konkretno, postoji lijek, valproična kiselina,
04:49
which mothers with epilepsy sometimes take,
111
277962
2586
koji ponekad uzimaju majke s poremećajem epilepsije,
04:52
we know can increase that risk of autism.
112
280548
3672
za koji znamo da povećava rizik od autizma.
04:56
In addition, there can be some infectious agents
113
284220
2299
Također, postoje zarazne tvari,
04:58
that can also cause autism.
114
286519
2900
koje također mogu uzrokovati autizam.
05:01
And one of the things I'm going to spend
115
289419
1580
I jedna od stvari na koje ću se
05:02
a lot of time focusing on
116
290999
2061
posebno usredotočiti
05:05
are the genes that can cause autism.
117
293060
2561
jesu geni koji uzrokuju autizam.
05:07
I'm focusing on this not because genes
118
295621
2456
Ne činim to jer
05:10
are the only cause of autism,
119
298077
2144
su geni jedini uzrok autizma,
05:12
but it's a cause of autism
120
300221
1569
već stoga što je to uzrok
05:13
that we can readily define
121
301790
1877
koji možemo spremno definirati
05:15
and be able to better understand the biology
122
303667
2793
i biti bolji u razumijevanju biologije
05:18
and understand better how the brain works
123
306460
2269
i boljem razumijevanju kako funkcionira mozak
05:20
so that we can come up with strategies
124
308729
1985
kako bismo osmislili strategije
05:22
to be able to intervene.
125
310714
2330
koje nam omogućuju intervenciju.
05:25
One of the genetic factors that we don't understand,
126
313044
2946
Jedan od generičkih faktora, a koji ne razumijemo,
05:27
however, is the difference that we see
127
315990
3148
jest razlika koju vidimo
05:31
in terms of males and females.
128
319138
1906
između muškaraca i žena.
05:33
Males are affected four to one compared to females
129
321044
3005
Muškarci su naspram žena pogođeni u omjeru četiri naprema jedan
05:36
with autism,
130
324049
1102
autizmom,
05:37
and we really don't understand what that cause is.
131
325151
3991
i mi zaista ne razumijemo zašto.
05:41
One of the ways that we can understand
132
329142
1718
Jedan od načina kako smo spoznali
05:42
that genetics is a factor
133
330860
1863
da je genetika faktor
05:44
is by looking at something called
134
332723
1337
jest gledajući nešto što se naziva
05:46
the concordance rate.
135
334060
1890
stopa podudarnosti.
05:47
In other words, if one sibling has autism,
136
335950
3188
Drugim riječima, ako je jedno od braće/sestara autistično,
05:51
what's the probability
137
339138
1487
koja je vjerojatnost
05:52
that another sibling in that family will have autism?
138
340625
3004
da će drugi član obitelji biti autističan?
05:55
And we can look in particular
139
343629
1565
Konkretno, možemo promotriti
05:57
at three types of siblings:
140
345194
2168
tri vrste srodstva:
05:59
identical twins,
141
347362
1871
jednojajčane blizance,
06:01
twins that actually share 100 percent
142
349233
2219
blizance koji dijele sto posto
06:03
of their genetic information
143
351452
1602
svojih gena
06:05
and shared the same intrauterine environment,
144
353054
3176
i koji su dijelili jednako materično okruženje,
06:08
versus fraternal twins,
145
356230
2245
nasuprot dvojajčanih blizanaca,
06:10
twins that actually share 50 percent
146
358475
1989
blizanaca koji dijele pedeset posto
06:12
of their genetic information,
147
360464
2027
svojih genetskih informacija,
06:14
versus regular siblings,
148
362491
1216
nasuprot običnih,
06:15
brother-sister, sister-sister,
149
363707
1869
braće i sestara,
06:17
also sharing 50 percent of their genetic information,
150
365576
2868
koji također dijele pedeset posto svog genetskog koda,
06:20
yet not sharing the same intrauterine environment.
151
368444
3079
ali ne dijele unutarmaterično okruženje.
06:23
And when you look at those concordance ratios,
152
371523
2300
I kad se pogledaju te stope podudarnosti,
06:25
one of the striking things that you will see
153
373823
2057
jedna od zapanjujućih stvari koja je vidljiva
06:27
is that in identical twins,
154
375880
2120
je da kod jednojajčani blizanci,
06:30
that concordance rate is 77 percent.
155
378000
3353
stopa podudarnosti iznosi 77 posto.
06:33
Remarkably, though,
156
381353
1104
Iako osobito visok postotak,
06:34
it's not 100 percent.
157
382457
2148
nije stopostotan.
06:36
It is not that genes account
for all of the risk for autism,
for all of the risk for autism,
158
384605
4003
Znači nije sav rizik na genima,
06:40
but yet they account for a lot of that risk,
159
388608
2241
ali geni igraju značajnu ulogu,
06:42
because when you look at fraternal twins,
160
390849
2313
jer ako promotrimo dvojajčane blizance,
06:45
that concordance rate is only 31 percent.
161
393162
3076
vidimo da je stopa podudarnosti samo 31 posto.
06:48
On the other hand, there is a difference
162
396238
1911
S druge strane, postoji razlika
06:50
between those fraternal twins and the siblings,
163
398149
2943
između dvojajčanih blizanaca i ostalih braće/sestara,
06:53
suggesting that there are common exposures
164
401092
2664
koja ukazuje da postoje zajedničke izloženosti
06:55
for those fraternal twins
165
403756
1423
kod dvojajčanih blizanaca
06:57
that may not be shared as commonly
166
405179
2117
koje se neće tako često pojaviti
06:59
with siblings alone.
167
407296
2174
kod ostalih braće/sestara.
07:01
So this provides some of the data
168
409470
1686
Dakle to nam govori u prilog tome
07:03
that autism is genetic.
169
411156
1622
da je autizam genetski.
07:04
Well, how genetic is it?
170
412778
1964
Međutim, koliko je genetski?
07:06
When we compare it to other conditions
171
414742
1843
Kad ga usporedimo s ostalim bolestima
07:08
that we're familiar with,
172
416585
1612
s kojima smo upoznati,
07:10
things like cancer, heart disease, diabetes,
173
418197
3880
bolestima kao što su rak, srčana oboljenja ili dijabetes
07:14
in fact, genetics plays a much larger role in autism
174
422077
3953
genetika igra znatno značajniju ulogu u autizmu
07:18
than it does in any of these other conditions.
175
426030
2440
nego što je to slučaj u ostalim navedenim bolestima.
07:20
But with this, that doesn't
tell us what the genes are.
tell us what the genes are.
176
428470
3342
Ali s tim, ne govori
nam koji su to geni.
nam koji su to geni.
07:23
It doesn't even tell us in any one child,
177
431812
2667
Čak nam ne govori ni u jednom dijetetu,
07:26
is it one gene
178
434479
1661
je li to stvar jednog gena
07:28
or potentially a combination of genes?
179
436140
2256
ili potencijalno kombinacije više gena?
07:30
And so in fact, in some individuals with autism,
180
438396
3554
Zapravo, kod nekih pojedinaca s autizmom,
07:33
it is genetic!
181
441950
2514
to jest genetski!
07:36
That is, that it is one single,
182
444464
2230
To jest, to je jedan jedini,
07:38
powerful, deterministic gene
183
446694
2172
moćan, deterministički gen
07:40
that causes the autism.
184
448866
1847
koji uzrokuje autizam.
07:42
However, in other individuals,
185
450713
1794
Međutim, kod drugih pojedinaca,
07:44
it's genetic, that is,
186
452507
1706
je genetski, što će reći,
07:46
that it's actually a combination of genes
187
454213
3120
da je zapravo kombinacija gena
07:49
in part with the developmental process
188
457333
2795
zajedno s razvojnim procesom
07:52
that ultimately determines that risk for autism.
189
460128
3380
koji konačno određuje rizik od autizma.
07:55
We don't know in any one person, necessarily,
190
463508
2870
Ni za jednu osobu ne možemo nužno tvrditi,
07:58
which of those two answers it is
191
466378
2093
koji je slučaj od ova dva navedena
08:00
until we start digging deeper.
192
468471
2041
dok ne počnemo kopati dublje.
08:02
So the question becomes,
193
470512
1287
Sada se pitamo,
08:03
how can we start to identify
194
471799
2241
kako početi identificirati
08:06
what exactly those genes are.
195
474040
1872
koji su to točno geni.
08:07
And let me pose something
196
475912
1109
Dopustite da predložim nešto
08:09
that might not be intuitive.
197
477021
2190
što možda nije intuitivno.
08:11
In certain individuals,
198
479211
2359
Kod određenih pojedinaca,
08:13
they can have autism
199
481570
1724
oni mogu imati autizam
08:15
for a reason that is genetic
200
483294
2453
zbog genetičkih razloga
08:17
but yet not because of autism running in the family.
201
485747
3564
ali ne zato što se autizam javlja u obitelji.
08:21
And the reason is because in certain individuals,
202
489311
2379
A razlog je zato što određeni pojedinci,
08:23
they can actually have genetic changes or mutations
203
491690
3061
oni mogu zapravo imati genetske promjene ili mutacije
08:26
that are not passed down from the mother
204
494751
3043
koje nisu prenesene od majke
08:29
or from the father,
205
497794
1487
ili od oca
08:31
but actually start brand new in them,
206
499281
2733
već počinju kao novi u njima,
08:34
mutations that are present
207
502014
1587
mutacije koje su prisutne
08:35
in the egg or the sperm
208
503601
1403
u jajašcu ili spermiju
08:37
at the time of conception
209
505004
1613
u trenutku začeća
08:38
but have not been passed down
210
506617
1742
ali nisu prenošene
08:40
generation through generation within the family.
211
508359
3006
generaciju kroz generaciju unutar obitelji.
08:43
And we can actually use that strategy
212
511365
2181
I zapravo možemo koristiti tu strategiju
08:45
to now understand and to identify
213
513546
2334
da razumijemo i identificiramo
08:47
those genes causing autism in those individuals.
214
515880
3100
one gene koji uzrokuju autizam u tih pojedinaca.
08:50
So in fact, at the Simons Foundation,
215
518980
2010
Zapravo, u Simons Fondaciji
08:52
we took 2,600 individuals
216
520990
2726
uzeli smo oko 2.600 pojedinaca
08:55
that had no family history of autism,
217
523716
2711
koji nisu imali autizam u obiteljskoj povijesti,
08:58
and we took that child and their mother and father
218
526427
3170
uzeli smo to dijete, te negovu majku i oca
09:01
and used them to try and understand
219
529597
2471
i koristili smo ih kako bi pokušali razumjeti
09:04
what were those genes
220
532068
1619
koji su to geni
09:05
causing autism in those cases?
221
533687
2318
što uzrokuju autizam u tim slučajevima?
09:08
To do that, we actually had to comprehensively
222
536005
3067
Kako bi smo to učinili, morali smo zapravo opsežno
09:11
be able to look at all that genetic information
223
539072
2730
pregledavati sve njihove genetske informacije
09:13
and determine what those differences were
224
541802
2182
i odrediti koje su to razlike
09:15
between the mother, the father and the child.
225
543984
3701
između majke, oca i djeteta.
09:19
In doing so, I apologize,
226
547685
1954
Kako bi to uradili, ispričavam se,
09:21
I'm going to use an outdated analogy
227
549639
1884
koristit ću jedno zastarjelu analogiju
09:23
of encyclopedias rather than Wikipedia,
228
551523
2658
enciklopedija, a ne Wikipedije,
09:26
but I'm going to do so to try and help make the point
229
554181
2999
ali učinit ću to kako bi pokušala i pomogla stvoriti smisao
09:29
that as we did this inventory,
230
557180
2358
da dok smo radili inventar,
09:31
we needed to be able to look at
231
559538
1593
trebala nam je mogućnost gledanja natrag
09:33
massive amounts of information.
232
561131
2173
na veliku količinu informacija.
09:35
Our genetic information is organized
233
563304
2287
Naše genetičke informacije su organizirane
09:37
into a set of 46 volumes,
234
565591
2887
u setu od 46 svezaka,
09:40
and when we did that, we had to be able to account
235
568478
1909
i kada smo to učinili, morali smo biti u mogućnost koristiti
09:42
for each of those 46 volumes,
236
570387
1984
svaki od tih 46 svezaka,
09:44
because in some cases with autism,
237
572371
1853
jer u nekim slučajevima autizma,
09:46
there's actually a single volume that's missing.
238
574224
2456
zapravo nedostaje jedan svezak.
09:48
We had to get more granular than that, though,
239
576680
2310
Morali smo biti još temeljitiji,
09:50
and so we had to start opening those books,
240
578990
2320
morali smo početi otvarati te knjige,
09:53
and in some cases, the genetic change
241
581310
1880
i u nekim slučajevima, genetske razlike
09:55
was more subtle.
242
583190
1388
su bile više suptilne.
09:56
It might have been a single
paragraph that was missing,
paragraph that was missing,
243
584578
3186
To je možda bio jedan
odlomak koji je nedostajao,
odlomak koji je nedostajao,
09:59
or yet, even more subtle than that,
244
587764
3278
ili možda čak suptilnije od toga,
10:03
a single letter,
245
591042
1692
samo slovo,
10:04
one out of three billion letters
246
592734
2802
jedno od tri milijarde slova
10:07
that was changed, that was altered,
247
595536
2274
koje je promjenjeno, koje je drugačije,
10:09
yet had profound effects
248
597810
1597
ali ipak ima dubok učinak
10:11
in terms of how the brain functions
249
599407
1913
govoreći o tome kako mozak funkcionira
10:13
and affects behavior.
250
601320
1817
i utječe na ponašanje.
10:15
In doing this within these families,
251
603137
2377
Radeći ovo s obiteljima,
10:17
we were able to account for approximately
252
605514
2318
uspjeli smo utvrditi za otprilike
10:19
25 percent of the individuals
253
607832
2325
25% pojedinaca
10:22
and determine that there was a single
254
610157
2547
i odrediti da postoji jedan
10:24
powerful genetic factor
255
612704
2196
snažan genetski faktor
10:26
that caused autism within those families.
256
614900
3124
koji uzrokuje autizam unutar tih obitelji.
10:30
On the other hand, there's 75 percent
257
618024
2252
U drugu ruku, postoji 75%
10:32
that we still haven't figured out.
258
620276
2451
koje još nismo otkrili.
10:34
As we did this, though,
259
622727
1470
Kako smo ovo radili,
10:36
it was really quite humbling,
260
624197
2094
to je bilo zapravo poražavajuće
10:38
because we realized that there was not simply
261
626291
2365
jer smo shvatili da jednostavno ne postoji
10:40
one gene for autism.
262
628656
1941
jedan gen za autizam.
10:42
In fact, the current estimates are
263
630597
1749
Zapravo, trenutne pretpostavke su
10:44
that there are 200 to 400 different genes
264
632346
2752
da postoji između 200 i 400 različitih gena
10:47
that can cause autism.
265
635098
1892
koji mogu uzrokovati autizam.
10:48
And that explains, in part,
266
636990
1369
To objašnjava, djelomično,
10:50
why we see such a broad spectrum
267
638359
2117
zašto vidimo tako širok spektar
10:52
in terms of its effects.
268
640476
2043
govoreći o njegovim učincima.
10:54
Although there are that many genes,
269
642519
2225
Iako postoji tako puno gena,
10:56
there is some method to the madness.
270
644744
2348
postoje neke metode u ovom ludilu.
10:59
It's not simply random
271
647092
1948
Nisu jednostavno nasumice
11:01
200, 400 different genes,
272
649040
2230
200, 400 različitih gena,
11:03
but in fact they fit together.
273
651270
1794
već se oni zajedno slažu.
11:05
They fit together in a pathway.
274
653064
1866
Zajedno se slažu u putu nastanka.
11:06
They fit together in a network
275
654930
1472
Slažu se zajedno u mreži
11:08
that's starting to make sense now
276
656402
1832
koja počinje imati smisla sada
11:10
in terms of how the brain functions.
277
658234
2698
govoreći o tome kako mozak funkcionira.
11:12
We're starting to have a bottom-up approach
278
660932
2146
Počinjemo koristiti pristup odozdo prema gore
11:15
where we're identifying those genes,
279
663078
1709
gdje identificiramo te gene,
11:16
those proteins, those molecules,
280
664787
2478
te proteine, te molekule,
11:19
understanding how they interact together
281
667265
1910
razumijevajući kako međusobno djeluju
11:21
to make that neuron work,
282
669175
1397
i ostvaruju rad neurona,
11:22
understanding how those neurons interact together
283
670572
2737
razumijevajući kako ti neuroni djeluju međusobno
11:25
to make circuits work,
284
673309
1219
u omogućavanju rada krugova,
11:26
and understand how those circuits work
285
674528
2016
i razumijevajući kako ti krugovi rade,
11:28
to now control behavior,
286
676544
1826
te kako kontroliraju ponašanje,
11:30
and understand that both in individuals with autism
287
678370
2800
i razumijevajući to i kod pojedinaca s autizmom
11:33
as well as individuals who have normal cognition.
288
681170
3901
kao i kod pojedinaca koji imaju normalne kognitivne sposobnosti.
11:37
But early diagnosis is a key for us.
289
685071
2458
Rana dijagnoza je ključ za nas.
11:39
Being able to make that diagnosis
290
687529
1959
Mogućnost dijagnosticiranja
11:41
of someone who's susceptible
291
689488
1507
nekoga tko je podložan
11:42
at a time in a window
292
690995
2055
u to vrijeme u okviru
11:45
where we have the ability to transform,
293
693050
2347
gdje imamo mogućnost promijeniti,
11:47
to be able to impact
294
695397
1603
gdje možemo utjecati
11:49
that growing, developing brain is critical.
295
697000
2740
na rastući, razvijajući mozak je kritično.
11:51
And so folks like Ami Klin have developed methods
296
699740
3809
Ljudi poput Ami Klin su razvili metode
11:55
to be able to take infants, small babies,
297
703549
2568
koje omogućuju na novorođenčadi i malim bebama
11:58
and be able to use biomarkers,
298
706117
2533
koristiti biomarkere,
12:00
in this case eye contact and eye tracking,
299
708650
3338
u ovom slučaju kontakt očima i praćenje očima
12:03
to identify an infant at risk.
300
711988
2086
kako bi identificirali rizično novorođenče.
12:06
This particular infant, you can see,
301
714074
2165
Ovo određeno novorođenče, vidite,
12:08
making very good eye contact with this woman
302
716239
2201
ostvaruje jako dobar kontakt očima s ovom ženom
12:10
as she's singing "Itsy, Bitsy Spider,"
303
718440
2360
dok ona pjeva „Itsy, Bitsy Spider,“
12:12
in fact is not going to develop autism.
304
720800
3040
i ono neće razviti autizam.
12:15
This baby we know is going to be in the clear.
305
723840
2880
Ova beba koju smo upoznali će biti dobro.
12:18
On the other hand, this other baby
306
726720
2360
U drugu ruku, kod ove druge bebe
12:21
is going to go on to develop autism.
307
729080
2335
razvit će se autizam.
12:23
In this particular child, you can see,
308
731415
2227
Kod ovog djeteta, vidite,
12:25
it's not making good eye contact.
309
733642
2201
ne ostvaruje dobar kontakt očima.
12:27
Instead of the eyes focusing in
310
735843
1967
Umjesto fokusa očiju
12:29
and having that social connection,
311
737810
2278
i ostvarivanja društvenog kontakta,
12:32
looking at the mouth, looking at the nose,
312
740088
2638
gledau usta, gleda u nos,
12:34
looking off in another direction,
313
742726
1783
gleda dalje u drugom smjeru,
12:36
but not again socially connecting,
314
744509
2913
i dalje ne ostvaruje društveni kontakt,
12:39
and being able to do this on a very large scale,
315
747422
2713
i ako ovo radimo u velikom razmjeru,
12:42
screen infants, screen children for autism,
316
750135
3000
pregledavanje novorođenčadi, pregledavanje djece zbog autizma,
12:45
through something very robust, very reliable,
317
753135
2924
kroz nešto vrlo robusno, vrlo pouzdano,
12:48
is going to be very helpful to us in terms of being
318
756059
2716
bit će nam veoma korisno u smislu
12:50
able to intervene at an early stage
319
758775
2094
da ćemo moći intervenirati vrlo rano
12:52
when we can have the greatest impact.
320
760869
3432
kada možemo imati najbolji učinak.
12:56
How are we going to intervene?
321
764301
2246
Kako ćemo intervenirati?
12:58
It's probably going to be a combination of factors.
322
766547
2830
To će vjerojatno biti kombinacija faktora.
13:01
In part, in some individuals,
323
769377
2039
Djelomično, kod nekih pojedinaca
13:03
we're going to try and use medications.
324
771416
1879
ćemo pokušati koristiti lijekove.
13:05
And so in fact, identifying the genes for autism
325
773295
2722
I zapravo, detekcija gena za autizam
13:08
is important for us
326
776017
1526
je važna za nas
13:09
to identify drug targets,
327
777543
1866
kako bi identificirali cilj lijeka,
13:11
to identify things that we might be able to impact
328
779409
2623
kako bi identificirali ono na što možemo utjecati
13:14
and can be certain that that's really
329
782032
1698
i biti sigurni da je to upravo
13:15
what we need to do in autism.
330
783730
1695
ono što trebamo činiti u autizmu.
13:17
But that's not going to be the only answer.
331
785425
2741
Ali to neće biti jedini odgovor.
13:20
Beyond just drugs, we're going
to use educational strategies.
to use educational strategies.
332
788166
3510
Osim lijekova koristit ćemo
edukacijske strategije.
edukacijske strategije.
13:23
Individuals with autism,
333
791676
1275
Pojedinci s autizmom,
13:24
some of them are wired a little bit differently.
334
792951
2297
neki od njih imaju drugačije neuronske mreže.
13:27
They learn in a different way.
335
795248
1859
Uče na drugačiji način.
13:29
They absorb their surroundings in a different way,
336
797107
2334
Upijaju okolinu na drugačiji način,
13:31
and we need to be able to educate them
337
799441
2219
i trebamo ih učiti
13:33
in a way that serves them best.
338
801660
3093
na način koji je najbolji za njih.
13:36
Beyond that, there are a lot of individuals
339
804753
1918
Osim toga, ovdje postoji mnogo pojedinaca
13:38
in this room who have great ideas
340
806671
2146
u ovoj prostoriji koji imaju velike ideje
13:40
in terms of new technologies we can use,
341
808817
2544
govoreći o novim tehnologijama koje možemo koristiti
13:43
everything from devices we can use to train the brain
342
811361
3119
sve od uređaja koje možemo koristiti za treniranje mozga
13:46
to be able to make it more efficient
343
814480
1549
kako bi bio učinkovitiji
13:48
and to compensate for areas in which
344
816029
1673
i nadomjestiti za dijelove u kojima
13:49
it has a little bit of trouble,
345
817702
1594
ima malo problema,
13:51
to even things like Google Glass.
346
819296
2279
pa čak i stvari poput Google naočala.
13:53
You could imagine, for instance, Gabriel,
347
821575
1784
Možete zamisliti,na primjer Gabriela
13:55
with his social awkwardness,
348
823359
1821
s njegovom društvenom nespretnošću,
13:57
might be able to wear Google Glass
349
825180
1458
možda može nositi Google naočale
13:58
with an earpiece in his ear,
350
826638
1531
sa slušalicama u ušima,
14:00
and have a coach be able to help him,
351
828169
1927
i tako mu trener može pomoći
14:02
be able to help think about conversations,
352
830096
2658
može pomoći da razmišlja o razgovorima,
14:04
conversation-starters,
353
832754
1316
započinjanju razgovora,
14:06
being able to even perhaps one day
354
834070
2111
možda će jednog dana čak moći
14:08
invite a girl out on a date.
355
836181
2368
pitati djevojku za spoj.
14:10
All of these new technologies
356
838549
2212
Sve ove nove tehnologije
14:12
just offer tremendous opportunities
357
840761
2006
nam daju odlične prilike
14:14
for us to be able to impact
358
842767
1905
za ostvarivanje učinka
14:16
the individuals with autism,
359
844672
2685
kod pojedinaca s autizmom,
14:19
but yet we have a long way to go.
360
847357
2536
ali još smo na dugačkom putu.
14:21
As much as we know,
361
849893
1310
Koliko god da znamo,
14:23
there is so much more that we don't know,
362
851203
2957
postoji puno toga što ne znamo,
14:26
and so I invite all of you
363
854160
2133
i zato vas sve pozivam
14:28
to be able to help us think about
364
856293
2242
da nam pomognete razmisliti o
14:30
how to do this better,
365
858535
1411
tome kako ovo učiniti bolje,
14:31
to use as a community our collective wisdom
366
859946
2879
da kao društvo koristimo zajedničku mudrost
14:34
to be able to make a difference,
367
862825
1806
kako bi došlo do promjene,
14:36
and in particular,
368
864631
1257
točnije
14:37
for the individuals in families with autism,
369
865888
2704
za pojedince u obiteljima s autizmom,
14:40
I invite you to join the interactive autism network,
370
868592
3255
pozivam vas da se uključite u interaktivnu mrežu autizma,
14:43
to be part of the solution to this,
371
871847
2194
da budete dio rješenja
14:46
because it's going to take really a lot of us
372
874041
2879
jer trebat će stvarno puno nas
14:48
to think about what's important,
373
876920
2270
kako bi razmislili što je to bitno,
14:51
what's going to be a meaningful difference.
374
879190
1925
što će biti bitna razlika.
14:53
As we think about something
375
881115
1505
Dok razmišljamo o nečem,
14:54
that's potentially a solution,
376
882620
1832
što je potencijalno rješenje,
14:56
how well does it work?
377
884452
1659
koliko je to uspješno?
14:58
Is it something that's really
going to make a difference
going to make a difference
378
886111
1948
Je li to nešto što će stvarno napraviti razliku
15:00
in your lives, as an individual,
379
888059
2369
u vašim životima, kao pojedinca,
15:02
as a family with autism?
380
890428
1653
kao obitelji s autizmom?
15:04
We're going to need individuals of all ages,
381
892081
2420
Trebat će nam pojedinci svih uzrasta,
15:06
from the young to the old,
382
894501
1727
od mladih do starih,
15:08
and with all different shapes and sizes
383
896228
2159
sa različitim oblicima i veličinama
15:10
of the autism spectrum disorder
384
898387
1837
spektra autističnog poremećaja
15:12
to make sure that we can have an impact.
385
900224
2176
kako bi bili sigurni da ostvarujemo učinak.
15:14
So I invite all of you to join the mission
386
902400
2205
Pozivam vas se da se priključite misiji
15:16
and to help to be able to make the lives
387
904605
2974
i pomognete da učinimo živote
15:19
of individuals with autism
388
907579
1686
pojedinaca s autizmom
15:21
so much better and so much richer.
389
909265
1931
mnogo boljima i bogatijima.
15:23
Thank you.
390
911196
2725
Hvala vam.
15:25
(Applause)
391
913921
4000
(Pljesak)
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