ABOUT THE SPEAKER
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.

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.

More profile about the speaker
Wendy Chung | Speaker | TED.com
TED2014

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

溫蒂.張: 自閉症──所知的(和未知的)?

Filmed:
3,896,604 views

在這個以事實為基礎的演講里,遺傳學家溫蒂.張帶我們了解自閉症譜系障礙的最新發現:比如,自閉症有多重、甚至可能連鎖的病因。在自閉症診斷所帶來的憂慮和擔心以外,張博士和她的團隊關注的是研究、治療,和傾聽如何增強我們對自閉症的認知。
- 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

Double-click the English transcript below to play the video.

00:12
"Why?"
0
722
1509
為什麼?
(Wendy Chung 溫蒂.張)
00:14
"Why?" is a question
1
2231
1458
父母們總是問我這個問題。
(Wendy Chung 溫蒂.張)
00:15
that parents父母 ask me all the time.
2
3689
2636
00:18
"Why did my child兒童 develop發展 autism自閉症?"
3
6325
2847
“為什麼我的孩子會有自閉症?”
(2014年3月 溫哥華卑詩省)
00:21
As a pediatrician兒科醫師, as a geneticist遺傳學家, as a researcher研究員,
4
9172
4454
作為一名兒科醫生、遺傳學家、研究員,
00:25
we try and address地址 that question.
5
13626
2443
我們想要找到這個問題的答案。
00:28
But autism自閉症 is not a single condition條件.
6
16069
1949
自閉症的病狀體現不是單一的,
00:30
It's actually其實 a spectrum光譜 of disorders障礙,
7
18018
2715
(自閉症譜系)
它可以是一系列的病狀。
00:32
a spectrum光譜 that ranges範圍, for instance,
8
20733
2534
自閉症的表現多樣,舉個例子:
00:35
from Justin賈斯汀, a 13-year-old-歲 boy男孩
9
23267
2673
13歲少年:Justin,
00:37
who's誰是 not verbal口頭, who can't speak說話,
10
25940
3223
他不太會表達、不能講話,
00:41
who communicates相通 by using運用 an iPadiPad的
11
29163
1962
他通過iPad和人溝通,
00:43
to touch觸摸 pictures圖片 to communicate通信
12
31125
1898
他用碰觸圖片
來表達他的想法和意見。
00:45
his thoughts思念 and his concerns關注,
13
33023
2151
00:47
a little boy男孩 who, when he gets得到 upset煩亂,
14
35174
2411
當這個男孩子不高興時,
00:49
will start開始 rocking搖擺,
15
37585
1648
他會開始前後搖擺,
00:51
and eventually終於, when he's disturbed不安 enough足夠,
16
39233
1597
如果他受到更大的刺激,
00:52
will bang his head to the point
17
40830
1603
他會開始用頭撞東西,
00:54
that he can actually其實 cut it open打開 and require要求 stitches.
18
42433
3842
甚至頭破血流,嚴重到需要縫針。
00:58
That same相同 diagnosis診斷 of autism自閉症, though雖然,
19
46275
2615
同樣的,Gabriel也被判定為自閉症患者。
01:00
also applies適用 to Gabriel加布里埃爾,
20
48890
1922
01:02
another另一個 13-year-old-歲 boy男孩
21
50812
1967
他也是13歲,
01:04
who has quite相當 a different不同 set of challenges挑戰.
22
52779
2695
不過他的問題和Justin截然不同。
01:07
He's actually其實 quite相當 remarkably異常 gifted天才 in mathematics數學.
23
55474
3114
他是一位數學神童,
01:10
He can multiple three numbers數字 by three numbers數字
24
58588
2021
他可以輕而易舉地
心算三位數的乘法
01:12
in his head with ease緩解,
25
60609
1787
01:14
yet然而 when it comes to trying to have a conversation會話,
26
62396
3758
不過,當他與人聊天時,
01:18
he has great difficulty困難.
27
66154
2061
他就一團糟了。
01:20
He doesn't make eye contact聯繫.
28
68215
2059
他不會和人有目光接觸,
01:22
He has difficulty困難 starting開始 a conversation會話,
29
70274
2123
他很難開啟話匣子,
01:24
feels感覺 awkward尷尬,
30
72397
1735
感覺不自在,
01:26
and when he gets得到 nervous緊張,
31
74132
1818
當他緊張時,
01:27
he actually其實 shuts啟閉 down.
32
75950
1725
他就開始封閉自己了。
01:29
Yet然而 both of these boys男孩
33
77675
1482
不過這兩個男孩子
都被診斷為自閉症譜系障礙。
01:31
have the same相同 diagnosis診斷 of
autism自閉症 spectrum光譜 disorder紊亂.
34
79157
4184
(自閉症譜系障礙)
01:35
One of the things that concerns關注 us
35
83341
2428
我們非常擔心的是:
01:37
is whether是否 or not there really is
36
85769
1597
自閉症到底是不是一種流行病?
01:39
an epidemic疫情 of autism自閉症.
37
87366
1973
01:41
These days, one in 88 children孩子
38
89339
2480
現今,每88個兒童裡
就會有一個被診斷有自閉症。
01:43
will be diagnosed確診 with autism自閉症,
39
91819
2042
01:45
and the question is,
40
93861
1473
我們想知道的是:為什麼
我們的圖表有這樣的趨勢?
01:47
why does this graph圖形 look this way?
41
95334
2003
01:49
Has that number been increasing增加
42
97337
1967
是因為得了自閉症的孩子
在近年急劇增長?
01:51
dramatically顯著 over time?
43
99304
1934
01:53
Or is it because we have now started開始 labeling標籤
44
101238
4531
(自閉症實際上沒有圖表所顯示的巨大增加)
還是因為我們的診斷方式包括了更多人?
01:57
individuals個人 with autism自閉症,
45
105769
1562
01:59
simply只是 giving them a diagnosis診斷
46
107331
2248
(紅線:殘障教育法案)
我們現在把一種症狀歸類為自閉症,
02:01
when they were still present當下 there before
47
109579
2553
02:04
yet然而 simply只是 didn't have that label標籤?
48
112132
2393
不過之前卻沒有把這種症狀視為自閉症。
02:06
And in fact事實, in the late晚了 1980s, the early 1990s,
49
114525
3991
在80年代末,90年代初期,
02:10
legislation立法 was passed通過
50
118516
1410
立法通過讓患有自閉症的人群
02:11
that actually其實 provided提供 individuals個人 with autism自閉症
51
119926
2639
02:14
with resources資源, with access訪問 to educational教育性 materials物料
52
122565
3726
有足夠的資源、有條件接受教育,
02:18
that would help them.
53
126291
1772
從中得益。
02:20
With that increased增加 awareness意識, more parents父母,
54
128063
3488
社會對自閉症更多的重視,讓父母、
02:23
more pediatricians兒科醫生, more educators教育工作者
55
131551
2746
兒科醫師、教學人員
02:26
learned學到了 to recognize認識 the features特徵 of autism自閉症.
56
134297
3255
熟悉如何識別自閉症的特征。
02:29
As a result結果 of that, more individuals個人 were diagnosed確診
57
137552
4010
因此,更多的人被診斷有自閉症
02:33
and got access訪問 to the resources資源 they needed需要.
58
141562
3188
並得到他們所需要的幫助。
02:36
In addition加成, we've我們已經 changed our definition定義 over time,
59
144750
3432
另外,我們對自閉症的定義
也隨著時間改變,
02:40
so in fact事實 we've我們已經 widened加寬 the definition定義 of autism自閉症,
60
148182
3138
事實上,我們拓寬了對自閉症的定義,
02:43
and that accounts賬戶 for some of
61
151320
1120
主要是因為我們看到
某種病狀日趨增加。
02:44
the increased增加 prevalence流行 that we see.
62
152440
3015
02:47
The next下一個 question everyone大家 wonders奇蹟 is,
63
155455
2660
那麼下一個人人都關注的問題就是:
02:50
what caused造成 autism自閉症?
64
158115
1776
什麼導致自閉症?
02:51
And a common共同 misconception誤解
65
159891
2895
以及最大的誤區:
02:54
is that vaccines疫苗 cause原因 autism自閉症.
66
162786
2784
疫苗會造成自閉症。
02:57
But let me be very clear明確:
67
165570
3051
讓我清楚地告訴各位:
03:00
Vaccines疫苗 do not cause原因 autism自閉症.
68
168621
4487
疫苗不會造成自閉症。
03:05
(Applause掌聲)
69
173108
6704
(鼓掌)
03:11
In fact事實, the original原版的 research研究 study研究
70
179812
2123
事實上,最初聲稱疫苗造成自閉症的報告
03:13
that suggested建議 that was the case案件
71
181935
1999
03:15
was completely全然 fraudulent騙人的.
72
183934
2875
完全是假的。
03:18
It was actually其實 retracted縮回 from the journal日誌 Lancet柳葉刀,
73
186809
3176
這個報告被其發表的科刊《Lancet》收回
03:21
in which哪一個 it was published發表,
74
189985
1592
03:23
and that author作者, a physician醫師,
75
191577
1890
它的作者被吊銷了他的行醫執照。
03:25
had his medical license執照 taken採取 away from him.
76
193467
3254
03:28
(Applause掌聲)
77
196721
3954
(鼓掌)
03:32
The Institute研究所 of Medicine醫學,
78
200675
1582
美國醫學研究院、
03:34
The Centers中心 for Disease疾病 Control控制,
79
202257
1563
疾病控制中心
03:35
have repeatedly反复 investigated調查 this
80
203820
2344
已經做過重複的調查,
03:38
and there is no credible可信的 evidence證據
81
206164
3607
都沒有發現任何可靠的證據表明
03:41
that vaccines疫苗 cause原因 autism自閉症.
82
209771
2685
疫苗會造成自閉症。
03:44
Furthermore此外,
83
212456
1637
(疫苗不會導致自閉症)
此外,
03:46
one of the ingredients配料 in vaccines疫苗,
84
214093
2469
疫苗的成份之一:
03:48
something called thimerosal硫柳汞,
85
216562
2052
硫柳汞
03:50
was thought to be what the cause原因 of autism自閉症 was.
86
218614
3316
曾被認為會造成自閉症,
03:53
That was actually其實 removed去除 from vaccines疫苗
87
221930
2263
但在1992年已經從疫苗中移除。
03:56
in the year 1992,
88
224193
1725
03:57
and you can see that it really did not have an effect影響
89
225918
3044
你可以發現,它和自閉症之後的發展
04:00
in what happened發生 with the prevalence流行 of autism自閉症.
90
228962
2639
沒有任何關聯。
04:03
So again, there is no evidence證據
91
231601
1733
因此,沒有任何證據表明
疫苗和自閉症有個。
04:05
that this is the answer回答.
92
233334
2082
所以問題來了:是什麼造成自閉症?
04:07
So the question remains遺跡, what does cause原因 autism自閉症?
93
235416
4143
事實上,我們沒有一個單一的答案。
04:11
In fact事實, there's probably大概 not one single answer回答.
94
239559
2831
04:14
Just as autism自閉症 is a spectrum光譜,
95
242390
1757
自閉症包括一系列的病情
04:16
there's a spectrum光譜 of etiologies病因,
96
244147
2190
它的病原也不是單一的。
04:18
a spectrum光譜 of causes原因.
97
246337
1652
04:19
Based基於 on epidemiological流行病學 data數據,
98
247989
1991
流行病學的數據顯示
(什麼造成自閉症)
04:21
we know that one of the causes原因,
99
249980
1793
我們知道其中一個原因
04:23
or one of the associations協會, I should say,
100
251773
2157
或者應該說關聯
04:25
is advanced高級 paternal父親的 age年齡,
101
253930
2284
和父親的高齡有關。
04:28
that is, increasing增加 age年齡 of the father父親
102
256214
1937
就是說,在孩子受精時,
04:30
at the time of conception概念.
103
258151
2179
父親的年齡越高,越會出現自閉症。
04:32
In addition加成, another另一個 vulnerable弱勢
104
260330
2144
另外一個易受傷害
04:34
and critical危急 period in terms條款 of development發展
105
262474
2630
而格外重要的時間段:
04:37
is when the mother母親 is pregnant.
106
265104
1906
母親懷孕期間。
04:39
During that period, while
the fetal brain is developing發展,
107
267010
2990
在這段時期,嬰兒的大腦不斷發育。
04:42
we know that exposure曝光 to certain某些 agents代理
108
270000
1942
我們知道此時如受外界影響,
04:43
can actually其實 increase增加 the risk風險 of autism自閉症.
109
271942
3085
孩子將會更容易患上自閉症。
04:47
In particular特定, there's a medication藥物治療, valproic丙戊酸 acid,
110
275027
2935
特別是一種叫做丙戊酸的藥物,
04:49
which哪一個 mothers母親 with epilepsy癲癇 sometimes有時 take,
111
277962
2586
患有癲癇的孕婦有時會服用的,
04:52
we know can increase增加 that risk風險 of autism自閉症.
112
280548
3672
我們知道這個藥物
會增加患上自閉症的機率。
04:56
In addition加成, there can be some infectious傳染病 agents代理
113
284220
2299
另外,還有一些傳染病的導因,
04:58
that can also cause原因 autism自閉症.
114
286519
2900
也會造成自閉症。
05:01
And one of the things I'm going to spend
115
289419
1580
我會用很多時間跟大家講一講
05:02
a lot of time focusing調焦 on
116
290999
2061
05:05
are the genes基因 that can cause原因 autism自閉症.
117
293060
2561
基因如何造成自閉症。
05:07
I'm focusing調焦 on this not because genes基因
118
295621
2456
我的意思不是只有基因
05:10
are the only cause原因 of autism自閉症,
119
298077
2144
會造成自閉症。
05:12
but it's a cause原因 of autism自閉症
120
300221
1569
但是這個病因是我們可以完全界定的。
05:13
that we can readily容易 define確定
121
301790
1877
05:15
and be able能夠 to better understand理解 the biology生物學
122
303667
2793
我們可以更好的從生物學
05:18
and understand理解 better how the brain works作品
123
306460
2269
從大腦運作的方式明白病因。
05:20
so that we can come up with strategies策略
124
308729
1985
因此我們可以找到方法
05:22
to be able能夠 to intervene干預.
125
310714
2330
得以應對。
05:25
One of the genetic遺傳 factors因素 that we don't understand理解,
126
313044
2946
(性別之謎)
一個我們還不理解的遺傳因素
05:27
however然而, is the difference區別 that we see
127
315990
3148
是男女之間的區別。
05:31
in terms條款 of males男性 and females女性.
128
319138
1906
05:33
Males男性 are affected受影響 four to one compared相比 to females女性
129
321044
3005
男性和女性患有自閉症的比例是4:1
05:36
with autism自閉症,
130
324049
1102
05:37
and we really don't understand理解 what that cause原因 is.
131
325151
3991
我們不知道是什麼原因。
05:41
One of the ways方法 that we can understand理解
132
329142
1718
我們可以確認自閉症
05:42
that genetics遺傳學 is a factor因子
133
330860
1863
和遺傳有關的一個方式是
05:44
is by looking at something called
134
332723
1337
統計“和合率”
05:46
the concordance和諧 rate.
135
334060
1890
05:47
In other words, if one sibling兄弟 has autism自閉症,
136
335950
3188
換句話說:如果有兄弟姊妹得了自閉症,
05:51
what's the probability可能性
137
339138
1487
家中其他成員患上
自閉症的可能是多少?
05:52
that another另一個 sibling兄弟 in that family家庭 will have autism自閉症?
138
340625
3004
05:55
And we can look in particular特定
139
343629
1565
我們會看三種弟兄姊妹的情況:
05:57
at three types類型 of siblings兄弟姐妹:
140
345194
2168
05:59
identical相同 twins雙胞胎,
141
347362
1871
同卵雙胞胎,
06:01
twins雙胞胎 that actually其實 share分享 100 percent百分
142
349233
2219
雙胞胎有100%一樣的遺傳信息。
06:03
of their genetic遺傳 information信息
143
351452
1602
06:05
and shared共享 the same相同 intrauterine宮內 environment環境,
144
353054
3176
並有一樣的子宮環境。
06:08
versus fraternal兄弟 twins雙胞胎,
145
356230
2245
對比異卵雙胞胎
06:10
twins雙胞胎 that actually其實 share分享 50 percent百分
146
358475
1989
異卵雙胞胎有50%一樣的遺傳信息。
06:12
of their genetic遺傳 information信息,
147
360464
2027
06:14
versus regular定期 siblings兄弟姐妹,
148
362491
1216
再對比一般的弟兄姊妹:
06:15
brother-sister兄弟姐妹, sister-sister姐姐妹妹,
149
363707
1869
06:17
also sharing分享 50 percent百分 of their genetic遺傳 information信息,
150
365576
2868
有50%的遺傳信息,
06:20
yet然而 not sharing分享 the same相同 intrauterine宮內 environment環境.
151
368444
3079
但是沒有一樣的子宮環境。
06:23
And when you look at those concordance和諧 ratios,
152
371523
2300
當我們看“和合率“時,
06:25
one of the striking引人注目 things that you will see
153
373823
2057
我們驚奇地發現,
在同卵雙胞胎的情況下
06:27
is that in identical相同 twins雙胞胎,
154
375880
2120
如果其中一個患有自閉症,
另外一個得自閉症的概率是77%。
06:30
that concordance和諧 rate is 77 percent百分.
155
378000
3353
06:33
Remarkably異常, though雖然,
156
381353
1104
要留意的是,這不是100%。
06:34
it's not 100 percent百分.
157
382457
2148
06:36
It is not that genes基因 account帳戶
for all of the risk風險 for autism自閉症,
158
384605
4003
遺傳不是唯一造成自閉症的因素。
06:40
but yet然而 they account帳戶 for a lot of that risk風險,
159
388608
2241
但是我們知道它佔了很大的比例。
06:42
because when you look at fraternal兄弟 twins雙胞胎,
160
390849
2313
如果我們看異卵雙胞胎,
06:45
that concordance和諧 rate is only 31 percent百分.
161
393162
3076
相對的比例只有31%。
06:48
On the other hand, there is a difference區別
162
396238
1911
另外一方面,異卵雙胞胎和兄弟姊妹也有不同
06:50
between之間 those fraternal兄弟 twins雙胞胎 and the siblings兄弟姐妹,
163
398149
2943
06:53
suggesting提示 that there are common共同 exposures曝光
164
401092
2664
讓我們推測,異卵雙胞胎
所受所到的相同的影響
06:55
for those fraternal兄弟 twins雙胞胎
165
403756
1423
06:57
that may可能 not be shared共享 as commonly常用
166
405179
2117
比普通兄弟姊妹受到的要多。
06:59
with siblings兄弟姐妹 alone單獨.
167
407296
2174
07:01
So this provides提供 some of the data數據
168
409470
1686
所以這些研究給讓我們可以推論
07:03
that autism自閉症 is genetic遺傳.
169
411156
1622
自閉症是和遺傳有關的。
07:04
Well, how genetic遺傳 is it?
170
412778
1964
那么它和遺傳的關系有多大呢?
07:06
When we compare比較 it to other conditions條件
171
414742
1843
當我們那其他熟悉的病情做比較時,
07:08
that we're familiar with,
172
416585
1612
07:10
things like cancer癌症, heart disease疾病, diabetes糖尿病,
173
418197
3880
比如腫瘤、心臟病、糖尿病,
07:14
in fact事實, genetics遺傳學 plays播放 a much larger role角色 in autism自閉症
174
422077
3953
基因對自閉症的引導作用
07:18
than it does in any of these other conditions條件.
175
426030
2440
超過這些其他的疾病。
07:20
But with this, that doesn't
tell us what the genes基因 are.
176
428470
3342
即便如此,我們不知道是哪些特別的基因。
07:23
It doesn't even tell us in any one child兒童,
177
431812
2667
我們甚至不知道是孩子的一個基因,
07:26
is it one gene基因
178
434479
1661
07:28
or potentially可能 a combination組合 of genes基因?
179
436140
2256
還是一組基因造成自閉症。
07:30
And so in fact事實, in some individuals個人 with autism自閉症,
180
438396
3554
所以,某些患有自閉症的人
07:33
it is genetic遺傳!
181
441950
2514
來自遺傳!!!
07:36
That is, that it is one single,
182
444464
2230
就是一個很強大、很頑固的基因
07:38
powerful強大, deterministic確定性 gene基因
183
446694
2172
07:40
that causes原因 the autism自閉症.
184
448866
1847
造成的自閉症。
07:42
However然而, in other individuals個人,
185
450713
1794
不過,對於其他的人,
07:44
it's genetic遺傳, that is,
186
452507
1706
自閉症來自遺傳。
07:46
that it's actually其實 a combination組合 of genes基因
187
454213
3120
它可以是一組基因、
07:49
in part部分 with the developmental發展的 process處理
188
457333
2795
在嬰兒發育過程中,
07:52
that ultimately最終 determines確定 that risk風險 for autism自閉症.
189
460128
3380
多種因素最終造成自閉症的風險。
07:55
We don't know in any one person, necessarily一定,
190
463508
2870
我們不能確定某個患有自閉症的人
07:58
which哪一個 of those two answers答案 it is
191
466378
2093
是屬於以上哪一種情況,
08:00
until直到 we start開始 digging挖掘 deeper更深.
192
468471
2041
直到我們更深入的了解研究。
08:02
So the question becomes,
193
470512
1287
所以我們的問題成了:
08:03
how can we start開始 to identify鑑定
194
471799
2241
我們如何識別造成自閉症的基因?
08:06
what exactly究竟 those genes基因 are.
195
474040
1872
08:07
And let me pose提出 something
196
475912
1109
讓我提出一個不是那麼明顯的說法:
08:09
that might威力 not be intuitive直觀的.
197
477021
2190
08:11
In certain某些 individuals個人,
198
479211
2359
對於某些人來說,
08:13
they can have autism自閉症
199
481570
1724
他們可以因為遺傳而患上自閉症,
08:15
for a reason原因 that is genetic遺傳
200
483294
2453
08:17
but yet然而 not because of autism自閉症 running賽跑 in the family家庭.
201
485747
3564
但他們沒有任何自閉症的家族史。
08:21
And the reason原因 is because in certain某些 individuals個人,
202
489311
2379
為什麼呢?因為某些人的基因
08:23
they can actually其實 have genetic遺傳 changes變化 or mutations突變
203
491690
3061
出現改變或者突變,
08:26
that are not passed通過 down from the mother母親
204
494751
3043
這些突變不是從父母那裡遺傳過來的,
08:29
or from the father父親,
205
497794
1487
08:31
but actually其實 start開始 brand new in them,
206
499281
2733
卻是從孩子本身開始的:
08:34
mutations突變 that are present當下
207
502014
1587
卵子或精子所發生的突變,
08:35
in the egg or the sperm精子
208
503601
1403
08:37
at the time of conception概念
209
505004
1613
08:38
but have not been passed通過 down
210
506617
1742
這不是在家族中一代一代傳下來。
08:40
generation through通過 generation within the family家庭.
211
508359
3006
08:43
And we can actually其實 use that strategy戰略
212
511365
2181
我們就可以用這發現
08:45
to now understand理解 and to identify鑑定
213
513546
2334
去解讀和識別
08:47
those genes基因 causing造成 autism自閉症 in those individuals個人.
214
515880
3100
哪些基因造成這些人患上自閉症。
08:50
So in fact事實, at the Simons西蒙斯 Foundation基礎,
215
518980
2010
所以,在Simons基金會,
08:52
we took 2,600 individuals個人
216
520990
2726
我們找到2600位
08:55
that had no family家庭 history歷史 of autism自閉症,
217
523716
2711
沒有自閉症家族史的實驗對象。
08:58
and we took that child兒童 and their mother母親 and father父親
218
526427
3170
我們找到孩子和他們父母的基因,
09:01
and used them to try and understand理解
219
529597
2471
用這些基因嘗試明白哪些基因
09:04
what were those genes基因
220
532068
1619
09:05
causing造成 autism自閉症 in those cases?
221
533687
2318
造成自閉症。
09:08
To do that, we actually其實 had to comprehensively綜合
222
536005
3067
要達到這個目標,我們要全面地
09:11
be able能夠 to look at all that genetic遺傳 information信息
223
539072
2730
了解他們的整個基因信息,
09:13
and determine確定 what those differences分歧 were
224
541802
2182
看看孩子和父母的基因
在什麼地方出現偏差。
09:15
between之間 the mother母親, the father父親 and the child兒童.
225
543984
3701
09:19
In doing so, I apologize道歉,
226
547685
1954
先抱歉一下,要這樣做呢,
我用的方法比較老套。
09:21
I'm going to use an outdated過時的 analogy比喻
227
549639
1884
09:23
of encyclopedias百科全書 rather than Wikipedia維基百科,
228
551523
2658
我會用百科全書的比喻,不是維基百科。
09:26
but I'm going to do so to try and help make the point
229
554181
2999
我會嘗試用這個表達我的意思,
09:29
that as we did this inventory庫存,
230
557180
2358
當我們開始做他們的基因記錄時,
09:31
we needed需要 to be able能夠 to look at
231
559538
1593
我們需要處理巨量的信息。
09:33
massive大規模的 amounts of information信息.
232
561131
2173
09:35
Our genetic遺傳 information信息 is organized有組織的
233
563304
2287
我們的基因信息被整理成46卷書,
09:37
into a set of 46 volumes,
234
565591
2887
09:40
and when we did that, we had to be able能夠 to account帳戶
235
568478
1909
當我們整理時,我們需要知道
每一卷書的具體位置,
09:42
for each of those 46 volumes,
236
570387
1984
09:44
because in some cases with autism自閉症,
237
572371
1853
因為有些情況下,
09:46
there's actually其實 a single volume that's missing失踪.
238
574224
2456
可能丟失一卷書造成自閉症。
09:48
We had to get more granular粒狀 than that, though雖然,
239
576680
2310
當然我們需要更細緻一些,
09:50
and so we had to start開始 opening開盤 those books圖書,
240
578990
2320
所以我們需要打開這些書,
09:53
and in some cases, the genetic遺傳 change更改
241
581310
1880
在一些情況下,基因的改變是微妙的。
09:55
was more subtle微妙.
242
583190
1388
09:56
It might威力 have been a single
paragraph that was missing失踪,
243
584578
3186
可能是某頁的一段話不見了,
09:59
or yet然而, even more subtle微妙 than that,
244
587764
3278
甚至更細微,
10:03
a single letter,
245
591042
1692
一個字母!
10:04
one out of three billion十億 letters
246
592734
2802
30億個字母中的一個改變了,
10:07
that was changed, that was altered改變,
247
595536
2274
10:09
yet然而 had profound深刻 effects效果
248
597810
1597
造成對大腦、對行為的深遠影響。
10:11
in terms條款 of how the brain functions功能
249
599407
1913
10:13
and affects影響 behavior行為.
250
601320
1817
10:15
In doing this within these families家庭,
251
603137
2377
(Simons 單一取樣發現
25%自閉症是由全新的變異造成的)
通過和這些家庭的基因做對比,
10:17
we were able能夠 to account帳戶 for approximately
252
605514
2318
我們發現大約有
10:19
25 percent百分 of the individuals個人
253
607832
2325
25%的患者是因為單一的,重要的
10:22
and determine確定 that there was a single
254
610157
2547
10:24
powerful強大 genetic遺傳 factor因子
255
612704
2196
10:26
that caused造成 autism自閉症 within those families家庭.
256
614900
3124
基因因素而造成他們的自閉症。
10:30
On the other hand, there's 75 percent百分
257
618024
2252
另外一方面,我們還不知道
其他75%是什麼具體情況。
10:32
that we still haven't沒有 figured想通 out.
258
620276
2451
10:34
As we did this, though雖然,
259
622727
1470
整個研究過程,
10:36
it was really quite相當 humbling震撼人心,
260
624197
2094
真的叫我們謙卑自抑,
10:38
because we realized實現 that there was not simply只是
261
626291
2365
我們明白並非是一個基因導致自閉症。
10:40
one gene基因 for autism自閉症.
262
628656
1941
10:42
In fact事實, the current當前 estimates估計 are
263
630597
1749
事實上,我們現在的推測表明:
10:44
that there are 200 to 400 different不同 genes基因
264
632346
2752
至少有200-400個基因
會造成自閉症。
10:47
that can cause原因 autism自閉症.
265
635098
1892
10:48
And that explains說明, in part部分,
266
636990
1369
這樣間接解釋了為什麼
10:50
why we see such這樣 a broad廣闊 spectrum光譜
267
638359
2117
自閉症可以有一系列的病狀。
10:52
in terms條款 of its effects效果.
268
640476
2043
10:54
Although雖然 there are that many許多 genes基因,
269
642519
2225
雖然有很多的基因,
10:56
there is some method方法 to the madness瘋狂.
270
644744
2348
其實還是有跡可循的。
10:59
It's not simply只是 random隨機
271
647092
1948
這200-400個基因並非胡亂孤立的。
11:01
200, 400 different不同 genes基因,
272
649040
2230
11:03
but in fact事實 they fit適合 together一起.
273
651270
1794
它們是互相關聯的。
11:05
They fit適合 together一起 in a pathway.
274
653064
1866
它們是一條道上的,
11:06
They fit適合 together一起 in a network網絡
275
654930
1472
它們有組織,
11:08
that's starting開始 to make sense now
276
656402
1832
讓我們明白原因,
11:10
in terms條款 of how the brain functions功能.
277
658234
2698
找到大腦是如何運作的。
11:12
We're starting開始 to have a bottom-up自下而上 approach途徑
278
660932
2146
我們開始追根尋源,識別這些基因,
11:15
where we're identifying識別 those genes基因,
279
663078
1709
11:16
those proteins蛋白質, those molecules分子,
280
664787
2478
這些蛋白質、這些分子,
11:19
understanding理解 how they interact相互作用 together一起
281
667265
1910
了解它們如何互動,
11:21
to make that neuron神經元 work,
282
669175
1397
讓神經元正常運作,
11:22
understanding理解 how those neurons神經元 interact相互作用 together一起
283
670572
2737
然後瞭解神經元如何合作,
11:25
to make circuits電路 work,
284
673309
1219
影響某些大腦連接,
11:26
and understand理解 how those circuits電路 work
285
674528
2016
而大腦的神經連接是如何被影響
11:28
to now control控制 behavior行為,
286
676544
1826
人的行為舉止:
11:30
and understand理解 that both in individuals個人 with autism自閉症
287
678370
2800
患有自閉症的人是什麼樣的,
11:33
as well as individuals個人 who have normal正常 cognition認識.
288
681170
3901
有正常的認知的人是什麼樣的。
11:37
But early diagnosis診斷 is a key for us.
289
685071
2458
前期診斷對我們來說至關重要,
11:39
Being存在 able能夠 to make that diagnosis診斷
290
687529
1959
如果可以提早診斷
有患上自閉症風險的人,
11:41
of someone有人 who's誰是 susceptible易感
291
689488
1507
11:42
at a time in a window窗口
292
690995
2055
我們就有時間幫助他們改變,
11:45
where we have the ability能力 to transform轉變,
293
693050
2347
能夠改變他們正在發育的大腦
起著決定性作用。
11:47
to be able能夠 to impact碰撞
294
695397
1603
11:49
that growing生長, developing發展 brain is critical危急.
295
697000
2740
11:51
And so folks鄉親 like Ami阿美 Klin克林 have developed發達 methods方法
296
699740
3809
像Ami Klin這樣的研究員開發出一些方法
11:55
to be able能夠 to take infants嬰兒, small babies嬰兒,
297
703549
2568
用在嬰兒和幼童上,
11:58
and be able能夠 to use biomarkers生物標記物,
298
706117
2533
通過生物標誌,
12:00
in this case案件 eye contact聯繫 and eye tracking追踪,
299
708650
3338
比如這個是用了
目光接觸和眼球追蹤,
12:03
to identify鑑定 an infant嬰兒 at risk風險.
300
711988
2086
看看嬰兒是否有患有自閉症的風險。
12:06
This particular特定 infant嬰兒, you can see,
301
714074
2165
你看到的這個嬰兒
12:08
making製造 very good eye contact聯繫 with this woman女人
302
716239
2201
和這位女士有很好的目光接觸
12:10
as she's singing唱歌 "ItsyItsy, Bitsybitsy的 Spider蜘蛛,"
303
718440
2360
她在唱兒歌:小小蜘蛛
12:12
in fact事實 is not going to develop發展 autism自閉症.
304
720800
3040
這個嬰兒不會患上自閉症。
12:15
This baby寶寶 we know is going to be in the clear明確.
305
723840
2880
這個嬰兒我們知道是沒問題的。
12:18
On the other hand, this other baby寶寶
306
726720
2360
不過,另外的這個孩子,
12:21
is going to go on to develop發展 autism自閉症.
307
729080
2335
將會患上自閉症。
12:23
In this particular特定 child兒童, you can see,
308
731415
2227
你可以發現這個孩子
12:25
it's not making製造 good eye contact聯繫.
309
733642
2201
不能保持很好的目光接觸,
12:27
Instead代替 of the eyes眼睛 focusing調焦 in
310
735843
1967
嬰兒沒有注視,
沒有在女士的眼神上進行交流,
12:29
and having that social社會 connection連接,
311
737810
2278
12:32
looking at the mouth, looking at the nose鼻子,
312
740088
2638
而是看看嘴巴,看看鼻子
12:34
looking off in another另一個 direction方向,
313
742726
1783
看別的方向,
12:36
but not again socially社交上 connecting,
314
744509
2913
不能保持社交交流。
12:39
and being存在 able能夠 to do this on a very large scale規模,
315
747422
2713
通過這樣的方法,
12:42
screen屏幕 infants嬰兒, screen屏幕 children孩子 for autism自閉症,
316
750135
3000
我們能夠檢查大批的嬰兒,
檢定他們自閉症的風險,
12:45
through通過 something very robust強大的, very reliable可靠,
317
753135
2924
這些方法很有效也很可靠。
12:48
is going to be very helpful有幫助 to us in terms條款 of being存在
318
756059
2716
它們將幫助
12:50
able能夠 to intervene干預 at an early stage階段
319
758775
2094
在自閉症剛開始的時期介入,
12:52
when we can have the greatest最大 impact碰撞.
320
760869
3432
這個階段是最容易看到成效的。
12:56
How are we going to intervene干預?
321
764301
2246
我們如何介入呢?
12:58
It's probably大概 going to be a combination組合 of factors因素.
322
766547
2830
這應該會是綜合不同方式的。
13:01
In part部分, in some individuals個人,
323
769377
2039
對於一些人,
13:03
we're going to try and use medications藥物治療.
324
771416
1879
我們會使用藥物,
13:05
And so in fact事實, identifying識別 the genes基因 for autism自閉症
325
773295
2722
所以找到影響自閉症的基因
是至關重要的,
13:08
is important重要 for us
326
776017
1526
13:09
to identify鑑定 drug藥物 targets目標,
327
777543
1866
這能找到藥物的目標。
13:11
to identify鑑定 things that we might威力 be able能夠 to impact碰撞
328
779409
2623
識別出那些我們可能影響的,
13:14
and can be certain某些 that that's really
329
782032
1698
這就是我們針對自閉症將要做的。
13:15
what we need to do in autism自閉症.
330
783730
1695
13:17
But that's not going to be the only answer回答.
331
785425
2741
藥物不是我們唯一的答案。
13:20
Beyond just drugs毒品, we're going
to use educational教育性 strategies策略.
332
788166
3510
我們將會在教育方式上不斷加強。
13:23
Individuals個人 with autism自閉症,
333
791676
1275
患有自閉症的人,
13:24
some of them are wired有線 a little bit differently不同.
334
792951
2297
他們的思維可能很不相同。
13:27
They learn學習 in a different不同 way.
335
795248
1859
他們學習的方式不一樣。
13:29
They absorb吸收 their surroundings環境 in a different不同 way,
336
797107
2334
他們對周圍的觀察認知也不一樣,
13:31
and we need to be able能夠 to educate教育 them
337
799441
2219
所以我們需要給予他們
最適當的教育。
13:33
in a way that serves供應 them best最好.
338
801660
3093
13:36
Beyond that, there are a lot of individuals個人
339
804753
1918
在座的各位想必也有很多好的點子,
13:38
in this room房間 who have great ideas思路
340
806671
2146
13:40
in terms條款 of new technologies技術 we can use,
341
808817
2544
可能通過新的科技,
13:43
everything from devices設備 we can use to train培養 the brain
342
811361
3119
不管是通過儀器去鍛煉大腦,
13:46
to be able能夠 to make it more efficient高效
343
814480
1549
讓它更有效,
13:48
and to compensate補償 for areas in which哪一個
344
816029
1673
為大腦某些不擅長的地方揚長避短。
13:49
it has a little bit of trouble麻煩,
345
817702
1594
13:51
to even things like Google谷歌 Glass玻璃.
346
819296
2279
我們甚至可以用谷歌眼鏡。
13:53
You could imagine想像, for instance, Gabriel加布里埃爾,
347
821575
1784
想象一下Gabriel:
13:55
with his social社會 awkwardness重倉股,
348
823359
1821
他在社交上害羞。
13:57
might威力 be able能夠 to wear穿 Google谷歌 Glass玻璃
349
825180
1458
如果他戴上Google Glass,
13:58
with an earpiece聽筒 in his ear,
350
826638
1531
戴上耳機,
14:00
and have a coach教練 be able能夠 to help him,
351
828169
1927
然後一位教練可以幫助他,
14:02
be able能夠 to help think about conversations對話,
352
830096
2658
教他如何和人聊天,
14:04
conversation-starters談話起動器,
353
832754
1316
如何引入話題,
14:06
being存在 able能夠 to even perhaps也許 one day
354
834070
2111
甚至有一天,
14:08
invite邀請 a girl女孩 out on a date日期.
355
836181
2368
邀一位女生出來約會。
14:10
All of these new technologies技術
356
838549
2212
這些新興科技將給我們帶來
14:12
just offer提供 tremendous巨大 opportunities機會
357
840761
2006
很大幫助,能夠幫助這些患有自閉症的人。
14:14
for us to be able能夠 to impact碰撞
358
842767
1905
14:16
the individuals個人 with autism自閉症,
359
844672
2685
14:19
but yet然而 we have a long way to go.
360
847357
2536
不過,我們要走的路還很長。
14:21
As much as we know,
361
849893
1310
我們知道很多了,
14:23
there is so much more that we don't know,
362
851203
2957
不過我們不知道的更多。
14:26
and so I invite邀請 all of you
363
854160
2133
所以我想邀請你,
14:28
to be able能夠 to help us think about
364
856293
2242
幫我們看看哪裡可以做得更好,
14:30
how to do this better,
365
858535
1411
14:31
to use as a community社區 our collective集體 wisdom智慧
366
859946
2879
我們集思廣益
14:34
to be able能夠 to make a difference區別,
367
862825
1806
就一定大有可為。
14:36
and in particular特定,
368
864631
1257
特別是這些家裡有自閉症的家庭,
14:37
for the individuals個人 in families家庭 with autism自閉症,
369
865888
2704
14:40
I invite邀請 you to join加入 the interactive互動 autism自閉症 network網絡,
370
868592
3255
我邀請你們加入自閉症互動網
14:43
to be part部分 of the solution to this,
371
871847
2194
成為尋找解決方法的一員。
14:46
because it's going to take really a lot of us
372
874041
2879
因為這需要很多人的參與:
我們每個人都需要決定什麼是重要的,
14:48
to think about what's important重要,
373
876920
2270
什麼可以帶來成效。
14:51
what's going to be a meaningful富有意義的 difference區別.
374
879190
1925
14:53
As we think about something
375
881115
1505
當我們集思廣益,
14:54
that's potentially可能 a solution,
376
882620
1832
可能會找到一些解決方法,
14:56
how well does it work?
377
884452
1659
它會有效嗎?
14:58
Is it something that's really
going to make a difference區別
378
886111
1948
它能改變你的生活嗎?
15:00
in your lives生活, as an individual個人,
379
888059
2369
不論你患有自閉症,還是你的家人有自閉症。
15:02
as a family家庭 with autism自閉症?
380
890428
1653
15:04
We're going to need individuals個人 of all ages年齡,
381
892081
2420
我們需要不同年齡層的人,
15:06
from the young年輕 to the old,
382
894501
1727
年輕人到年長人士,
15:08
and with all different不同 shapes形狀 and sizes大小
383
896228
2159
有不同自閉症病狀特征的,
15:10
of the autism自閉症 spectrum光譜 disorder紊亂
384
898387
1837
15:12
to make sure that we can have an impact碰撞.
385
900224
2176
有了這些才可以讓我們的努力有效果。
15:14
So I invite邀請 all of you to join加入 the mission任務
386
902400
2205
所以我邀請諸位加入這項征途,
15:16
and to help to be able能夠 to make the lives生活
387
904605
2974
讓患有自閉症的人們,
15:19
of individuals個人 with autism自閉症
388
907579
1686
在生活上更美、更好。
15:21
so much better and so much richer更豐富.
389
909265
1931
15:23
Thank you.
390
911196
2725
謝謝。
15:25
(Applause掌聲)
391
913921
4000
(鼓掌)
Translated by Neoh Yi Yuan
Reviewed by Yi Fei

▲Back to top

ABOUT THE SPEAKER
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.

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.

More profile about the speaker
Wendy Chung | Speaker | TED.com