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

譯者: Neoh Yi Yuan 審譯者: Yi Fei

"Why?"

為什麼？ （Wendy Chung 溫蒂.張）

"Why?" is a question

父母們總是問我這個問題。 （Wendy Chung 溫蒂.張）

that parents ask me all the time.

"Why did my child develop autism?"

“為什麼我的孩子會有自閉症？” （2014年3月 溫哥華卑詩省）

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

作為一名兒科醫生、遺傳學家、研究員，

we try and address that question.

我們想要找到這個問題的答案。

But autism is not a single condition.

自閉症的病狀體現不是單一的，

It's actually a spectrum of disorders,

(自閉症譜系） 它可以是一系列的病狀。

a spectrum that ranges, for instance,

自閉症的表現多樣，舉個例子：

from Justin, a 13-year-old boy

13歲少年：Justin，

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

他不太會表達、不能講話，

who communicates by using an iPad

他通過iPad和人溝通，

to touch pictures to communicate

他用碰觸圖片 來表達他的想法和意見。

his thoughts and his concerns,

a little boy who, when he gets upset,

當這個男孩子不高興時，

will start rocking,

他會開始前後搖擺，

and eventually, when he's disturbed enough,

如果他受到更大的刺激，

will bang his head to the point

他會開始用頭撞東西，

that he can actually cut it open and require stitches.

甚至頭破血流，嚴重到需要縫針。

That same diagnosis of autism, though,

同樣的，Gabriel也被判定為自閉症患者。

also applies to Gabriel,

another 13-year-old boy

他也是13歲，

who has quite a different set of challenges.

不過他的問題和Justin截然不同。

He's actually quite remarkably gifted in mathematics.

他是一位數學神童，

He can multiple three numbers by three numbers

他可以輕而易舉地 心算三位數的乘法

in his head with ease,

yet when it comes to trying to have a conversation,

不過，當他與人聊天時，

he has great difficulty.

他就一團糟了。

He doesn't make eye contact.

他不會和人有目光接觸，

He has difficulty starting a conversation,

他很難開啟話匣子，

feels awkward,

感覺不自在，

and when he gets nervous,

當他緊張時，

he actually shuts down.

他就開始封閉自己了。

Yet both of these boys

不過這兩個男孩子 都被診斷為自閉症譜系障礙。

have the same diagnosis of autism spectrum disorder.

（自閉症譜系障礙）

One of the things that concerns us

我們非常擔心的是：

is whether or not there really is

自閉症到底是不是一種流行病？

an epidemic of autism.

These days, one in 88 children

現今，每88個兒童裡 就會有一個被診斷有自閉症。

will be diagnosed with autism,

and the question is,

我們想知道的是：為什麼 我們的圖表有這樣的趨勢？

why does this graph look this way?

Has that number been increasing

是因為得了自閉症的孩子 在近年急劇增長？

dramatically over time?

Or is it because we have now started labeling

(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？

individuals with autism,

simply giving them a diagnosis

(紅線：殘障教育法案） 我們現在把一種症狀歸類為自閉症，

when they were still present there before

yet simply didn't have that label?

不過之前卻沒有把這種症狀視為自閉症。

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

在80年代末，90年代初期，

legislation was passed

立法通過讓患有自閉症的人群

that actually provided individuals with autism

with resources, with access to educational materials

有足夠的資源、有條件接受教育，

that would help them.

從中得益。

With that increased awareness, more parents,

社會對自閉症更多的重視，讓父母、

more pediatricians, more educators

兒科醫師、教學人員

learned to recognize the features of autism.

熟悉如何識別自閉症的特征。

As a result of that, more individuals were diagnosed

因此，更多的人被診斷有自閉症

and got access to the resources they needed.

並得到他們所需要的幫助。

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

另外，我們對自閉症的定義 也隨著時間改變，

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

事實上，我們拓寬了對自閉症的定義，

and that accounts for some of

主要是因為我們看到 某種病狀日趨增加。

the increased prevalence that we see.

The next question everyone wonders is,

那麼下一個人人都關注的問題就是：

what caused autism?

什麼導致自閉症？

And a common misconception

以及最大的誤區：

is that vaccines cause autism.

疫苗會造成自閉症。

But let me be very clear:

讓我清楚地告訴各位：

Vaccines do not cause autism.

疫苗不會造成自閉症。

(Applause)

（鼓掌）

In fact, the original research study

事實上，最初聲稱疫苗造成自閉症的報告

that suggested that was the case

was completely fraudulent.

完全是假的。

It was actually retracted from the journal Lancet,

這個報告被其發表的科刊《Lancet》收回

in which it was published,

and that author, a physician,

它的作者被吊銷了他的行醫執照。

had his medical license taken away from him.

(Applause)

（鼓掌）

The Institute of Medicine,

美國醫學研究院、

The Centers for Disease Control,

疾病控制中心

have repeatedly investigated this

已經做過重複的調查，

and there is no credible evidence

都沒有發現任何可靠的證據表明

that vaccines cause autism.

疫苗會造成自閉症。

Furthermore,

（疫苗不會導致自閉症） 此外，

one of the ingredients in vaccines,

疫苗的成份之一：

something called thimerosal,

硫柳汞

was thought to be what the cause of autism was.

曾被認為會造成自閉症，

That was actually removed from vaccines

但在1992年已經從疫苗中移除。

in the year 1992,

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

你可以發現，它和自閉症之後的發展

in what happened with the prevalence of autism.

沒有任何關聯。

So again, there is no evidence

因此，沒有任何證據表明 疫苗和自閉症有個。

that this is the answer.

So the question remains, what does cause autism?

所以問題來了：是什麼造成自閉症？

事實上，我們沒有一個單一的答案。

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

Just as autism is a spectrum,

自閉症包括一系列的病情

there's a spectrum of etiologies,

它的病原也不是單一的。

a spectrum of causes.

Based on epidemiological data,

流行病學的數據顯示 （什麼造成自閉症）

we know that one of the causes,

我們知道其中一個原因

or one of the associations, I should say,

或者應該說關聯

is advanced paternal age,

和父親的高齡有關。

that is, increasing age of the father

就是說，在孩子受精時，

at the time of conception.

父親的年齡越高，越會出現自閉症。

In addition, another vulnerable

另外一個易受傷害

and critical period in terms of development

而格外重要的時間段：

is when the mother is pregnant.

母親懷孕期間。

During that period, while the fetal brain is developing,

在這段時期，嬰兒的大腦不斷發育。

we know that exposure to certain agents

我們知道此時如受外界影響，

can actually increase the risk of autism.

孩子將會更容易患上自閉症。

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

特別是一種叫做丙戊酸的藥物，

which mothers with epilepsy sometimes take,

患有癲癇的孕婦有時會服用的，

we know can increase that risk of autism.

我們知道這個藥物 會增加患上自閉症的機率。

In addition, there can be some infectious agents

另外，還有一些傳染病的導因，

that can also cause autism.

也會造成自閉症。

And one of the things I'm going to spend

我會用很多時間跟大家講一講

a lot of time focusing on

are the genes that can cause autism.

基因如何造成自閉症。

I'm focusing on this not because genes

我的意思不是只有基因

are the only cause of autism,

會造成自閉症。

but it's a cause of autism

但是這個病因是我們可以完全界定的。

that we can readily define

and be able to better understand the biology

我們可以更好的從生物學

and understand better how the brain works

從大腦運作的方式明白病因。

so that we can come up with strategies

因此我們可以找到方法

to be able to intervene.

得以應對。

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

（性別之謎） 一個我們還不理解的遺傳因素

however, is the difference that we see

是男女之間的區別。

in terms of males and females.

Males are affected four to one compared to females

男性和女性患有自閉症的比例是4:1

with autism,

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

我們不知道是什麼原因。

One of the ways that we can understand

我們可以確認自閉症

that genetics is a factor

和遺傳有關的一個方式是

is by looking at something called

統計“和合率”

the concordance rate.

In other words, if one sibling has autism,

換句話說：如果有兄弟姊妹得了自閉症，

what's the probability

家中其他成員患上 自閉症的可能是多少?

that another sibling in that family will have autism?

And we can look in particular

我們會看三種弟兄姊妹的情況：

at three types of siblings:

identical twins,

同卵雙胞胎，

twins that actually share 100 percent

雙胞胎有100%一樣的遺傳信息。

of their genetic information

and shared the same intrauterine environment,

並有一樣的子宮環境。

versus fraternal twins,

對比異卵雙胞胎

twins that actually share 50 percent

異卵雙胞胎有50%一樣的遺傳信息。

of their genetic information,

versus regular siblings,

再對比一般的弟兄姊妹：

brother-sister, sister-sister,

also sharing 50 percent of their genetic information,

有50%的遺傳信息，

yet not sharing the same intrauterine environment.

但是沒有一樣的子宮環境。

And when you look at those concordance ratios,

當我們看“和合率“時，

one of the striking things that you will see

我們驚奇地發現， 在同卵雙胞胎的情況下

is that in identical twins,

如果其中一個患有自閉症， 另外一個得自閉症的概率是77%。

that concordance rate is 77 percent.

Remarkably, though,

要留意的是，這不是100%。

it's not 100 percent.

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

遺傳不是唯一造成自閉症的因素。

but yet they account for a lot of that risk,

但是我們知道它佔了很大的比例。

because when you look at fraternal twins,

如果我們看異卵雙胞胎，

that concordance rate is only 31 percent.

相對的比例只有31%。

On the other hand, there is a difference

另外一方面，異卵雙胞胎和兄弟姊妹也有不同

between those fraternal twins and the siblings,

suggesting that there are common exposures

讓我們推測，異卵雙胞胎 所受所到的相同的影響

for those fraternal twins

that may not be shared as commonly

比普通兄弟姊妹受到的要多。

with siblings alone.

So this provides some of the data

所以這些研究給讓我們可以推論

that autism is genetic.

自閉症是和遺傳有關的。

Well, how genetic is it?

那么它和遺傳的關系有多大呢？

When we compare it to other conditions

當我們那其他熟悉的病情做比較時，

that we're familiar with,

things like cancer, heart disease, diabetes,

比如腫瘤、心臟病、糖尿病，

in fact, genetics plays a much larger role in autism

基因對自閉症的引導作用

than it does in any of these other conditions.

超過這些其他的疾病。

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

即便如此，我們不知道是哪些特別的基因。

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

我們甚至不知道是孩子的一個基因，

is it one gene

or potentially a combination of genes?

還是一組基因造成自閉症。

And so in fact, in some individuals with autism,

所以，某些患有自閉症的人

it is genetic!

來自遺傳！！！

That is, that it is one single,

就是一個很強大、很頑固的基因

powerful, deterministic gene

that causes the autism.

造成的自閉症。

However, in other individuals,

不過，對於其他的人，

it's genetic, that is,

自閉症來自遺傳。

that it's actually a combination of genes

它可以是一組基因、

in part with the developmental process

在嬰兒發育過程中，

that ultimately determines that risk for autism.

多種因素最終造成自閉症的風險。

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

我們不能確定某個患有自閉症的人

which of those two answers it is

是屬於以上哪一種情況，

until we start digging deeper.

直到我們更深入的了解研究。

So the question becomes,

所以我們的問題成了：

how can we start to identify

我們如何識別造成自閉症的基因？

what exactly those genes are.

And let me pose something

讓我提出一個不是那麼明顯的說法：

that might not be intuitive.

In certain individuals,

對於某些人來說，

they can have autism

他們可以因為遺傳而患上自閉症，

for a reason that is genetic

but yet not because of autism running in the family.

但他們沒有任何自閉症的家族史。

And the reason is because in certain individuals,

為什麼呢？因為某些人的基因

they can actually have genetic changes or mutations

出現改變或者突變，

that are not passed down from the mother

這些突變不是從父母那裡遺傳過來的，

or from the father,

but actually start brand new in them,

卻是從孩子本身開始的：

mutations that are present

卵子或精子所發生的突變，

in the egg or the sperm

at the time of conception

but have not been passed down

這不是在家族中一代一代傳下來。

generation through generation within the family.

And we can actually use that strategy

我們就可以用這發現

to now understand and to identify

去解讀和識別

those genes causing autism in those individuals.

哪些基因造成這些人患上自閉症。

So in fact, at the Simons Foundation,

所以，在Simons基金會，

we took 2,600 individuals

我們找到2600位

that had no family history of autism,

沒有自閉症家族史的實驗對象。

and we took that child and their mother and father

我們找到孩子和他們父母的基因，

and used them to try and understand

用這些基因嘗試明白哪些基因

what were those genes

causing autism in those cases?

造成自閉症。

To do that, we actually had to comprehensively

要達到這個目標，我們要全面地

be able to look at all that genetic information

了解他們的整個基因信息，

and determine what those differences were

看看孩子和父母的基因 在什麼地方出現偏差。

between the mother, the father and the child.

In doing so, I apologize,

先抱歉一下，要這樣做呢， 我用的方法比較老套。

I'm going to use an outdated analogy

of encyclopedias rather than Wikipedia,

我會用百科全書的比喻，不是維基百科。

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

我會嘗試用這個表達我的意思，

that as we did this inventory,

當我們開始做他們的基因記錄時，

we needed to be able to look at

我們需要處理巨量的信息。

massive amounts of information.

Our genetic information is organized

我們的基因信息被整理成46卷書，

into a set of 46 volumes,

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

當我們整理時，我們需要知道 每一卷書的具體位置，

for each of those 46 volumes,

because in some cases with autism,

因為有些情況下，

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

可能丟失一卷書造成自閉症。

We had to get more granular than that, though,

當然我們需要更細緻一些，

and so we had to start opening those books,

所以我們需要打開這些書，

and in some cases, the genetic change

在一些情況下，基因的改變是微妙的。

was more subtle.

It might have been a single paragraph that was missing,

可能是某頁的一段話不見了，

or yet, even more subtle than that,

甚至更細微，

a single letter,

一個字母！

one out of three billion letters

30億個字母中的一個改變了，

that was changed, that was altered,

yet had profound effects

造成對大腦、對行為的深遠影響。

in terms of how the brain functions

and affects behavior.

In doing this within these families,

（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，

we were able to account for approximately

我們發現大約有

25 percent of the individuals

25%的患者是因為單一的，重要的

and determine that there was a single

powerful genetic factor

that caused autism within those families.

基因因素而造成他們的自閉症。

On the other hand, there's 75 percent

另外一方面，我們還不知道 其他75%是什麼具體情況。

that we still haven't figured out.

As we did this, though,

整個研究過程，

it was really quite humbling,

真的叫我們謙卑自抑，

because we realized that there was not simply

我們明白並非是一個基因導致自閉症。

one gene for autism.

In fact, the current estimates are

事實上，我們現在的推測表明：

that there are 200 to 400 different genes

至少有200-400個基因 會造成自閉症。

that can cause autism.

And that explains, in part,

這樣間接解釋了為什麼

why we see such a broad spectrum

自閉症可以有一系列的病狀。

in terms of its effects.

Although there are that many genes,

雖然有很多的基因，

there is some method to the madness.

其實還是有跡可循的。

It's not simply random

這200-400個基因並非胡亂孤立的。

200, 400 different genes,

but in fact they fit together.

它們是互相關聯的。

They fit together in a pathway.

它們是一條道上的，

They fit together in a network

它們有組織，

that's starting to make sense now

讓我們明白原因，

in terms of how the brain functions.

找到大腦是如何運作的。

We're starting to have a bottom-up approach

我們開始追根尋源，識別這些基因，

where we're identifying those genes,

those proteins, those molecules,

這些蛋白質、這些分子，

understanding how they interact together

了解它們如何互動，

to make that neuron work,

讓神經元正常運作，

understanding how those neurons interact together

然後瞭解神經元如何合作，

to make circuits work,

影響某些大腦連接，

and understand how those circuits work

而大腦的神經連接是如何被影響

to now control behavior,

人的行為舉止：

and understand that both in individuals with autism

患有自閉症的人是什麼樣的，

as well as individuals who have normal cognition.

有正常的認知的人是什麼樣的。

But early diagnosis is a key for us.

前期診斷對我們來說至關重要，

Being able to make that diagnosis

如果可以提早診斷 有患上自閉症風險的人，

of someone who's susceptible

at a time in a window

我們就有時間幫助他們改變，

where we have the ability to transform,

to be able to impact

能夠改變他們正在發育的大腦 起著決定性作用。

that growing, developing brain is critical.

And so folks like Ami Klin have developed methods

像Ami Klin這樣的研究員開發出一些方法

to be able to take infants, small babies,

用在嬰兒和幼童上，

and be able to use biomarkers,

通過生物標誌，

in this case eye contact and eye tracking,

比如這個是用了 目光接觸和眼球追蹤，

to identify an infant at risk.

看看嬰兒是否有患有自閉症的風險。

This particular infant, you can see,

你看到的這個嬰兒

making very good eye contact with this woman

和這位女士有很好的目光接觸

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

她在唱兒歌：小小蜘蛛

in fact is not going to develop autism.

這個嬰兒不會患上自閉症。

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

這個嬰兒我們知道是沒問題的。

On the other hand, this other baby

不過，另外的這個孩子，

is going to go on to develop autism.

將會患上自閉症。

In this particular child, you can see,

你可以發現這個孩子

it's not making good eye contact.

不能保持很好的目光接觸，

Instead of the eyes focusing in

嬰兒沒有注視， 沒有在女士的眼神上進行交流，

and having that social connection,

looking at the mouth, looking at the nose,

而是看看嘴巴，看看鼻子

looking off in another direction,

看別的方向，

but not again socially connecting,

不能保持社交交流。

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

通過這樣的方法，

screen infants, screen children for autism,

我們能夠檢查大批的嬰兒， 檢定他們自閉症的風險，

through something very robust, very reliable,

這些方法很有效也很可靠。

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

它們將幫助

able to intervene at an early stage

在自閉症剛開始的時期介入，

when we can have the greatest impact.

這個階段是最容易看到成效的。

How are we going to intervene?

我們如何介入呢？

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

這應該會是綜合不同方式的。

In part, in some individuals,

對於一些人，

we're going to try and use medications.

我們會使用藥物，

And so in fact, identifying the genes for autism

所以找到影響自閉症的基因 是至關重要的，

is important for us

to identify drug targets,

這能找到藥物的目標。

to identify things that we might be able to impact

識別出那些我們可能影響的，

and can be certain that that's really

這就是我們針對自閉症將要做的。

what we need to do in autism.

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

藥物不是我們唯一的答案。

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

我們將會在教育方式上不斷加強。

Individuals with autism,

患有自閉症的人，

some of them are wired a little bit differently.

他們的思維可能很不相同。

They learn in a different way.

他們學習的方式不一樣。

They absorb their surroundings in a different way,

他們對周圍的觀察認知也不一樣，

and we need to be able to educate them

所以我們需要給予他們 最適當的教育。

in a way that serves them best.

Beyond that, there are a lot of individuals

在座的各位想必也有很多好的點子，

in this room who have great ideas

in terms of new technologies we can use,

可能通過新的科技，

everything from devices we can use to train the brain

不管是通過儀器去鍛煉大腦，

to be able to make it more efficient

讓它更有效，

and to compensate for areas in which

為大腦某些不擅長的地方揚長避短。

it has a little bit of trouble,

to even things like Google Glass.

我們甚至可以用谷歌眼鏡。

You could imagine, for instance, Gabriel,

想象一下Gabriel：

with his social awkwardness,

他在社交上害羞。

might be able to wear Google Glass

如果他戴上Google Glass，

with an earpiece in his ear,

戴上耳機，

and have a coach be able to help him,

然後一位教練可以幫助他，

be able to help think about conversations,

教他如何和人聊天，

conversation-starters,

如何引入話題，

being able to even perhaps one day

甚至有一天，

invite a girl out on a date.

邀一位女生出來約會。

All of these new technologies

這些新興科技將給我們帶來

just offer tremendous opportunities

很大幫助，能夠幫助這些患有自閉症的人。

for us to be able to impact

the individuals with autism,

but yet we have a long way to go.

不過，我們要走的路還很長。

As much as we know,

我們知道很多了，

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

不過我們不知道的更多。

and so I invite all of you

所以我想邀請你，

to be able to help us think about

幫我們看看哪裡可以做得更好，

how to do this better,

to use as a community our collective wisdom

我們集思廣益

to be able to make a difference,

就一定大有可為。

and in particular,

特別是這些家裡有自閉症的家庭，

for the individuals in families with autism,

I invite you to join the interactive autism network,

我邀請你們加入自閉症互動網

to be part of the solution to this,

成為尋找解決方法的一員。

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

因為這需要很多人的參與：

to think about what's important,

我們每個人都需要決定什麼是重要的，

什麼可以帶來成效。

what's going to be a meaningful difference.

As we think about something

當我們集思廣益，

that's potentially a solution,

可能會找到一些解決方法，

how well does it work?

它會有效嗎？

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

它能改變你的生活嗎？

in your lives, as an individual,

不論你患有自閉症，還是你的家人有自閉症。

as a family with autism?

We're going to need individuals of all ages,

我們需要不同年齡層的人，

from the young to the old,

年輕人到年長人士，

and with all different shapes and sizes

有不同自閉症病狀特征的，

of the autism spectrum disorder

to make sure that we can have an impact.

有了這些才可以讓我們的努力有效果。

So I invite all of you to join the mission

所以我邀請諸位加入這項征途，

and to help to be able to make the lives

讓患有自閉症的人們，

of individuals with autism

在生活上更美、更好。

so much better and so much richer.

Thank you.

謝謝。

(Applause)

（鼓掌）