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Autism
Why it's not “Rain Woman”
Women have fewer cognitive1 disorders3 than men do because their bodies are better at ignoring the mutations which cause them
AUTISM is a strange condition. Sometimes its symptoms of “social blindness”
(an inability to read or comprehend the emotions of others) occur alone.
This is dubbed5 high-functioning autism, or Asperger's syndrome6.
Though their fellow men and women may regard them as a bit odd,
high-functioning autists are often successful (sometimes very successful) members of society.
On other occasions, though, autism manifests as part of a range of cognitive problems.
Then, the condition is debilitating7. What is common to those on all parts of the so-called autistic spectrum8 is that they are more often men than women—
so much more often that one school of thought suggests autism is an extreme manifestation9 of what it means, mentally, to be male.
Boys are four times more likely to be diagnosed with autism than girls are. For high-functioning autism, the ratio is seven to one.
Moreover, what is true of autism is true, to a lesser11 extent, of a lot of other neurological and cognitive disorders.
Attention deficit12 hyperactivity disorder2 (ADHD) is diagnosed around three times more often in boys than in girls.
“Intellectual disability”, a catch-all term for congenital low IQ, is 30-50% more common in boys, as is epilepsy.
In fact, these disorders frequently show up in combination.
For instance, children diagnosed with an autistic-spectrum disorder[1] often also receive a diagnosis13 of ADHD.
Autism's precise causes are unclear, but genes14 are important.
Though no mutation4 which, by itself, causes autism has yet been discovered,
well over 100 are known that make someone with them more vulnerable to the condition.
Most of these mutations are as common in women as in men,
so one explanation for the divergent incidence is that male brains are more vulnerable than female ones to equivalent levels of genetic15 disruption.
This is called the female-protective model. The other broad explanation, social-bias theory, is that the difference is illusory.
Girls are being under-diagnosed because of differences either in the ways they are assessed,
or in the ways they cope with the condition, rather than because they actually have it less.
Some researchers claim, for example, that girls are better able to hide their symptoms.
To investigate this question, Sebastien Jacquemont of the University Hospital of Lausanne and his colleagues analysed genetic data from two groups of children with cognitive abnormalities.
Those in one group, 800 strong, were specifically autistic. Those in the other, 16,000 strong, had a range of problems.
Dr Jacquemont has just published his results in the American Journal of Human Genetics.
His crucial finding was that girls in both groups more often had mutations of the sort associated with abnormal neural16 development than boys did.
This was true both for copy-number variants17 (CNVs, which are variations in the number of copies in a chromosome18 of particular sections of DNA19),
and single-nucleotide variants (SNVs, which are alterations20 to single genetic letters in the DNA message).
On the face of it, this seems compelling evidence for the female-protective model.
Since all the children whose data Dr Jacquemont examined had been diagnosed with problems,
if the girls had more serious mutations than the boys did, that suggests other aspects of their physiology21 were covering up the consequences.
Females are thus, if this interpretation22 is correct, better protected from developing symptoms than males are.
And, as further confirmation23, Dr Jacquemont's findings tally10 with a study published three years ago,
which found that CNVs in autistic girls spanned more genes (and were thus, presumably, more damaging), than those in autistic boys.
The counter-argument is that if girls are better at hiding their symptoms, only the more extreme female cases might turn up in the diagnosed groups.
If that were true, a greater degree of mutation might be expected in symptomatic girls as a consequence.
However, Dr Jacquemont and his colleagues also found that damaging CNVs were more likely to be inherited from a child's mother than from his or her father.
They interpret this as further evidence of female-protectedness. Autistic symptoms make people of either sex less likely to become parents.
If mothers are the source of the majority of autism-inducing genes in children, it suggests they are less affected24 by them.
None of this, though, explains the exact mechanism25 that makes boys more susceptible26 than girls.
On this question, too, there are two predominant theories.
The first is that males are more sensitive because they have only one X-chromosome.
This makes them vulnerable to mutations on that chromosome, because any damaged genes have no twin to cover for them.
One cognitive disorder, fragile-X syndrome, is indeed much more common in men for this reason.
Dr Jacquemont's study, however, found only a limited role for X-chromosome mutations.
That suggests the genetic basis of the difference is distributed across the whole genome.
The other kind of explanation is anatomical.
It is based on brain-imaging studies which suggest differences between the patterns of internal connection in male and female brains.
Male brains have stronger local connections, and weaker long-range ones, than do female brains.
That is similar to a difference seen between the brains of autistic people and of those who are not.
The suggestion here is that the male-type connection pattern is somehow more vulnerable to disruption by the factors which trigger autism and other cognitive problems.
1 cognitive | |
adj.认知的,认识的,有感知的 | |
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2 disorder | |
n.紊乱,混乱;骚动,骚乱;疾病,失调 | |
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3 disorders | |
n.混乱( disorder的名词复数 );凌乱;骚乱;(身心、机能)失调 | |
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4 mutation | |
n.变化,变异,转变 | |
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5 dubbed | |
v.给…起绰号( dub的过去式和过去分词 );把…称为;配音;复制 | |
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6 syndrome | |
n.综合病症;并存特性 | |
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7 debilitating | |
a.使衰弱的 | |
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8 spectrum | |
n.谱,光谱,频谱;范围,幅度,系列 | |
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9 manifestation | |
n.表现形式;表明;现象 | |
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10 tally | |
n.计数器,记分,一致,测量;vt.计算,记录,使一致;vi.计算,记分,一致 | |
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11 lesser | |
adj.次要的,较小的;adv.较小地,较少地 | |
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12 deficit | |
n.亏空,亏损;赤字,逆差 | |
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13 diagnosis | |
n.诊断,诊断结果,调查分析,判断 | |
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14 genes | |
n.基因( gene的名词复数 ) | |
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15 genetic | |
adj.遗传的,遗传学的 | |
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16 neural | |
adj.神经的,神经系统的 | |
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17 variants | |
n.变体( variant的名词复数 );变种;变型;(词等的)变体 | |
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18 chromosome | |
n.染色体 | |
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19 DNA | |
(缩)deoxyribonucleic acid 脱氧核糖核酸 | |
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20 alterations | |
n.改动( alteration的名词复数 );更改;变化;改变 | |
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21 physiology | |
n.生理学,生理机能 | |
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22 interpretation | |
n.解释,说明,描述;艺术处理 | |
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23 confirmation | |
n.证实,确认,批准 | |
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24 affected | |
adj.不自然的,假装的 | |
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25 mechanism | |
n.机械装置;机构,结构 | |
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26 susceptible | |
adj.过敏的,敏感的;易动感情的,易受感动的 | |
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27 remains | |
n.剩余物,残留物;遗体,遗迹 | |
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28 opaque | |
adj.不透光的;不反光的,不传导的;晦涩的 | |
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