It has become one of the most controversial and feared medical diagnoses of
modern times. Autism was barely spoken of a generation ago but it has been
forced into public consciousness by the row over the MMR vaccine and the
growing realisation that it is much more common than doctors had imagined.
The suggestion that the developmental disorder can be triggered by the MMR
vaccine has been shown to be scientifically unfounded, but it prompted
thousands of parents to agonise over the cruel condition that seems to leave
children walled off in a social and emotional world of their own, apparently
beyond their love.
Their concerns have also been fed by reports of an autism epidemic. A disorder
that was once rare has become alarmingly common, with as many as one in 100
children now thought to be affected in some way.
Even if much of this is explained by better diagnosis, the condition retains a
brutal mystery. What is it that makes children who seem normal at birth
regress suddenly a year or two into life? Now a change in science’s ability
to decipher how genes influence health is promising to pin down what autism
owes to inheritance.
Within the next year a new study is expected to identify many of the genes
that underlie autism for the first time. At the same time, two new theories
are challenging established thinking about autism genetics in ways that
could ultimately transform diagnosis and treatment.
“The medics tell me we are at a tipping point,” said Dame Stephanie Shirley,
the millionaire computer entrepreneur and philanthropist, who is the
chairman of the research charity Autism Speaks and the mother of an autistic
son.
That genetics are the chief cause of autism has been known for three decades.
It was in 1977 that Professor Michael Rutter, of the Institute of Psychiatry
at King’s College London, published a twin study that transformed the
understanding of its origins.
Twin studies are one of the mainstays of genetics. Because identical twins
share all of their genes while fraternal twins share only half, and both
share broadly similar environments, comparisons can tease out the relative
contributions of nature and nurture.
Professor Rutter found that if an identical twin was autistic, it was highly
likely that the other twin was autistic too. Fraternal twins, however, were
no more likely to share the diagnosis than ordinary siblings. This made it
certain that genes played a large role and it is now thought that autism is
among the most heritable of all psychiatric disorders. Genetics account for
most of the variance and, although environmental factors matter too, they
are less important.
The condition, however, has remained a genetic paradox. For all the certainty
that genes are heavily involved, it has proved impossible to discover which
ones are guilty. In the 30 years since Professor Rutter’s study, hundreds of
genetic mutations that affect health have been found. Most are single-gene
disorders, where inheriting a rogue gene invariably means developing a
disease such as Hunting-ton’s, which affects the central nervous system.
Most of the others have involved very high risks: women with abnormal
variants of the BRCA1 gene, for example, have an 80 per cent risk of
developing breast cancer.
Autism does not work like that: the search for genes with such large effects
has failed. It might be influenced by dozens of genes, each of which raises
the risk by amounts too small to have been detected. Or it could be the
result of spontaneous mutations instead of more easily tracked defects that
are passed from generation to generation. Science does not yet know.
The scientific success story of 2007 has been the coming of age of a new
method of gene-hunting that can find the sort of genes with weak effects
that are thought to influence autism. These genome-wide association studies
compare the DNA of thousands of people who have a disease with healthy
controls, using tools called “gene chips” to screen the entire human genome
for hundreds of thousands of tiny genetic variations that differ between the
two groups.
In recent months, the technique has revealed scores of genes that subtly
influence common conditions such as diabetes, heart disease, breast cancer
and multiple sclerosis, often raising the risk by as little as 10 per cent.
Autism is the next target. The Autism Genome Project (AGP), an international
consortium that studies more than 1,000 families with at least two autistic
members, is about to apply the tool to its database.
“We have been waiting ten years for the technology to do this,” said Antho-ny
Monaco, of the University of Oxford, one of the project’s leaders. “We were
never likely to understand until we were able to screen very large numbers.
The probability has always been that autism is highly genetic, but highly
heterogeneous – that lots of different genes are involved. We now have a
great chance of picking them up.”
The AGP’s genome-wide association study is a classic example of win-win
science. Even if it draws a blank, it will still shed new light on the
genetic origins of the condition. No results would mean one of two things.
It could be that the effects of the genes responsible are even tinier than
suspected and bigger samples are needed. Or it could be that a radical new
theory of autism genetics is correct.
Professor Michael Wigler, of Cold Spring Harbour Laboratory in New York state,
believes that autism might be the result of single genes with big effects
after all. These mutations, however, are not quite the same as the inherited
ones that cause diseases such as Huntington’s.
According to his model, most cases of autism are caused by random, spontaneous
mutations in the sperm or eggs of parents that are passed on to individual
children. Most of these then develop the condition but some, particularly
girls, do not. They are somehow resistant and, although they carry a
potentially harmful mutation, they do not suffer its consequences.
This may explain why autism is an overwhelmingly male disorder, four times
more common among boys than girls. It fits with data showing that the
children of older parents are at higher risk: sporadic mutations of this
sort increase with age. It also points towards an intriguing explanation for
the existence of high-risk families with more than one autistic child.
Professor Wigler’s research suggests that in these families, a mutation
first occurred in one of the parents, usually the mother. While she was
immune, probably because of her gender, her sons were not so lucky: half of
them would be autistic, depending on whether they inherited the rogue gene.
“Sporadic autism is the more common form of the disease and even the inherited
form might derive from a mutation that occurred in a parent or grandparent,”
the professor said.
If mutations of this sort are responsible, they would not show up in the AGP:
they are new and unique to individuals and families, so will not surface
from large comparisons of DNA.
“That is one of the exciting things about our work,” Professor Monaco said.
“If we find genes, it is interesting and if we don’t find genes, it is
interesting too.”
What Professor Wigler’s theory does not account for is another aspect of new
thinking about autism: that it may not be a single disorder.
For autism to be diagnosed, children must meet three criteria: they must show
social impairment, communication difficulties and nonsocial problems such as
repetitive and restricted behaviour. Yet there is an emerging consensus that
these traits do not always go together and that there are people who meet
the criteria for one or two characteristics but who do not receive any
diagnosis. Autism, in short, may be the confluence of three separate
developmental conditions. Only when they occur together is the result
devastating.
Research by Angelica Ronald, Franc-esca Happé and Robert Plomin, of the
Institute of Psychiatry, has suggested that each of these three problems is
influenced by different sets of genes. The twin studies have shown that
while each trait is highly heritable, they do not often overlap.
“The label autism is something that was applied to a set of behaviours that
were first described in the 1940s,” said Dr Ronald, who is funded by Autism
Speaks. “It’s not necessarily a label for a clear biological entity and in
research it may be a misnomer to assume it’s one thing.”
This has important implications for gene-hunting. It could be that genes have
not been found because scientists have been treating autism as a whole. If
different genes affect the communication and social elements of the
disorder, finding them might involve looking at people who are not autistic,
but who have mild versions of one of the problems. “We need to tackle
whether we should look at autism as a single phenomenon, or whether it would
be better to look, for example, just at autistic social problems,” Dr Ronald
said.
Such an approach would also be valuable by shedding immediate light on what
any genes that are found actually do.
Dr Ronald added: “If we split up the symptoms, we can know that these genes
are going to be involved in social problems and those ones in nonsocial
problems. That is obviously going to be valuable when we look towards
diagnosis and treatment.”
An understanding of which genes are involved in which parts of autism should
help doctors to spot the condition earlier. It would also prepare parents
for the way their child is likely to develop and it could help with the
design of therapies.
Dame Stephanie is excited by the pace of change. “It is quite possible that in
five to ten years, we will have a real understanding of this disorder,” she
said. “That’s a timescale that means today’s children may be helped.”
Difficulties - and above-average intelligence
— Autism is a developmental disorder that first becomes apparent by the age of
3
— It is part of a group of disorders known as the autistic spectrum,
which include Asperger’s syndrome, a milder form of the condition
— 1 in 150 children is given a diagnosis of autism
— Boys are four times more likely than girls to have autism
— Autism is defined by three main impairments:
Social interaction
This ranges from a lack of intuition of social stimuli to the inability to
form attachments to carers
Communication
Autistic children show impairments such as delays in language development and
a reduced ability to initiate and sustain conversations
Restricted, stereotyped repetitive behaviour
These include obsessively arranging objects or following very specific
routines
— Other problems include phobias, sleeping and eating disturbances,
tantrums and self-directed aggression
— Many autistic children show above average intelligence
— There are no current effective means to prevent, treat or cure autism
Sources: Autism Speaks, World Health Organisation, Institute of Psychiatry
I too am on the spectrum, I was diagnosed with Aspergers in 2002. I do not want a cure but accommodation and undersatanding. I used my "nonsocial problems such as repetitive and restricted behavior" - a fascination with mineralogy, to gain a PhD in geology.
There is too much positive talk of genetics but too little criticism of its implications and limitations, and too much negative talk of autism. The autism spectrum shades from severe disablement to eccentric "normality", and as I and others have ably demonstrated, has its costs and benefits. Thus, "the cure" needs to be debated sceptically.
Also, I have spoken to several geneticists and they say - at best in 10-15 years time, genetics may aid elopement of drugs that treat aspects of autism. But autism is too complex and heterogeneous - it is autisms not autism. A cure is science fiction but hope begets grant money.
David, Dublin, Ireland
Elucidatus> I can trace a line of direct autism family descent, my grandfather, through my mother, to myself. If 1 in 250 people are autistic, the odds against a direct line of descent being randomly affected by a vaccine would be 1 in 250 to the power of 3, or 1 in 15,625,000.
Paul, Brisbane, Australia
Chemical exposures during prenatal and early postnatal life can bring about important effects on gene expression, which determines normal development and also predisposes to disease risks during adolescence and adult life. Many environmental chemicals can alter gene expression by DNA methylation and chromatin remodelling.
Paul Lynch, Swansea, South Wales
This article speaks as if written by a high-priced ad executive for the pharmco industry. Don't believe this misleading article. The pharmco industry continues to get away with murder by injecting our babies with vaccines at the front end of the life cycle. At the other end they continue to develop a senior population dependant on drugs they should have never needed if they were properly educated on how to maintain health. Sickness is a very profitable business for the pharmco and medical industries.
John Welch, Arlington Heights, IL USA
Find me the ONE Gene responsible for Autism and I will stop commenting that vaccines and thimerosal are the causation of Autism.
Elucidatus, Radiator Springs, CA
my son is 4 and was diagnosed age 27 months. once i learnt about his way of thinking, i learnt to understand him and he is so happy, clever, gentle and loving. he is just very different, as though from a different world. i can assure you though that just becouse he is from a " different world "doesnt mean he is disseased and his "race" needs to be extinguished!
autism speaks are not a good organisation to get information from, the national autistic society offer a lot of information and support in a practical, non predjediced and sensitive way.
matthew was different even in the womb, i was lucky and got a dignosess early so as to get help to learn about him and for him to learn about our world.
at first i was devestated and teriffied, (due to my preconceptions)and yes sometimes its hard and frustrating but most of all i feel very privaliged to have such an amazingly unique, wonderous,sun beam in my life!!!
jb, camborne, cornwall
Autism is no more prevelant now than ever it is just picked up more, I have two cousins who are in their forties and would def. be diagnosed with Autism and Aspergers if they were children now, but thirty five years ago they were very much misunderstood and suffered greatly, and have always been thought of as eccentric and I only know this now as I have a small son who has been diagnosed with Autism and I have learnt about Autism the tough way, my son would have been classed as difficult and naughty forty years ago. I am sure there is no "silent pandemic" at all. At least Autistic kids today have a better chance than there was years ago.
H.D. Winton, Hampshire, UK
Oh, get a grip. The majority of autistic people are not 'trapped in their own world'. They react differently from most people, that's true. But the stereotype of 'on another planet' applies only to a very small minority of the most severely affected autistic people, certainly not to people with mild autism or Asperger's, which accounts for most of the 'new' autism, and in fact not to most of the people with autism plus learning difficulties either. I should know, my 16-yo is one of the latter and goes to a special school for children like him. The so-called 'explosion' in autism is accounted for by increased use of the term. Once upon a time people of normal intelligence with mild autism were not diagnosed at all, and many of those with learning difficulties were not called autistic. Calm down and stop panicking. It's not genetic meltdown, it's not vaccinations - it's the modern obsession with medicalising every little variation from a very limited notion of perfection.
Jean Jones, Edinburgh,
I agree with KW from Devon- there are many symptoms that could describe 'autistic' behaviour, and the problem for those 'on the spectrum' lies in a media machine that assumes all these symptoms are linked, and that therefore all autisitc people must display the same behaviour- they must all have problems with language, have slurred speech, and be completely incapable of social interaction. It is sad that we have this stereotype in our heads that autisitcs are 'lost in their own world' and we are quick to assume that an 'NT' must be an antitype of this, and spend their days fluently reading other people, involving themselves in their lives, having successful relationships friendships and love affairs without hurting themselves or others. Really, how many NT's are actually like this?
Matt Worsdale, Norwich,
One has to question the value of a label that is being applied to such a diverse group of people. It is very unlikely that the articulate people with "autism" who are commenting here really have the same underlying condition as my "autistic" 14-year-old son, who is almost mute. It seems very probable that there are numerous different conditions to for which the same word is being used. Using the same label for millions of different people, most of whom don't seem to have a whole lot in common, is only likely to confuse everyone--not just the public, but also the scientists.
Graham Lester, Roeland Park, KS, USA
As a parent of a little girl with autism I welcome any insights into how the condition is created. At the very least her brother needs to understand the genetic issues when the time comes for him to start a family.
The inaccuracies in this article just support the need for more and better information about autism and its causes. I agree with some of the other comments here - society needs to stop portraying people with autism as 'walled off in a social and emotional world of their own'. The ones I know are happy, loving and loved - how many 'normal' children aren't?
John, Wallingford, UK
Another point about autism is that it is not always disabling, and can often offer advantages. For example, I attribute my mathematic abilities to my diagnosis.
The idea of a genetic cure for autism is not favoured in the autistic community, as many would consider it a form of genocide.
Paul, Brisbane, Australia
Autism Speaks does not speak for me. They don't comprehend the notion that genes are changed by infections, toxins and bad birthing injuries. Twins share these infections, and timings, and injuries. We all mutate in the presence of infections, viruses, bacteria, toxins, heavy metals, pesticides and chemicals. Case in point, the common frog mutating before our eyes, with three legs and one eye. Even birth injuries by Immediate Cord clamping can cause autism.
This is not about gene searches, this is about multinational gene research organizations/pharmacuetical companies that get plenty of money to disway away what is really causing a "genetic epidemic". Man has done a filthy deed to our children, it's time they pay and fess up to what they have done to them.
Kathy, Beaverton, USA OREGON
Our son was diagnosed at 2 but we now recognise that his condition was there from a very young age, maybe even recognisable at as young as 6 weeks or earlier as the previous correspondent indicated.
He demonstrates the triad of impairments but also he is incredibly loving and has great charm!. His is a world that works on different rules to ours.
His frustrations come from an inability to communicate.
When he is locked into a behaviour ( a current favourite being 'waftie', which is spinning out microfibre from cushions into long streams to see them float on the air,) it is clearly a very relaxing and enjoyable passtime for him.
Calling Autism a disease is a mistake. You dont 'catch' it like the flu. You just have it. I believe it to be inherited.
Oliver will not be 'cured' anymore than losing a limb can be cured. He is what he is and the world must accept it, embrace it ,and learn from it.
s r a wheeler, Newbury, uk
Again the press treats autistic people as less worthy than other disabled people of having our condition accurately described assuming we do not have a voice to answer to this characterisation of us as something so negative that it is better we were never brought into the world.
Language and metaphor is used in a way that would not be deemed suitable when talking about other groups of disabled people, who have through the disability movement made progress in terms of seeing the social model of disability widely adopted.
Genetics is a very complex subject and despite of the hype the mathematical complexity of uncovering a genetic cause for autism is going to cause confusion for some time.
There are many studies, but what is not often published amongst the hype is the degree to which these various studies contradict each other, often because of small sample sizes and poor controls, not. One group says it is in the fathers genes another the mothers etc.
It does not add up.
Larry Arnold, Coventry, UK
Harvard University recently reported that today's generation of children are far less healthier than were their parents generation, only one generation removed. Odd, considering today's generation is, without doubt, the most heavily vaccinated generation in history. While yesterday's generation worried about measles, mumps and whooping cough, today's generation worries about life-threatening, life-long disorders that were unheard of just decades ago.
Unfortunately, the CDC reports that 1 in every 6 American children suffer some type of early childhood development disorder, such as, asthma, allergies, autism, juvenile type 1 diabetes, juvenile rheumatoid arthritis, ADD, ADHD, etc. etc.
Are we to believe we are witnessing the first ever recorded "genetic meltown" in history?
Bob Moffitt, Sloatsburg, New York
As someone "on the spectrum," once again, I find myself and those like me devalued by people who seem to think that people with differences are "suffering" from them. My son is also Aspergers.
Autistic disability is not in the person, but in society; that most of the world is neurologically typical (NT), and NT's, for all their hype about empathy and sympathy, CANNOT relate to people who feel and think in a different way, and are frightened by the idea of being different from everyone else (reference the Far Side cartoon with a field of identical penguins all shouting "I am an individual!").
People with autism do have a higher chance of having other co-morbid issues that are the real disabilities. Ask an autistic what needs to be fixed within themselves, and they'll list any other challenges they have (health, mood, etc.)... not the autism. People who are as aware of concrete space and time as much as NTs are with social constructs, have much to contribute. These are strengths!
Michelle Sarabia, M.A., Deming, NM
Again the press treats autistic people as less worthy than other disabled people of having our condition accurately described assuming we do not have a voice to answer to this characterisation of us as something so negative that it is better we were never brought into the world.
Language and metaphor is used in a way that would not be deemed suitable when talking about other groups of disabled people, who have through the disability movement made progress in terms of seeing the social model of disability widely adopted.
Genetics is a very complex subject and despite of the hype the mathematical complexity of uncovering a genetic cause for autism is going to cause confusion for some time.
There are many studies, but what is not often published amongst the hype is the degree to which these various studies contradict each other, often because of small sample sizes and poor controls. One group says it is in the fathers genes another the mothers etc.
It does not add up.
Larry Arnold, Coventry, UK
If this is in fact genetic then tell me why the number of children diagnosed with autism is rising. A few generations ago before we immunized our children this thing wasn't heard of.
T.S, PLANO, TX.
As an Autistic person, I can assure you I am not "walled off in a social and emotional world of [my] own" - I simply experience and interact with the world in a way slightly different to "neurotypical" people. It is at least as much a blessing as a curse.
Autism is not a "psychiatric" condition, as this report incorrectly states - it is a pervasive developmental disorder. And a female is not "immune" from autism "because of her gender" - as a female Autistic, I should know.
You may also be unaware that Autism Speaks is not highly regarded within the Autistic community. Most people on the spectrum I've discussed this with don't want to be "cured" - just understood.
Ethel, Bundaberg,
As the mother of a high functioning autistic daughter, I can honestly say that I've never "agonised" over her, don't view her condition as "cruel". and get plenty of love, hugs and conversation from my bright, happy, quirky child. Yes there are quirks, but nothing that has ruined our lives.
It is a spectrum disorder, and there is much variation in the spectrum. Not all autistic children present the "problems" listed in this article.
I also dispute that autism "appears at 3". The symptoms were there from at least 6 weeks of age, I just didn't recognise them at that stage.
It's not surprising that there is so much "fear" about autism, when scare-mongering articles like this appear. The whole thing smacks of eugenics. Let's decide what's normal and genetically filter out those who may not conform to this norm. What a basis for a wonderful society !
"Autism speaks" doesn't speak for all those affected by autism, it propogates the same "cruel victim" stereotype offensive to many.
K.W, Devon,
The scientists would rather filter out our children who are "predisposed" to damage by toxic assault.
this whole genetics route is a folly, with the population becoming genetically more diverse we should see this condition disappearing. not 1 in 10,000 in th sixties to 1 in 100 today.
apple_m, london,
I predict the genes found to be involved in autism will be those that are altered by the toxic chemicals Drs. Grandjean and Landrigan, scientists from the Harvard School of Public Health, in Boston, say are responsible for causing a "silent pandemic" of neurodevelopment disorders.
Paul Lynch, Swansea, South Wales