Unraveling mitochondria’s mysterious link to autism
Unexplained origins: Some researchers say there is a real
between autism and mitochondria.
In the past two weeks, autism researchers and advocacy
groups have been agog with news that autism could be linked to an extremely rare group of metabolic diseases.
The controversy began when leaked court documents suggested
that the U.S. Court of Federal Claims had ruled that when triggered by a vaccination, defects of the mitochondria
— the ‘power plants’ of every cell that turn food into energy — could cause autism.
In November 2007, the court heard a case alleging that
routine vaccinations caused severe neurological damage to a nine-year-old girl named Hannah Poling. Poling’s doctors
testified that the five vaccinations she received at age 19 months aggravated a preexisting ‘mitochondrial respiratory
chain disorder’ and led to degenerative brain disease with “features consistent with autistic spectrum disorder.”
For these injuries, the court ruled that the Polings are entitled to government compensation.
For most autism researchers, the mention of a link to mitochondria
came as a complete surprise. “We’re all wondering where the science is to back this up,” says pediatrician
and vaccine expert Paul Offit.
Only a handful of case studies have been published addressing
the link between autism and mitochondrial disease, but they all indicate that there is a real association. The debate is focused
on just how large the association is, and whether vaccinations have any impact on the underlying biological mechanism.
“Autism is probably caused by many, many things,
most of them genetic, and this is one of them,” says mitochondrial expert Salvatore DiMauro of Columbia University, who published one study1 of five autistic individuals with mitochondrial disease.
The only way to know for sure, DiMauro says, is to perform
a thorough epidemiological study looking for mitochondrial defects in a few hundred autistic patients. “I don’t
think we’ll find a lot of them. But that would be worthwhile,” he says.
Others insist the link is more common. A small group of
scientists originally affiliated with the Poling case is drafting a report of about 30 children under age five with both mitochondrial
disease and regressive autism. One of the authors, Richard Kelley, a biochemical geneticist at Johns Hopkins University who first diagnosed Poling
with mitochondrial disorder, estimates that “at least 10 percent” of children with autism have an underlying mitochondrial
“We’ve moved very slowly and carefully in gathering
data because we knew it would be extremely difficult to convince people that this is a real phenomenon,” Kelley says.
“It takes something big to wake everyone up to something that's been staring them in the face for years.”
Genetic mitochondrial diseases are as varied as they are
rare. Hundreds of types exist. Depending on the country, prevalence estimates range from 1 in 3,000 to 1 in 5,000 adults,
according to molecular neurologist Anu Suomalainen-Wartiovaara, whose lab at the University of Helsinki specializes in mitochondrial dysfunction.
“Maybe 5 or 10 percent of all our genes are making mitochondrial proteins,” she says. “So it's a huge group
Some people with the disease get sick just after birth,
and may die after an especially violent epileptic attack. Others develop normally for several years before seeing any symptoms.
In these cases, the disease is usually triggered by stresses to the immune system, such as a minor respiratory infection or,
some claim, a vaccination.
Because mitochondria are vital to producing energy in most
of the body’s cells, many organ systems can be affected by their dysfunction. The most common symptoms include muscle
weakness, epilepsy, diabetes, liver failure and — as in Poling’s case — encephalopathy or regressive brain
“Psychiatric symptoms are quite common in these patients,”
says Suomalainen-Wartiovaara. With severe encephalopathy, she adds, “it’s hard to make the diagnosis of autism
because so many different structural changes are happening and causing psychiatric symptoms.”
This means that autism could either be over- or under-diagnosed
in these patients. Unlike certain types of diabetes, which have been definitively shown to be associated with specific point
mutations in mitochondrial DNA, “there’s just no hard data on autism,” she says.
A handful of case studies and small population studies
have explored how genetic mitochondrial disorders might be associated with autism. The largest2, published in 2005, was led by pediatrician Guiomar Oliveira of Portugal’s Centro de Desenvolvimento da Criança. Oliveira found that 5 out of 69 autistic children (or 7.2 percent) had an
underlying mitochondrial respiratory chain disorder — the same type as Poling.
Though this is a much higher prevalence than in the general
population, “we don't know if it is a primary cause of autism,” Oliveira wrote in an email. The autism could be
caused by another metabolic or genetic defect that is also controlled by the mitochondria, she explained.
Cause and effect:
According to the leaked court documents, within hours of
vaccination, 19-month-old Hannah Poling showed a host of physical and behavioral deficits, including loss of language skills,
eye contact and the ability to relate to other people — all of which are also common features of autism spectrum disorders.
Kelley says mitochondrial disease has a significant link
to this kind of regressive autism, in which a child develops normally until about 18 months. “Most kids I’ve assessed
with regressive autism have an underlying mitochondrial problem,” he says.
In 2003, he presented an abstract at the Current Trends in Autism Conference in Boston, stating that for kids diagnosed at the Kennedy Krieger Institute with developmental disabilities, mitochondrial disease was the most common
diagnosis, accounting for as many as 20 percent of autistic children.
“It’s a very distinctive biochemical fingerprint
of abnormalities that we see, and it’s very consistent from patient to patient,” he says.
During brain development, timing is everything. Kelley
theorizes that if children with specific types of mitochondrial disease are exposed to a “stressful event” —
which might include an immune reaction — between the age of one and two years, “they’ll often develop the
phenotype of autism.”
If that stress comes during a different period of brain
development, the disease might manifest into other symptoms.
He bases this theory partly on work done in mice by his
colleague Michael Johnston, who found that the density of a certain brain cell protein, called the NMDA receptor, peaks around
18 months of development.
NMDA receptors are important for chemical communication
between brain synapses and require energy to function. A higher density of receptors, Kelley reasons, requires more energy
— which is difficult to produce without fully functional mitochondria. This could have a huge impact on brain maturation
and the pruning of neurons, the developmental processes occurring at that time.
“Overstressing that system might create a massive
pruning at a time when you’re only supposed to have a little bit of pruning,” Kelley says, possibly leading to
Bolstering this hypothesis, he says, is that many children
with regressive autism also have an “inflammatory phenotype,” meaning they have ear infections or multiple allergies.
“Their immune systems might be especially tuned up, causing them to overreact to stress,” he says.
A scientific study testing this theoretical mechanism in
humans has not yet been published.
Kelley says his biochemical approach to studying the mitochondrial
origins of autism has delivered insights missed by most autism experts. “Most people dealing with autism don’t
understand metabolic [science], so I understand why they’re skeptical,” he says.
The vaccination trigger is the most controversial part
of the theory, and of Poling’s court case. “I reject that part of [the Poling case] completely,” says DiMauro.
“Mitochondrial diseases are caused by mutations in genes,” he explains. “There is no way a vaccination can
cause a mitochondrial disease.”
Source url: http://sfari.org/news/unraveling-mitochondria-s-mysterious-link-to-autism
Autism and Mitochondrial Disease
The US Government document states “vaccinations CHILD received
on July 19, 2000, significantly aggravated an underlying mitochondrial disorder, which predisposed her to deficits in cellular
energy metabolism, and manifested as a regressive encephalopathy with features of autism spectrum disorder.”
What does this mean? On first blush, I am reeling from the idea that
this could be evidence which connects autism spectrum disorders with mitochondrial disease. For several years, the parents
in our MitoAction community have been describing their children’s autistic symptoms while
struggling to classify their child’s mitochondrial disease into the same category. Needless to say, like many cases
that are atypcial or difficult to classify, patients and parents were often dismissed by their physicians, schools, employers
and specialists (do the words “nervous mother” or “hypochondriac” ring a bell?)
All right, let’s settle down. What else could this groundbreaking
concession imply? It is my opinion that there are many, many people (adults and children) in our population today that have
either 1) an undiagnosed or misdiagnosed Mt disease, or 2) have an underlying predisposition to mitochondrial disease. Recent
research studies have found links between mitochondrial dysfunction and common diseases of aging, such as Parkinson’s
and Alzheimer’s disease. Further, the impact of the health of the mitochondria as the energy source for the entire body
is not fully understood.
David Kirby, a journalist and long-time advocate of the “autism-vaccine debate”,
speculates in his blog about the implications that could follow as a result of this groundbreaking
news. His comments, as well as the actual document from the US Government, are well worth reading. Further, he describes an
interesting but little known phenomenon.
Among children seen at the Krieger instiute with developmental delay and ASD (autism
spectrum disorder), “mitochondrial disease has been the most common diagnosis
and may account for as many as 20% of autistic children.”
Mitochondrial diseases are difficult to to diagnose (that’s
an understatement), and even more difficult to classify for many adults and children. Many patients have a mitochondrial disease
with a component of X, Y, and Z, such as “Complex I and III with leukodystrophy”, or “Complex IV with eosinophila”,
or “unspecified mitochondrial disease with features of ASD”. Unfortunately, patients and parents have been receiving
these creative titles with very little support, strategy or guidance on what those words actually mean.
Mitochondrial disease is often dismissed as “rare”, when
actually the incidence and prevalence of the disease may be much more common than reported due to the lack of understanding
and high incidence of misdiagnosis. It is estimated that mitochondrial disease affects one in 4000 people, yet this estimate
does not account for the potential population of people who have an underlying mitochondrial disorder, or a predisposition
to mitochondrial dysfunction. The onset and subsequent diagnosis of Mito in adults can often be traced back to a significant
event, such as a serious sickness, significant dehydration or heat stroke, trauma, or prolonged period of stress. That, at
least, makes sense in the “autism-vaccine-mitochondrial disease” debate. Patients with mitochondrial disease know
that prevention of any condition or environmental factor which could trigger a crisis or progression of the disease is the
front-line approach to managing the disease daily.
For the first time, mitochondrial disease is making major headlines, and I think it’s about time. It’s about time that the
adults and children who are robbed of their energy are supported, recognized, and understood. For all the attention that lifestyle-related
diseases (heart disease, diabetes, cancer) have received in the last decade, I have hope that now our attention will shift
to understanding how the environment and genetics impact our health, and the lives of future generations. What do you think?
Cristy Balcells RN MSN, Executive Director www.MitoAction.org and Mom of 3
(C) 2008 Cristy Balcells
Source url: http://www.mitoaction.org/blog/autism-and-mitochondrial-disease
U.S. Health Officials Say Autism Rate About 1 in 150,
Higher Than Previous Estimates
By MIKE STOBBE
The Associated Press
ATLANTA February 8, 2007- About one in 150 American children
has autism, an urgent public health concern, said U.S. health officials Thursday who reported on the largest study done so
far on the troubling disorder.
The new numbers, based on 2002 data from 14 states, are higher than previously
Advocates said the study provides a sad new understanding of how common autism
is, and should fuel efforts to get the government to spend hundreds of millions of additional dollars for autism research
"This data today shows we're going to need more early intervention services
and more therapists, and we're going to need federal and state legislators to stand up for these families," said Alison Singer,
spokeswoman for Autism Speaks, the nation's largest organization advocating more services for autistic children.
The study by the U.S. Centers for Disease Control and Prevention calculated
an average autism rate 6.6 per 1,000. That compares with last year's estimated rate of 5.5 in 1,000.
The research involved an intense review of medical and school records for
children in all or part of 14 states and gives the clearest picture yet of how common autism is in some parts of the country,
CDC officials said.
However, those states are not demographically representative of the nation
as a whole, so officials cautioned against using the results as a national average. The study doesn't include some of the
most populous states like California, Texas and Florida.
Also, the study does not answer whether autism is increasing a controversial
topic, driven in part by the contention by some parents and advocates that autism is linked to a vaccine preservative. The
best scientific studies have not borne out that claim.
"We can't make conclusions about trends yet," because the study's database
is too new, said Catherine Rice, a CDC behavioral scientist who was the study's lead author.
Autism is a complex disorder usually not diagnosed in children until after
age 3. It is characterized by a range of behaviors, including difficulty in expressing needs and inability to socialize. The
cause is not known.
Scientists have been revising how common they think the disorder
is. Past estimates from smaller studies have ranged from 1 out of every 10,000 children to nearly 1 in 100.
Last year's estimate of 5.5 out of every 1,000 U.S. children was based on
national surveys of tens of thousands of families with school-age kids. That fit into a prevalence range found in other recent
The CDC also has been developing an alternate way of measuring autism prevalence,
building a network of university and state health departments for ongoing surveillance of autism and developmental disabilities.
The study released Thursday is one of the first scientific papers to come out of that effort.
"This is a more accurate rate because of the methods they used," said Dr.
Eric Hollander, an autism expert at New York's Mount Sinai School of Medicine.
The study involved 2002 data from parts or all of 14 states Alabama, Arizona,
Arkansas, Colorado, Georgia, Maryland, Missouri, New Jersey, North Carolina, Pennsylvania, South Carolina, Utah, West Virginia
Researchers looked specifically at children who were 8 years old that year.
They said most children with autism are identified for medical or educational services by that age.
The researchers checked health records in each area and school records when
they were made available, looking for children who met diagnostic criteria for autism. They used those numbers to calculate
a prevalence rate for each study area.
The rates varied from 3.3 per 1,000 in the study site in Alabama, which was
made up of the state's 32 northernmost counties, to 10.6 in the site in New Jersey, which involved four counties, including
Researchers say they don't know why the rate was so high in New Jersey. They
think the Alabama rate was low at least partly because researchers had limited access to special education records there.
Wired Magazine - Issue 9.12 - Dec 2001
The Geek Syndrome
Autism - and its milder cousin Asperger's syndrome
- is surging among the children of Silicon Valley. Are math-and-tech genes to blame?
Nick is building a universe on his computer.
He's already mapped out his first planet: an anvil-shaped world called Denthaim that is home to gnomes and gods, along with
a three-gendered race known as kiman. As he tells me about his universe, Nick looks up at the ceiling, humming fragments
of a melody over and over. "I'm thinking of making magic a form of quantum physics, but I haven't decided yet, actually,"
he explains. The music of his speech is pitched high, alternately poetic and pedantic - as if the soul of an Oxford don has
been awkwardly reincarnated in the body of a chubby, rosy-cheeked boy from Silicon Valley. Nick is 11 years old.
Nick's father is a software engineer, and his
mother is a computer programmer. They've known that Nick was an unusual child for a long time. He's infatuated with fantasy
novels, but he has a hard time reading people. Clearly bright and imaginative, he has no friends his own age. His inability
to pick up on hidden agendas makes him easy prey to certain cruelties, as when some kids paid him a few dollars to wear a
ridiculous outfit to school.
One therapist suggested that Nick was suffering
from an anxiety disorder. Another said he had a speech impediment. Then his mother read a book called Asperger's Syndrome:
A Guide for Parents and Professionals. In it, psychologist Tony Attwood describes children who lack basic social and motor
skills, seem unable to decode body language and sense the feelings of others, avoid eye contact, and frequently launch into
monologues about narrowly defined - and often highly technical - interests. Even when very young, these children become obsessed
with order, arranging their toys in a regimented fashion on the floor and flying into tantrums when their routines are disturbed.
As teenagers, they're prone to getting into trouble with teachers and other figures of authority, partly because the subtle
cues that define societal hierarchies are invisible to them.
"I thought, 'That's Nick,'" his mother recalls.
Asperger's syndrome is one of the disorders on
the autistic spectrum - a milder form of the condition that afflicted Raymond Babbitt, the character played by Dustin Hoffman
in Rain Man. In the taxonomy of autism, those with Asperger's syndrome have average - or even very high - IQs, while
70 percent of those with other autistic disorders suffer from mild to severe mental retardation. One of the estimated 450,000
people in the US living with autism, Nick is more fortunate than most. He can read, write, and speak. He'll be able to live
and work on his own. Once he gets out of junior high hell, it's not hard to imagine Nick creating a niche for himself in all
his exuberant strangeness. At the less fortunate end of the spectrum are what diagnosticians call "profoundly affected" children.
If not forcibly engaged, these children spend their waking hours in trancelike states, staring at lights, rocking, making
high-pitched squeaks, and flapping their hands, repetitively stimulating ("stimming") their miswired nervous systems.
In one of the uncanny synchronicities of science,
autism was first recognized on two continents nearly simultaneously. In 1943, a child psychiatrist named Leo Kanner published
a monograph outlining a curious set of behaviors he noticed in 11 children at the Johns Hopkins Hospital in Baltimore. A year
later, a pediatrician in Vienna named Hans Asperger, who had never seen Kanner's work, published a paper describing four children
who shared many of the same traits. Both Kanner and Asperger gave the condition the same name: autism - from the Greek word
for self, autòs - because the children in their care seemed to withdraw into iron-walled universes of their own.
Kanner went on to launch the field of child psychiatry
in the US, while Asperger's clinic was destroyed by a shower of Allied bombs. Over the next 40 years, Kanner became widely
known as the author of the canonical textbook in his field, in which he classified autism as a subset of childhood schizophrenia.
Asperger was virtually ignored outside of Europe and died in 1980. The term Asperger syndrome wasn't coined until a
year later, by UK psychologist Lorna Wing, and Asperger's original paper wasn't even translated into English until 1991. Wing
built upon Asperger's intuition that even certain gifted children might also be autistic. She described the disorder as a
continuum that "ranges from the most profoundly physically and mentally retarded person ... to the most able, highly intelligent
person with social impairment in its subtlest form as his only disability. It overlaps with learning disabilities and shades
into eccentric normality."
Asperger's notion of a continuum that embraces
both smart, geeky kids like Nick and those with so-called classic or profound autism has been accepted by the medical establishment
only in the last decade. Like most distinctions in the world of childhood developmental disorders, the line between classic
autism and Asperger's syndrome is hazy, shifting with the state of diagnostic opinion. Autism was added to the American Psychiatric
Association's Diagnostic and Statistical Manual of Mental Disorders in 1980, but Asperger's syndrome wasn't included
as a separate disorder until the fourth edition in 1994. The taxonomy is further complicated by the fact that few if any people
who have Asperger's syndrome will exhibit all of the behaviors listed in the DSM-IV. (The syn in syndrome
derives from the same root as the syn in synchronicity - the word means that certain symptoms tend to cluster
together, but all need not be present to make the diagnosis.) Though Asperger's syndrome is less disabling than "low-functioning"
forms of autism, kids who have it suffer difficulties in the same areas as classically autistic children do: social interactions,
motor skills, sensory processing, and a tendency toward repetitive behavior.
In the last 20 years, significant advances have
been made in developing methods of behavioral training that help autistic children find ways to communicate. These techniques,
however, require prodigious amounts of persistence, time, money, and love. Though more than half a century has passed since
Kanner and Asperger first gave a name to autism, there is still no known cause, no miracle drug, and no cure.
And now, something dark and unsettling is happening
in Silicon Valley.
In the past decade, there has been a significant
surge in the number of kids diagnosed with autism throughout California. In August 1993, there were 4,911 cases of so-called
level-one autism logged in the state's Department of Developmental Services client-management system. This figure doesn't
include kids with Asperger's syndrome, like Nick, but only those who have received a diagnosis of classic autism. In the mid-'90s,
this caseload started spiraling up. In 1999, the number of clients was more than double what it had been six years earlier.
Then the curve started spiking. By July 2001, there were 15,441 clients in the DDS database. Now there are more than seven
new cases of level-one autism - 85 percent of them children - entering the system every day.
the '90s, cases tripled in California. "Anyone who says this is due to better diagnostics has his head in the sand."
California is not alone. Rates of both classic
autism and Asperger's syndrome are going up all over the world, which is certainly cause for alarm and for the urgent mobilization
of research. Autism was once considered a very rare disorder, occurring in one out of every 10,000 births. Now it's understood
to be much more common - perhaps 20 times more. But according to local authorities, the picture in California is particularly
bleak in Santa Clara County. Here in Silicon Valley, family support services provided by the DDS are brokered by the San Andreas
Regional Center, one of 21 such centers in the state. SARC dispenses desperately needed resources (such as in-home behavioral
training, educational aides, and respite care) to families in four counties. While the autistic caseload is rising in all
four, the percentage of cases of classic autism among the total client population in Santa Clara County is higher enough to
be worrisome, says SARC's director, Santi Rogers.
"There's a significant difference, and no signs
that it's abating," says Rogers. "We've been watching these numbers for years. We feared that something like this was coming.
But this is a burst that has staggered us in our steps."
It's not easy to arrive at a clear picture of
whether there actually is a startling rise in the incidence of autism in California, as opposed to just an increase in diagnoses.
One problem, says Linda Lotspeich, director of the Stanford Pervasive Developmental Disorders Clinic, is that "the rules in
the DSM-IV don't work." The diagnostic criteria are subjective, like "Marked impairment in the use of nonverbal behaviors
such as eye-to-eye gaze, facial expression, body posture, and gestures to regulate social interaction."
"How much 'eye-to-eye gaze' do you have to have
to be normal?" asks Lotspeich. "How do you define what 'marked' is? In shades of gray, when does black become white?"
Some children will receive a diagnosis of classic
autism, and another diagnosis of Asperger's syndrome, from two different clinicians. Tony Attwood's advice to parents is strictly
practical: "Use the diagnosis that provides the services."
While diagnostic fuzziness may be contributing
to a pervasive sense that autism is on the rise, Ron Huff, the consulting psychologist for the DDS who uncovered the statistical
trend, does not believe that all we're seeing now is an increase in children who would have previously been tagged with some
other disability, such as mental retardation - or overlooked as perfectly healthy, if quirky, kids.
"While we certainly need to do more research,"
says Huff, "I don't think the change in diagnostic criteria will account for all of this rise by any means."
The department is making its data available to
the MIND Institute at the University of California at Davis, to tease out what's behind the numbers. The results of that research
will be published next year. But the effects of a surging influx are already rippling through the local schools. Carol Zepecki,
director of student services and special education for the Palo Alto Unified School District, is disturbed by what she's seeing.
"To be honest with you, as I look back on the special-ed students I've worked with for 20 years, it's clear to me that these
kids would not have been placed in another category. The numbers are definitely higher." Elizabeth Rochin, a special-ed teacher
at Cupertino High, says local educators are scrambling to create new resources. "We know it's happening, because they're coming
through our schools. Our director saw the iceberg approaching and said, 'We've got to build something for them.'"
The people scrambling hardest are parents. In-home
therapy alone can cost $60,000 or more a year, and requires so much dedication that parents (particularly mothers) are often
forced to quit their jobs and make managing a team of specialists their new 80-hour-a-week career. Before their children become
eligible for state funding, parents must obtain a diagnosis from a qualified clinician, which requires hours of testing and
observation. Local facilities, such as the Stanford Pervasive Development Disorders Clinic and its counterpart at UC San Francisco,
are swamped. The Stanford clinic is able to perform only two or three diagnoses a week. It currently has a two- to six-month
For Rick Rollens, former secretary of the California
Senate and cofounder of the MIND Institute, the notion that there is a frightening increase in autism worldwide is no longer
in question. "Anyone who says this epidemic is due to better diagnostics," he says, "has his head in the sand."
Autism's insidious style of onset is particularly
cruel to parents, because for the first two years of life, nothing seems to be wrong. Their child is engaged with the world,
progressing normally, taking first steps into language. Then, suddenly, some unknown cascade of neurological events washes
it all away.
One father of an autistic child, Jonathan Shestack,
describes what happened to his son, Dov, as "watching our sweet, beautiful boy disappear in front of our eyes." At two, Dov's
first words - Mom, Dad, flower, park - abruptly retreated into silence. Over the next six months, Dov ceased to recognize
his own name and the faces of his parents. It took Dov a year of intensive behavioral therapy to learn how to point. At age
9, after the most effective interventions available (such as the step-by-step behavioral training methods developed by Ivar
Lovaas at UCLA), Dov can speak 20 words.
Even children who make significant progress require
levels of day-to-day attention from their families that can best be described as heroic. Marnin Kligfeld is the founder of
a software mergers-and-acquisitions firm. His wife, Margo Estrin, a doctor of internal medicine, is the daughter of Gerald
Estrin, who was a mentor to many of the original architects of the Internet (see "Meet the Bellbusters," Wired 9.11, page 164). When their daughter, Leah, was 3, a pediatrician at Oakland Children's Hospital looked
at her on the examining table and declared, "There is very little difference between your daughter and an animal. We have
no idea what she will be able to do in the future." After eight years of interventions - behavioral training, occupational
therapy, speech therapy - Leah is a happy, upbeat 11-year-old who downloads her favorite songs by the hundreds. And she is
still deeply autistic.
Leah's first visit to the dentist required weeks
of preparation, because autistic people are made deeply anxious by any change in routine. "We took pictures of the dentist's
office and the staff, and drove Leah past the office several times," Kligfeld recalls. "Our dentist scheduled us for the end
of the day, when there were no other patients, and set goals with us. The goal of the first session was to have Leah sit in
the chair. The second session was so Leah could rehearse the steps involved in treatment without actually doing them. The
dentist gave all of his equipment special names for her. Throughout this process, we used a large mirror so Leah could see
exactly what was being done, to ensure that there were no surprises."
Daily ordeals like this, common in the autistic
community, underline the folly of the hypothesis that prevailed among psychologists 20 years ago, who were convinced that
autism was caused by a lack of parental affection. The influential psychiatrist Bruno Bettelheim aggressively promoted a theory
that has come to be known as the "refrigerator mother" hypothesis. He declared in his best-selling book, The Empty Fortress,
"The precipitating factor in infantile autism is the parent's wish that his child should not exist. ... To this the child
responds with massive withdrawal." He prescribed "parentectomy" - removal of the child from the parents - and years of family
therapy. His hypothesis added the burden of guilt to the grief of having an autistic child, and made autism a source of shame
and secrecy, which hampered efforts to obtain clinical data. The hypothesis has been thoroughly discredited. Richard Pollak's
The Creation of Dr. B exposed Bettelheim as a brilliant liar who concocted case histories and exaggerated both his
experience with autistic children and the success of his treatments.
thing nearly everyone in the field agrees on: genetic predisposition. Identical twins share the disorder 9 times out of 10.
But the debates about the causes of autism are
certainly not over. Controversies rage about whether environmental factors - such as mercury and other chemicals in universally
administered vaccines, industrial pollutants in air and water, and even certain foods - act as catalysts that trigger the
disorder. Bernard Rimland, the first psychologist to oppose Bettelheim and promote the idea that autism was organic in origin,
has become a leading advocate for intensified investigation in this area. The father of an autistic son, Rimland has been
instrumental in marshaling medical expertise and family data to create better assessment protocols.
The one thing that almost all researchers in
the field agree on is that genetic predisposition plays a crucial role in laying the neurological foundations of autism in
most cases. Studies have shown that if one identical twin is autistic, there's a 90 percent chance that the other twin will
also have the disorder. If parents have had one autistic child, the risk of their second child being autistic rises from 1
in 500 to 1 in 20. After two children with the disorder, the sobering odds are 1 in 3. (So many parents refrain from having
more offspring after one autistic child, geneticists even have a term for it: stoppage.) The chances that the siblings
of an autistic child will display one or more of the other developmental disorders with a known genetic basis - such as dyslexia
or Tourette's syndrome - are also significantly higher than normal.
The bad news from Santa Clara County raises an
inescapable question. Unless the genetic hypothesis is proven false, which is unlikely, regions with a higher than normal
distribution of people on the autistic spectrum are something no researcher could ask for: living laboratories for the study
of genetic expression. When the rain that fell on the Rain Man falls harder on certain communities than others, what becomes
of the children?
The answer may be raining all over Silicon Valley.
And one of the best hopes of finding a cure may be locked in the DNA sequences that produced the minds that have made this
area the technological powerhouse of the world.
It's a familiar joke in the industry that many
of the hardcore programmers in IT strongholds like Intel, Adobe, and Silicon Graphics - coming to work early, leaving late,
sucking down Big Gulps in their cubicles while they code for hours - are residing somewhere in Asperger's domain. Kathryn
Stewart, director of the Orion Academy, a high school for high-functioning kids in Moraga, California, calls Asperger's syndrome
"the engineers' disorder." Bill Gates is regularly diagnosed in the press: His single-minded focus on technical minutiae,
rocking motions, and flat tone of voice are all suggestive of an adult with some trace of the disorder. Dov's father told
me that his friends in the Valley say many of their coworkers "could be diagnosed with ODD - they're odd." In Microserfs,
novelist Douglas Coupland observes, "I think all tech people are slightly autistic."
Though no one has tried to convince the Valley's
best and brightest to sign up for batteries of tests, the culture of the area has subtly evolved to meet the social needs
of adults in high-functioning regions of the spectrum. In the geek warrens of engineering and R&D, social graces are beside
the point. You can be as off-the-wall as you want to be, but if your code is bulletproof, no one's going to point out that
you've been wearing the same shirt for two weeks. Autistic people have a hard time multitasking - particularly when one of
the channels is face-to-face communication. Replacing the hubbub of the traditional office with a screen and an email address
inserts a controllable interface between a programmer and the chaos of everyday life. Flattened workplace hierarchies are
more comfortable for those who find it hard to read social cues. A WYSIWYG world, where respect and rewards are based strictly
on merit, is an Asperger's dream.
Obviously, this kind of accommodation is not
unique to the Valley. The halls of academe have long been a forgiving environment for absentminded professors. Temple Grandin
- the inspiring and accomplished autistic woman profiled in Oliver Sacks' An Anthropologist on Mars - calls NASA the
largest sheltered workshop in the world.
A recurring theme in case histories of autism,
going all the way back to Kanner's and Asperger's original monographs, is an attraction to highly organized systems and complex
machines. There's even a perennial cast of hackers: early adopters with a subversive streak. In 1944, Asperger wrote of a
boy "chemist [who] uses all his money for experiments which often horrify his family and even steals to fund them." Another
boy proved a mathematical error in Isaac Newton's calculations while he was still a freshman in college. A third escaped neighborhood
bullies by taking lessons from an old watchmaker. And a fourth, wrote Asperger, "came to be preoccupied with fantastic inventions,
such as spaceships and the like." Here he added, "one observes how remote from reality autistic interests really are" - a
comment he qualified years later, when spaceships were no longer remote or fantastic, by joking that the inventors of spaceships
might themselves be autistic.
Clumsy and easily overwhelmed in the physical
world, autistic minds soar in the virtual realms of mathematics, symbols, and code. Asperger compared the children in his
clinic to calculating machines: "intelligent automata" - a metaphor employed by many autistic people themselves to describe
their own rule-based, image-driven thought processes. In her autobiography, Thinking in Pictures, Grandin compares
her mind to a VCR. When she hears the word dog, she mentally replays what she calls "videotapes" of various dogs that
she's seen, to arrive at something close to the average person's abstract notion of the category that includes all dogs. This
visual concreteness has been a boon to her work as a designer of more humane machinery for handling livestock. Grandin sees
the machines in her head and sets them running, debugging as she goes. When the design in her mind does everything it's supposed
to, she draws a blueprint of what she sees.
another age, these men would have been monks, developing new ink for printing presses. Suddenly, they're reproducing at a
much higher rate."
These days, the autistic fascinations with technology,
ordered systems, visual modes of thinking, and subversive creativity have plenty of outlets. There's even a cheeky Asperger's
term for the rest of us - NTs, "neurotypicals." Many children on the spectrum become obsessed with VCRs, Pokémon, and
computer games, working the joysticks until blisters appear on their fingers. (In the diagnostic lexicon, this kind of relentless
behavior is called "perseveration.") Even when playing alongside someone their own age, however, autistic kids tend to play
separately. Echoing Asperger, the director of the clinic in San Jose where I met Nick, Michelle Garcia Winner, suggests that
"Pokémon must have been invented by a team of Japanese engineers with Asperger." Attwood writes that computers "are
an ideal interest for a person with Asperger's syndrome ... they are logical, consistent, and not prone to moods."
This affinity for computers gives teachers and
parents leverage they can use to build on the natural strengths of autistic children. Many teenagers who lack the motor skills
to write by hand find it easier to use a keyboard. At Orion Academy, every student is required to buy an iBook fitted with
an AirPort card. Class notes are written on electronic whiteboards that port the instructional materials to the school server
for retrieval. (At lunch, the iBooks are shut off, and if the kids want to play a two-person game, they're directed to a chess
board.) The next generation of assistive technology is being designed by Neil Scott's Archimedes Project at Stanford. Scott's
team is currently developing the equivalent of a PDA for autistic kids, able to parse subtle movements of an eyebrow or fingertip
into streams of text, voice, or images. The devices will incorporate video cameras, head and eye tracking, intelligent agents,
and speech recognition to suit the needs of the individual child.
The Valley is a self-selecting community where
passionately bright people migrate from all over the world to make smart machines work smarter. The nuts-and-bolts practicality
of hard labor among the bits appeals to the predilections of the high-functioning autistic mind. The hidden cost of building
enclaves like this, however, may be lurking in the findings of nearly every major genetic study of autism in the last 10 years.
Over and over again, researchers have concluded that the DNA scripts for autism are probably passed down not only by relatives
who are classically autistic, but by those who display only a few typically autistic behaviors. (Geneticists call those who
don't fit into the diagnostic pigeonholes "broad autistic phenotypes.")
The chilling possibility is that what's happening
now is the first proof that the genes responsible for bestowing certain special gifts on slightly autistic adults - the very
abilities that have made them dreamers and architects of our technological future - are capable of bringing a plague down
on the best minds of the next generation. For parents employed in prominent IT firms here, the news of increased diagnoses
of autism in their ranks is a confirmation of rumors that have quietly circulated for months. Every day, more and more of
their coworkers are running into one another in the waiting rooms of local clinics, taking the first uncertain steps on a
journey with their children that lasts for the rest of their lives.
In previous eras, even those who recognized early
that autism might have a genetic underpinning considered it a disorder that only moved diagonally down branches of a family
tree. Direct inheritance was almost out of the question, because autistic people rarely had children. The profoundly affected
spent their lives in institutions, and those with Asperger's syndrome tended to be loners. They were the strange uncle who
droned on in a tuneless voice, tending his private logs of baseball statistics or military arcana; the cousin who never married,
celibate by choice, fussy about the arrangement of her things, who spoke in a lexicon mined reading dictionaries cover to
The old line "insanity is hereditary, you get
it from your kids" has a twist in the autistic world. It has become commonplace for parents to diagnose themselves as having
Asperger's syndrome, or to pinpoint other relatives living on the spectrum, only after their own children have been diagnosed.
High tech hot spots like the Valley, and Route
128 outside of Boston, are a curious oxymoron: They're fraternal associations of loners. In these places, if you're a geek
living in the high-functioning regions of the spectrum, your chances of meeting someone who shares your perseverating obsession
(think Linux or Star Trek) are greatly expanded. As more women enter the IT workplace, guys who might never have had
a prayer of finding a kindred spirit suddenly discover that she's hacking Perl scripts in the next cubicle.
One provocative hypothesis that might account
for the rise of spectrum disorders in technically adept communities like Silicon Valley, some geneticists speculate, is an
increase in assortative mating. Superficially, assortative mating is the blond gentleman who prefers blondes; the hyperverbal
intellectual who meets her soul mate in the therapist's waiting room. There are additional pressures and incentives for autistic
people to find companionship - if they wish to do so - with someone who is also on the spectrum. Grandin writes, "Marriages
work out best when two people with autism marry or when a person marries a handicapped or eccentric spouse.... They are attracted
because their intellects work on a similar wavelength."
That's not to say that geeks, even autistic ones,
are attracted only to other geeks. Compensatory unions of opposites also thrive along the continuum, and in the last 10 years,
geekitude has become sexy and associated with financial success. The lone-wolf programmer may be the research director of
a major company, managing the back end of an IT empire at a comfortable remove from the actual clients. Says Bryna Siegel,
author of The World of the Autistic Child and director of the PDD clinic at UCSF, "In another historical time, these
men would have become monks, developing new ink for early printing presses. Suddenly they're making $150,000 a year with stock
options. They're reproducing at a much higher rate."
Genetic hypotheses like these don't rule out
environmental factors playing a role in the rising numbers. Autism is almost certainly not caused by the action of a single
gene, but by some orchestration of multiple genes that may make the developing child more susceptible to a trigger in the
environment. One consequence of increased reproduction among people carrying some of these genes might be to boost "genetic
loading" in successive generations - leaving them more vulnerable to threats posed by toxins in vaccines, candida, or any
number of agents lurking in the industrialized world.
At clinics and schools in the Valley, the observation
that most parents of autistic kids are engineers and programmers who themselves display autistic behavior is not news. And
it may not be news to other communities either. Last January, Microsoft became the first major US corporation to offer its
employees insurance benefits to cover the cost of behavioral training for their autistic children. One Bay Area mother told
me that when she was planning a move to Minnesota with her son, who has Asperger's syndrome, she asked the school district
there if they could meet her son's needs. "They told me that the northwest quadrant of Rochester, where the IBMers congregate,
has a large number of Asperger kids," she recalls. "It was recommended I move to that part of town."
For Dov's parents, Jonathan Shestack and Portia
Iversen, Silicon Valley is the only place on Earth with enough critical mass of supercomputing resources, bio-informatics
expertise, genomics savvy, pharmaceutical muscle, and VC dollars to boost autism research to the next phase. For six years,
the organization they founded, Cure Autism Now, has led a focused assault on the iron-walled fortress of the medical establishment,
including the creation of its own bank of DNA samples, available to any scientist in the field on a Web site called the Autism
Genetic Resources Exchange (see "The Citizen Scientists," Wired 9.09, page 144).
At least a third of CAN's funding comes from
donors in the Valley. Now Shestack and Iversen want to deliver the ultimate return on that investment: better treatments,
smarter assistive technology - and, eventually, a cure.
"We have the human data," says Shestack. "Now
we need the brute-force processing power. We need high-density SNP mapping and microarray analysis so we can design pharmaceutical
interventions. We need Big Pharma to wake up to the fact that while 450,000 people in America may not be as large a market
as for cholesterol drugs, we're talking about a demand for new products that will be needed from age 2 to age 70. We need
new technology that measures modes of perception, and tools for neural retraining. And we need a Web site where families with
a newly diagnosed kid can plug into a network of therapists in their town who have been rated by buyers - just like eBay."
The ultimate hack for a team of Valley programmers
may turn out to be cracking the genetic code that makes them so good at what they do. Taking on that challenge will require
extensive use of technology invented by two people who think in pictures: Bill Dreyer, who invented the first protein sequencer,
and Carver Mead, the father of very large scale integrated circuits. As Dreyer explains, "I think in three-dimensional Technicolor."
Neither Mead nor Dreyer is autistic, but there is a word for the way they think - dyslexic. Like autism, dyslexia seems
to move down genetic pathways. Dreyer has three daughters who think in Technicolor.
One of the things that Dan Geschwind, director
of the neurogenetics lab at UCLA, finds fascinating about dyslexia and autism is what they suggest about human intelligence:
that certain kinds of excellence might require not just various modes of thinking, but different kinds of brains.
"Autism gets to fundamental issues of how we
view talents and disabilities," he says. "The flip side of dyslexia is enhanced abilities in math and architecture. There
may be an aspect of this going on with autism and assortative mating in places like Silicon Valley. In the parents, who carry
a few of the genes, they're a good thing. In the kids, who carry too many, it's very bad."
Issues like this were at the crux of arguments
that Bryna Siegel had with Bruno Bettelheim in a Stanford graduate seminar in the early '80s, published in Bettelheim's The
Art of the Obvious. (Siegel's name was changed to Dan Berenson.) The text makes poignant reading, as two paradigms of
scientific humanism clash in the night. Siegel told "Dr. B" that she wanted to do a large study of children with various developmental
disorders to search for a shared biochemical defect. Bettelheim shot back that if such a marker were to be uncovered it would
dehumanize autistic children, by making them essentially different from ourselves.
Still an iconoclast, Siegel questions whether
a "cure" for autism could ever be found. "The genetics of autism may turn out to be no simpler to unravel than the genetics
of personality. I think what we'll end up with is something more like, 'Mrs. Smith, here are the results of your amnio. There's
a 1 in 10 chance that you'll have an autistic child, or the next Bill Gates. Would you like to have an abortion?'"
For UCSF neurologist Kirk Wilhelmsen - who describes
himself and his son as being "somewhere on that grand spectrum" - such statements cut to the heart of the most difficult issue
that autism raises for society. It may be that autistic people are essentially different from "normal" people, he says,
and that it is precisely those differences that make them invaluable to the ongoing evolution of the human race.
"If we could eliminate the genes for things like
autism, I think it would be disastrous," says Wilhelmsen. "The healthiest state for a gene pool is maximum diversity of things
that might be good."
One of the first people to intuit the significance
of this was Asperger himself - weaving his continuum like a protective blanket over the young patients in his clinic as the
Nazis shipped so-called mental defectives to the camps. "It seems that for success in science and art," he wrote, "a dash
of autism is essential."
For all we know, the first tools on earth might
have been developed by a loner sitting at the back of the cave, chipping at thousands of rocks to find the one that made the
sharpest spear, while the neurotypicals chattered away in the firelight. Perhaps certain arcane systems of logic, mathematics,
music, and stories - particularly remote and fantastic ones - have been passed down from phenotype to phenotype, in parallel
with the DNA that helped shape minds which would know exactly what to do with these strange and elegant creations.
Hanging on the wall of Bryna Siegel's clinic
in San Francisco is a painting of a Victorian house at night, by Jessy Park, an autistic woman whose mother, Clara Claiborne
Park, wrote one of the first accounts of raising a child with autism, The Siege. Now 40, Jessy still lives at home.
In her recent book, Exiting Nirvana, Clara writes of having come to a profound sense of peace with all the ways that
Jessy sent Siegel a letter with her painting,
in flowing handwriting and words that are - there is no other way to say it - marvelously autistic. "The lunar eclipse with
92% cover is below Cassiopeia. In the upper right-hand corner is Aurora Borealis. There are three sets of six-color pastel
rainbow on the shingles, seven-color bright rainbow on the clapboards next to the drain pipe, six-color paler pastel rainbow
around the circular window, six-color darker pastel rainbow on the rosette ..."
But the words aren't the thing. Jessy's painting
is the thing. Our world, but not our world. A house under the night sky shining in all the colors of the spectrum.
Autism researcher Simon Baron-Cohen on "mindblind"
engineers, hidden pictures, and a future designed for people with Asperger's.
Interview by Oliver
Sally has a marble. She puts her marble into the box,
and then she goes outside. Anne comes in, takes the marble out of the box, and puts it in her basket. When Sally comes back,
where will she look for the marble?
By the age of 4 or so, most children who watch this
scenario played out by puppets - including children with Down's syndrome and other developmental problems - know the answer.
But some do not. They do not understand that what they know and what Sally knows are different, that Sally has a mind of her
own. The children who expect Sally to look in the basket, because they know that's where the marble is and can't believe that
she doesn't, are the ones likely to be diagnosed with autism or its relative, Asperger's syndrome.
Simon Baron-Cohen, a tall, soft-spoken clinical psychologist
at the University of Cambridge, has spent two decades studying autism - how to help the people disabled by it and what the
syndrome tells us about normal minds. Baron-Cohen is interested in the brain and in genes (his group at Cambridge is collaborating
with geneticists in new studies of Asperger's syndrome), but his key interest is in minds: their workings, their malfunctions,
their origins, and their care.
From the beginning, his work has been centered around
what's called a theory of mind - that is, an innate ability to understand other people as having feelings, intentions, and
pictures of the world that are not the same as our own. A theory of mind is a basic requirement for empathy or, for that matter,
deceit. And according to an approach to autism that has become increasingly influential in Britain over the past decade or
so, a theory of mind is what people disabled by autism and its related conditions lack. They are, in Baron-Cohen's nicely
coined word, "mindblind." More recently, Baron-Cohen has looked at another aspect of the autistic mind: a proclivity for systemizing
- for understanding and constructing rules-based systems to explain our experience. To understand the social world, such rules
are a poor replacement for a theory of mind; to understand the natural world, they are very useful.
It is another focus of his research, though, that
has made Baron-Cohen an occasionally controversial figure. In 1997, he and his colleagues looked for and found some evidence
of a link between autism in children and a propensity for engineering in their parents. Further work with students at Cambridge
has suggested that engineers, mathematicians, physicists, and computer scientists have a way of thinking that is quantifiably
"more autistic" than that of their peers in the humanities, arts, and social sciences. To some, this sounds like a medicalized
stigmatization of nerdiness. Others fear that linking children's disabilities to their parents' inclinations is a new way
of blaming the parent. Baron-Cohen rejects this. He argues that linking the styles of thinking that society has come to value
is helpful, not harmful. Minds come in different shapes just as bodies do, and we must learn to accept that. Indeed, we must
learn to value it.
Wired: How common is autism?
Baron-Cohen: Current studies suggest that the incidence
is about 1 in 200 children for all disorders in the autism spectrum. That's much, much higher than the textbooks quote: Textbooks
say 4 in 10,000.
Why the gap?
It's probably due to growing public awareness. Also,
we're now looking for children at the higher end of functioning, children with autism who have normal intelligence. In the
past we tended to look in special schools or in child psychiatric clinics for children with learning disabilities and a range
of other problems; nowadays we look in the community at large.
Is there a danger that broadening the definition of
autism might trivialize the problems of those with profound disabilities, equating a severe disorder that requires lifetime
care with something much milder?
A PhD student with Asperger syndrome might be just
as disabled as a person with learning disabilities and classic autism. Both may end up in need of considerable support, though
of different kinds. The people being diagnosed at a rate of 4 in 10,000 needed more clinical support than the 1 in 200 diagnosed
today. But I'd be hesitant to say that those cases were more severe.
Autism spectrum disorders are linked to other problems:
Most of the people we see in our Asperger clinic for adults also suffer from clinical levels of depression. At any point on
the spectrum, a diagnosis of Asperger is only given if the symptoms are causing a significant impairment to how someone functions.
So "mild" cases, which don't really interfere, should not be diagnosed at all.
You argue that people with autism lack an innate capacity
to draw inferences about what others know or think or feel - a "theory of mind." Is this ability separate from the ability
to think about the world in general?
One of the papers I've written with colleagues describes
three individuals who have Asperger syndrome. One won the Olympiad in physics and math right through his teens, and when presented
with a physics or math problem he could solve it very, very rapidly. Yet he couldn't decode facial expressions of emotion
in photographs. The second was a professor of mathematics, the winner of the equivalent of the Nobel Prize for math, the Fields
Medal. No difficulties at all in abstract reasoning, but given photographs of facial expressions that somebody without any
mathematical ability could read easily, he performed significantly below the average level. The third example was a computer
scientist who could write programs without any effort at all, but again, just looking at a face, he couldn't tell what a person
was feeling. It can't be a general problem that's affecting the mind as a whole. It must be a specific deficit.
These ideas have helped you develop tests for autism
that can be administered surprisingly early in a child's development.
Yes, the Checklist of Autism in Toddlers is used by
doctors and health visitors during the routine 18-month checkup, looking for the absence of two key behaviors that should
be there if the child is developing normally. One is the pointing gesture; normally children point at things to communicate.
Autistic children don't do that. If they point at all, it's to request something, but a normal child will point just to share
interest, as if to say, "Look at that." The pointing gesture is a great piece of evidence for the theory-of-mind approach
because, when you point at something, you have to take into account that somebody else may not have seen what you've seen,
that somebody else may be interested to see what you've seen. It's about sharing minds.
The other key behavior is pretend play. By that age,
in normal cases, children are pretending in an imaginative way. They'll pick up an object and attribute properties to it that
it doesn't have; they'll pretend a pen is a spoon and feed themselves. In children with autism, their play is much more reality-based.
They're interested in how things work.
So if they want to play with a telephone, they'll pick
up a telephone.
Yes, but they won't have an imaginary dialog - they'll
try to figure out what the buttons do.
Parents sometimes say they feel that the autism begins
after this stage of development. If the problem is innate, how do you explain that?
It could be that around the time of joining a peer
group, between 18 months and 2 years old, the child increasingly recognizes that he or she doesn't understand the dynamics
of even a small social group - three or four kids - and gives up trying. The other thing is language development. In the normal
case, children learn words in a very social way; they hear a new word, "tape recorder," and see that the speaker is looking
at that object on the table, and they're able to work out that the word they just heard must map onto that object as opposed
to another one.
And people with autism don't do that.
No. They don't use the direction of people's gazes
as a cue to breaking the code of language.
Does this sort of insight help parents and caregivers?
It immediately suggests a method of special education
or intervention. If the child isn't naturally learning how to recognize people's feelings and how to attribute intentions,
then he or she will benefit from being taught those things in a very stepwise way. We've produced a book aimed at teaching
primary-school children this way. Now we're developing a CD-ROM that will contain photographs of actors producing every known
human expression of emotion with their faces and voices. It will be like having an electronic encyclopedia of emotion to consult.
So by being explicit enough about things, one can get
For many individuals with autism, when it's pointed
out to them that they have hurt somebody's feelings, they feel very bad about it. But they wouldn't know how to avoid doing
it in the future without formulating an explicit rule.
Along with mindblindness, you've studied the propensity
in people with autism to systemize. But the idea that there might be a trade-off between these two abilities - between having
a theory of mind and having a capacity to imagine or construct rule systems - sounds odd. The mind's not a zero-sum game.
It's not that there is necessarily any trade-off or
compensation. The new look at autism just suggests that there are two factors, not one. There are difficulties in "mind reading,"
and at the same time, possibly independently, an intact or even superior talent for understanding systems.
But if the two are truly independent, why do they crop
It may be true in the case of autism that if you start
off with a deficit in terms of empathy or mind reading, you've just got more time to devote to understanding the world by
So the enhanced systemizing could be a response to the
primary deficit, like upper body strength in a paraplegic using a wheelchair.
Yes, that might be.
Autism is now seen as largely genetic in origin. But
that leads to a seeming contradiction: One would expect genes that cause the disability not to be very good at getting transmitted
to future generations.
Everything seems to be conspiring against the genes
to persist, because they're interfering with social relationships, which are usually a prerequisite for reproduction. But
if the genes for autism are persisting in the gene pool, it may be that in milder forms attributes of autism are adaptive.
They're maladaptive in some circumstances - in conditions where social sensitivity is important - but they may be very adaptive
in other environments, for example where high systemizing might be needed.
This led you to look at the parents of people with autism,
and in some early research you found that, like their children, these parents are better than average at "embedded figures"
tests, which involve picking specific geometrical shapes out of complex pictures. Did that surprise you?
I was impressed by the degree of talent. Among both
individuals with high-functioning autism or Asperger and their parents, many are superfast at spotting details. You hardly
have time to get the experimental materials out on the table before they've spotted the target. You've hardly managed to get
the stopwatch going. The normal brain, as it were, takes much longer.
Do you think they are doing the same thing someone with
a normal brain does, only faster, or performing a different sort of visual search?
It's impossible to know just from these studies. In
a different task, called the block design task, where you have to construct a pattern from individual elements, autistic people
are faster irrespective of whether or not the design they're copying has been pre-fragmented, whereas normal people find it
easier with the pre-fragmentation. In the person with autism, the brain may already be seeing the part and be less distracted
by the whole, and in the person without autism the brain may have to set aside its picture of the whole to analyze the detail.
There may be two different strategies at play.
Would that explain aspects of autism beyond the visual
Some people have suggested that when it comes to understanding
the social world, it pays to be good at gestalt processing, because the social world is not about attention to detail - it's
about a broad-brush approach. It's not about the fact that a person's hand is moving through space and you're tracking it
frame by frame; it's about the global interpretation that he wants a drink. So it could be that all the theory-of-mind problems
are just a downstream consequence of difficulties in getting the gist, getting the gestalt.
Further work on the relatives of children with autism
showed that the parents had a more-than-chance likelihood of being engineers, compared with the parents of children with Tourette's
syndrome or Down's syndrome.
Yes, there was significant over-representation of
engineering among the fathers and grandfathers. The rate was about 12 percent, whereas, in the general population among males,
the rate of engineering is about 5 percent. So that is statistically significant, but it has to be treated with caution. It
is easy to misinterpret the result, saying there is a strong link between being an engineer and having a child with autism,
whereas in fact all it shows is that 12 percent of fathers, rather than 5 percent, worked in engineering.
Does this mean that only the father's genes count?
No. Most of the mothers worked in the home and so
we don't know what path they would have followed. There's no evidence for a link to sex as yet.
Is there other evidence for a link to engineering?
We did a study of students, in Cambridge, split between
the natural scientists and the humanities students. The study looked at the likelihood of having a relative with autism. And
what we found was that the students in the disciplines of mathematics, engineering, and physics had a higher likelihood of
having an autistic relative - a sibling or a parent's sibling, or a first cousin. We asked about other conditions, too, to
check that we were controlling for reporting bias, but we found that autism was the only disorder, among a set of six, that
was significantly associated with disciplines that require a talent for systemizing.
How have your colleagues in engineering reacted to this?
We've had a mixed reaction. A professional magazine
for engineers picked up the story, and we had one or two letters that suggested this was simply perpetuating an image of engineers
as socially inept. But we had a lot of letters from people saying, for example, that they had an autistic child and that they
had engineering going back many generations in their families. So it was bound to be a sensitive issue, which is why we're
at pains to stress what you can and can't conclude from this.
Can you conclude that engineers, physicists, mathematicians,
and the like have a higher relative risk of a child with autism?
No, because we haven't done that study. All we've
found is that if you take a group of people studying engineering, they tend to score slightly higher in terms of number of
autistic traits, but we don't know that they are at greater risk of having a child with autism.
Surely, though, that is the implication of the finding
that children with autism are more likely to have an engineer as a parent.
That is why I draw attention to it being only 12 percent;
88 percent of the fathers of children with autism are not engineers, and it probably follows that the majority of engineers
have no link with autism.
If parents have some attributes associated with autism,
does that have any developmental effects on the autistic child?
Possibly, but that may not be bad. Let's say there
was a father who had quite an obsessive interest in, I don't know, bird-watching. He could tell you not just the names of
all the species that tend to migrate through his part of the world but when they migrate and patterns of coloration and all
that. If the child had a similar way of thinking - liked to collect information on a category of the world in a complete way
- you could have a very beautiful opportunity for a father and a son to go out bird-watching, with their minds working in
a very similar way. A normal child, on the other hand, might get quite bored.
What are the implications of finding certain professional
aptitudes linked to autism?
Mainstream education expects children to be all-rounders,
to be good at socializing on the playground and good in the classroom at doing math and science. That's just unrealistic -
children come in all shapes and sizes. So part of what has to happen is a change in expectations. None of us are all-rounders,
especially when we get to higher levels and can't maintain every skill at an equivalent level.
Are there role models for people with autism?
A lot of people with autism haven't yet come out or
been recognized. There are people who suspect that Bobby Fischer has autism, and he may be a good role model for chess players.
It's very hard when you don't have definite diagnoses, and it's irresponsible to be diagnosing at a distance; a diagnosis
takes a proper clinical assessment.
So I guess I can't ask about Bill Gates. There's been
a suggestion that Sherlock Holmes might be a candidate - great at systemizing, not misled by the seemingly obvious gist of
It's a nice example, but all you can do is speculate.
If you can't be drawn to speculate about that, how about
this: Computers make some parts of the world more rules-driven; does that mean the world is becoming a better place in which
to have an autistic disorder?
Yes. There's a niche now for people with that sort
of profile. There always was a niche, otherwise the genes would have died out, but maybe that niche is now much more accessible.
Monday, Apr. 29, 2002
The Secrets of Autism
The number of children diagnosed with autism and Asperger's in the U.S. is exploding. Why?
Tommy Barrett is a dreamy-eyed fifth-grader
who lives with his parents, twin brothers, two cats and a turtle in San Jose, Calif., the heart of Silicon Valley. He's an
honor-roll student who likes math and science and video games. He's also a world-class expert on Animorph and Transformer
toys. "They're like cars and trains and animals that transform into robots or humans — I love them!" he shouts exuberantly.
And that is sometimes a problem. For
a time, in fact, Tommy's fascination with his toys was so strong that when they weren't around he would pretend to be the
toys, transforming from a truck into a robot or morphing into a kitten. He would do this in the mall, in the school playground
and even in the classroom. His teachers found this repetitive pantomime delightful but disturbing, as did his mother Pam.
By that point, there were other worrisome signs. Pam Barrett recalls that as a 3-year-old, Tommy was a fluent, even voluble
talker, yet he could not seem to grasp that conversation had reciprocal rules, and, curiously, he avoided looking into other
people's eyes. And although Tommy was obviously smart — he had learned to read by the time he was 4 — he was so
fidgety and unfocused that he was unable to participate in his kindergarten reading group.
When Tommy turned 8, his parents finally
learned what was wrong. Their bright little boy, a psychiatrist informed them, had a mild form of autism known as Asperger
syndrome. Despite the fact that children with Asperger's often respond well to therapy, the Barretts, at that moment, found
the news almost unbearable.
That's because just two years earlier
Pam and her husband Chris, operations manager of a software-design company, had learned that Tommy's twin brothers Jason and
Danny were profoundly autistic. Seemingly normal at birth, the twins learned to say a few words before they spiraled into
their secret world, quickly losing the abilities they had just started to gain. Instead of playing with toys, they broke them;
instead of speaking, they emitted an eerie, high-pitched keening.
First Jason and Danny, now Tommy. Pam
and Chris started to wonder about their children's possible exposure to toxic substances. They started scanning a lengthening
roster of relatives, wondering how long autism had shadowed their family.
The anguish endured by Pam and Chris
Barrett is all too familiar to tens of thousands of families across North America and other parts of the world. With a seeming
suddenness, cases of autism and closely related disorders like Asperger's are exploding in number, and no one has a good explanation
for it. While many experts believe the increase is a by-product of a recent broadening of diagnostic criteria, others are
convinced that the surge is at least in part real and thereby cause for grave concern.
In the Barretts' home state of California,
for instance, the number of autistic children seeking social services has more than quadrupled in the past 15 years, from
fewer than 4,000 in 1987 to nearly 18,000 today. So common are cases of Asperger's in Silicon Valley, in fact, that Wired
magazine coined a cyber-age term for the disorder, referring to its striking combination of intellectual ability and social
cluelessness as the "geek syndrome." Wired went on to make a provocative if anecdotal case that autism and Asperger's were
rising in Silicon Valley at a particularly alarming rate — and asked whether "math-and-tech genes" might be to blame.
Yet the rise in autism and Asperger's
is hardly confined to high-tech enclaves or to the children of computer programmers and software engineers. It occurs in every
job category and socioeconomic class and in every state. "We're getting calls from school systems in rural Georgia," observes
Sheila Wagner, director of the Autism Resource Center at Atlanta's Emory University. "People are saying, 'We never had any
kids with autism before, and now we have 10! What's going on?'"
It's a good question. Not long ago,
autism was assumed to be comparatively rare, affecting as few as 1 in 10,000 people. The latest studies, however, suggest
that as many as 1 in 150 kids age 10 and younger may be affected by autism or a related disorder — a total of nearly
300,000 children in the U.S. alone. If you include adults, according to the Autism Society of America, more than a million
people in the U.S. suffer from one of the autistic disorders (also known as pervasive developmental disorders or pdds). The
problem is five times as common as Down syndrome and three times as common as juvenile diabetes.
No wonder parents are besieging the
offices of psychologists and psychiatrists in their search for remedies. No wonder school systems are adding special aides
to help teachers cope. And no wonder public and private research institutions have launched collaborative initiatives aimed
at deciphering the complex biology that produces such a dazzling range of disability.
In their urgent quest for answers, parents
like the Barretts are provoking what promises to be a scientific revolution. In response to the concerns they are raising,
money is finally flowing into autism research, a field that five years ago appeared to be stuck in the stagnant backwaters
of neuroscience. Today dozens of scientists are racing to identify the genes linked to autism. Just last month, in a series
of articles published by Molecular Psychiatry, scientists from the U.S., Britain, Italy and France reported that they are
beginning to make significant progress.
Meanwhile, research teams are scrambling
to create animal models for autism in the form of mutant mice. They are beginning to examine environmental factors that might
contribute to the development of autism and using advanced brain-imaging technology to probe the deep interior of autistic
minds. In the process, scientists are gaining rich new insights into this baffling spectrum of disorders and are beginning
to float intriguing new hypotheses about why people affected by it develop minds that are strangely different from our own
and yet, in some important respects, hauntingly similar.
AUTISM'S GENETIC ROOTS
was first described in 1943 by Johns Hopkins psychiatrist Leo Kanner, and again in 1944 by Austrian pediatrician Hans Asperger.
Kanner applied the term to children who were socially withdrawn and preoccupied with routine, who struggled to acquire spoken
language yet often possessed intellectual gifts that ruled out a diagnosis of mental retardation. Asperger applied the term
to children who were socially maladroit, developed bizarre obsessions and yet were highly verbal and seemingly quite bright.
There was a striking tendency, Asperger noted, for the disorder to run in families, sometimes passing directly from father
to son. Clues that genes might be central to autism appeared in Kanner's work as well.
But then autism research took a badly
wrong turn. Asperger's keen insights languished in Europe's postwar turmoil, and Kanner's were overrun by the Freudian juggernaut.
Children were not born autistic, experts insisted, but became that way because their parents, especially mothers, were cold
In 1981, however, British psychiatrist
Dr. Lorna Wing published an influential paper that revived interest in Asperger's work. The disorder Asperger identified,
Wing observed, appeared in many ways to be a variant of Kanner's autism, so that the commonalities seemed as important as
the differences. As a result, researchers now believe that Asperger and Kanner were describing two faces of a highly complicated
and variable disorder, one that has its source in the kaleidoscope of traits encoded in the human genome. Researchers also
recognize that severe autism is not always accompanied by compensatory intellectual gifts and is, in fact, far likelier to
be characterized by heartbreaking deficits and mental retardation.
Perhaps the most provocative finding
scientists have made to date is that the components of autism, far more than autism itself, tend to run in families. Thus
even though profoundly autistic people rarely have children, researchers often find that a close relative is affected by some
aspect of the disorder. A sister may engage in odd repetitive behavior or be excessively shy; a brother may have difficulties
with language or be socially inept to a noticeable degree. In similar fashion, if one identical twin has autism, there is
a 60% chance that the other will too and a better than 75% chance that the twin without autism will exhibit one or more autistic
How many genes contribute to susceptibility
to autism? Present estimates run from as few as three to more than 20. Coming under intensifying scrutiny, as the papers published
by Molecular Psychiatry indicate, are genes that regulate the action of three powerful neurotransmitters: glutamate, which
is intimately involved in learning and memory, and serotonin and gamma-aminobutiric acid (gaba), which have been implicated
in obsessive-compulsive behavior, anxiety and depression.
Those genes hardly exhaust the list
of possibilities. Among the suspects are virtually all the genes that control brain development and perhaps cholesterol and
immune-system function as well. Christopher Stodgell, a developmental toxicologist at New York's University of Rochester,
observes that the process that sets up the brain resembles an amazingly intricate musical score, and there are tens of thousands
of genes in the orchestra. If these genes do what they're supposed to do, says Stodgell, "then you have a Mozart's Concerto
for Clarinet. If not, you have cacophony."
A DIFFERENCE OF MIND
people often suffer from a bewildering array of problems — sensory disturbances, food allergies, gastrointestinal problems,
depression, obsessive compulsiveness, subclinical epilepsy, attention-deficit hyperactivity disorder. But there is, researchers
believe, a central defect, and that is the difficulty people across the autistic spectrum have in developing a theory of mind.
That's psychologese for the realization, which most children come to by the age of 4, that other people have thoughts, wishes
and desires that are not mirror images of their own. As University of Washington child psychologist Andrew Meltzoff sees it,
the developmental stage known as the terrible twos occurs because children — normal children, anyway — make the
hypothesis that their parents have independent minds and then, like proper scientists, set out to test it.
Children on the autistic spectrum, however,
are "mind blind"; they appear to think that what is in their mind is identical to what is in everyone else's mind and that
how they feel is how everyone else feels. The notion that other people — parents, playmates, teachers — may take
a different view of things, that they may harbor concealed motives or duplicitous thoughts, does not readily occur. "It took
the longest time for Tommy to tell a lie," recalls Pam Barrett, and when he finally did, she inwardly cheered.
Meltzoff believes that this lack can
be traced to the problem that autistic children have in imitating the adults in their lives. If an adult sits down with a
normal 18-month-old and engages in some interesting behavior — pounding a pair of blocks on the floor, perhaps, or making
faces — the child usually responds by doing the same. Young children with autism, however, do not, as Meltzoff and his
colleague Geraldine Dawson have shown in a series of playroom experiments.
The consequences of this failure can
be serious. In the early years of life, imitation is one of a child's most powerful tools for learning. It is through imitation
that children learn to mouth their first words and master the rich nonverbal language of body posture and facial expression.
In this way, Meltzoff says, children learn that drooping shoulders equal sadness or physical exhaustion and that twinkling
eyes mean happiness or perhaps mischievousness.
For autistic people — even high-functioning
autistic people — the ability to read the internal state of another person comes only after long struggle, and even
then most of them fail to detect the subtle signals that normal individuals unconsciously broadcast. "I had no idea that other people communicated through subtle eye movements," says autistic engineer Temple
Grandin, "until I read it in a magazine five years ago."
At the same time, it is incorrect to
say autistic people are cold and indifferent to those around them or, as conventional wisdom once had it, lack the high-level
trait known as empathy. Last December, when Pam Barrett felt overwhelmed and dissolved into tears, it was Danny, the most
deeply autistic of her children, who rushed to her side and rocked her back and forth in his arms.
Another misperception about people with
autism, says Karen Pierce, a neuroscientist at the University of California at San Diego, is the notion that they do not register
faces of loved ones as special — that, in the words of a prominent brain expert, they view their own mother's face as
the equivalent of a paper cup. Quite the contrary, says Pierce, who has results from a neuroimaging study to back up her contention.
Moreover, the center of activity in the autistic mind, she reported at a conference held in San Diego last November, turns
out to be the fusiform gyrus, an area of the brain that in normal people specializes in the recognition of human faces.
In a neuroimaging study, Pierce observed,
the fusiform gyrus in autistic people did not react when they were presented with photographs of strangers, but when photographs
of parents were substituted, the area lit up like an explosion of Roman candles. Furthermore, this burst of activity was not
confined to the fusiform gyrus but, as in normal subjects, extended into areas of the brain that respond to emotionally loaded
events. To Pierce, this suggests that as babies, autistic people are able to form strong emotional attachments, so their social
aloofness later on appears to be the consequence of a brain disorganization that worsens as development continues.
In so many ways, study after study has
found, autistic people do not parse information as others do. University of Illinois psychologist John Sweeney, for example,
has found that activity in the prefrontal and parietal cortex is far below normal in autistic adults asked to perform a simple
task involving spatial memory. These areas of the brain, he notes, are essential to planning and problem solving, and among
their jobs is keeping a dynamically changing spatial map in a cache of working memory. As Sweeney sees it, the poor performance
of his autistic subjects of the task he set for them — keeping tabs on the location of a blinking light — suggests
that they may have trouble updating that cache or accessing it in real time.
To Sweeney's collaborator, University
of Pittsburgh neurologist Dr. Nancy Minshew, the images Sweeney has produced of autistic minds in action are endlessly evocative.
They suggest that essential connections between key areas of the brain either were never made or do not function at an optimal
level. "When you look at these images, you can see what's not there," she says, conjuring up an experience eerily akin to
looking at side-by-side photographs of Manhattan with and without the Twin Towers.
A MATTER OF MISCONNECTIONS
autism start as a glitch in one area of the brain — the brainstem, perhaps — and then radiate out to affect others?
Or is it a widespread problem that becomes more pronounced as the brain is called upon to set up and utilize increasingly
complex circuitry? Either scenario is plausible, and experts disagree as to which is more probable. But one thing is clear:
very early on, children with autism have brains that are anatomically different on both microscopic and macroscopic scales.
For example, Dr. Margaret Bauman, a
pediatric neurologist at Harvard Medical School, has examined postmortem tissue from the brains of nearly 30 autistic individuals
who died between the ages of 5 and 74. Among other things, she has found striking abnormalities in the limbic system, an area
that includes the amygdala (the brain's primitive emotional center) and the hippocampus (a seahorse-shaped structure critical
to memory). The cells in the limbic system of autistic individuals, Bauman's work shows, are atypically small and tightly
packed together, compared with the cells in the limbic system of their normal counterparts. They look unusually immature,
comments University of Chicago psychiatrist Dr. Edwin Cook, "as if waiting for a signal to grow up."
An intriguing abnormality has also been
found in the cerebellum of both autistic children and adults. An important class of cells known as Purkinje cells (after the
Czech physiologist who discovered them) is far smaller in number. And this, believes neuroscientist Eric Courchesne, of the
University of California at San Diego, offers a critical clue to what goes so badly awry in autism. The cerebellum, he notes,
is one of the brain's busiest computational centers, and the Purkinje cells are critical elements in its data-integration
system. Without these cells, the cerebellum is unable to do its job, which is to receive torrents of information about the
outside world, compute their meaning and prepare other areas of the brain to respond appropriately.
Several months ago, Courchesne unveiled
results from a brain-imaging study that led him to propose a provocative new hypothesis. At birth, he notes, the brain of
an autistic child is normal in size. But by the time these children reach 2 to 3 years of age, their brains are much larger
than normal. This abnormal growth is not uniformly distributed. Using mri-imaging technology, Courchesne and his colleagues
were able to identify two types of tissue where this mushrooming in size is most pronounced.
These are the neuron-packed gray matter
of the cerebral cortex and white matter, which contains the fibrous connections projecting to and from the cerebral cortex
and other areas of the brain, including the cerebellum. Perhaps, Courchesne speculates, it is the signal overload caused by
this proliferation of connections that injures the Purkinje cells and ultimately kills them. "So now," says Courchesne, "a
very interesting question is, What's driving this abnormal brain growth? If we could understand that, then we might be able
to slow or stop it."
A proliferation of connections between
billions of neurons occurs in all children, of course. A child's brain, unlike a computer, does not come into the world with
its circuitry hard-wired. It must set up its circuits in response to a sequence of experiences and then solder them together
through repeated neurological activity. So if Courchesne is right, what leads to autism may be an otherwise normal process
that switches on too early or too strongly and shuts off too late — and that process would be controlled by genes.
Currently Courchesne and his colleagues
are looking very closely at specific genes that might be involved. Of particular interest are the genes encoding four brain-growth
regulators that have been found in newborns who go on to develop mental retardation or autism. Among these compounds, as National
Institutes of Health researcher Dr. Karin Nelson and her colleagues reported last year, is a potent molecule known as vasoactive
intestinal peptide. vip plays a role not only in brain development but in the immune system and gastrointestinal tract as
well, a hint that other disorders that so frequently accompany autism may not be coincidental.
The idea that there might be early biomarkers
for autism has intrigued many researchers, and the reason is simple. If one could identify infants at high risk, then it might
become possible to monitor the neurological changes that presage the onset of behavioral symptoms, and someday perhaps even
intervene in the process. "Right now," notes Michael Merzenich, a neuroscientist at the University of California, San Francisco,
"we study autism after the catastrophe occurs, and then we see this bewildering array of things that these kids can't do.
What we need to know is how it all happened."
The genes that set the stage for autistic
disorders could derail developing brains in a number of ways. They could encode harmful mutations like those responsible for
single-gene disorders — cystic fibrosis, for instance, or Huntington's disease. They could equally well be garden-variety
variants of normal genes that cause problems only when they combine with certain other genes. Or they could be genes that
set up vulnerabilities to any number of stresses encountered by a child.
A popular but still unsubstantiated
theory blames autism on the MMR (measles, mumps and rubella) vaccine, which is typically given to children at
around 15 months. But there are many other conceivable culprits. Researchers at the University of California at Davis have just launched a
major epidemiological study that will test the tissues of both autistic and nonautistic children for residues of not only
mercury but also pcbs, benzene and other heavy metals. The premise is that some children may be genetically more susceptible
than others to damage by these agents, and so the study will also measure a number of other genetic variables, like how well
these children metabolize cholesterol and other lipids.
Drugs taken by some pregnant women are
also coming under scrutiny. At the University of Rochester, embryologist Patricia Rodier and her colleagues are exploring
how certain teratogens (substances that cause birth defects) could lead to autism. They are focusing on the teratogens' impact
on a gene called hoxa1, which is supposed to flick on very briefly in the first trimester of pregnancy and remain silent ever
after. Embryonic mice in which the rodent equivalent of this gene has been knocked out go on to develop brainstems that are
missing an entire layer of cells.
In the end, it is not merely possible
but likely that scientists will discover multiple routes — some rare, some common; some purely genetic, some not —
that lead to similar end points. And when they do, new ideas for how to prevent or correct autism may quickly materialize.
A decade from now, there will almost certainly be more effective forms of therapeutic intervention, perhaps even antiautism
drugs. "Genes," as the University of Chicago's Cook observes, "give you targets, and we're pretty good at designing drugs
if we know the targets."
Paradoxically, the very thing that is
so terrible about autistic disorders — that they affect the very young — also suggests reason for hope. Since
the neural connections of a child's brain are established through experience, well-targeted mental exercises have the potential
to make a difference. One of the big unanswered questions, in fact, is why 25% of children with seemingly full-blown autism
benefit enormously from intensive speech- and social-skills therapy — and why the other 75% do not. Is it because the
brains of the latter are irreversibly damaged, wonders Geraldine Dawson, director of the University of Washington's autism
center, or is it because the fundamental problem is not being adequately addressed?
The more scientists ponder such questions,
the more it seems they are holding pieces of a puzzle that resemble the interlocking segments of Tommy Barrett's Transformer
toys. Put the pieces together one way, and you end up with a normal child. Put them together another way, and you end up with
a child with autism. And as one watches Tommy's fingers rhythmically turning a train into a robot, a robot into a train, an
unbidden thought occurs. Could it be that some dexterous sleight of hand could coax even profoundly autistic brains back on
track? Could it be that some kid who's mesmerized by the process of transformation will mature into a scientist who figures
out the trick?
Diet used to calm autism
Advocates say gluten,
casein stir symptoms
HOWELL -- Charlotte Clark's daughter
was diagnosed with autism when she was 3 years old. She was placed in a pre-primary impaired program for students with disabilities.
At age 4, Clark put her child on a special
diet and by the time she was old enough for kindergarten at age 5, she no longer required special-education services.
"Today, at age 7, my daughter is normal,
fine, and growing. She's a student-of-the-month, top-of-her-class, and takes karate," Clark said. "She's a bright young lady."
Clark, who has a master's degree in
education, founded the autism dietary intervention group in Livingston County two years ago after seeing the results of placing
her daughter on a gluten-free, casein-free diet.
The rate of autism diagnosis in the
United States has risen from one in 10,000 in 1940 to between 2 to 6 per 1,000 in 2001, according to the federal Centers for
Disease Control and Prevention.
The Livingston Educational Service Agency
reports serving 252 children identified as autistic in 2001-02, up from 43 in 1995-96.
Deanna Seng's 4-year-old son Andrew
was diagnosed with autism when he was 26 months old.
Sick with infections since birth, he
didn't eat, didn't sleep, hated to be touched, couldn't bear the feel of water and banged his head and screamed for hours
Andrew was evaluated by a team of specialists
from the Livingston Educational Services Agency and was diagnosed as autistic impaired with severe sensory problems.
"As soon as we had the diagnosis I started
researching and the first thing you learn is diet can have a huge impact," Seng said.
Seng began by giving Andrew whole-food
dietary supplements. She removed processed foods from his diet and worked on improving the nutritional quality of the foods
Andrew would eat.
In January 2002, when Andrew turned
3, Seng removed gluten and casein from his diet.
"We saw amazing results within a week
of reducing gluten and casein," Seng said. "His bus driver said what kind of miracle pill did we give him."
The diet works, according to the network
for dietary intervention, because many cases of autism result from an immune-system dysfunction that affects the body's ability
to break down the protein in milk -- casein -- and the protein in wheat -- gluten.
Eliminating the proteins eliminates
the symptoms, according to the diet's advocates.
"A lot of these kids have damaged systems,
so that partially digested proteins act as neuro-toxins," said Dr. Rick Ng of the Center for Holistic Medicine in West Bloomfield
Township. "The diet cannot hurt them and we've seen miracles with it."
But nutritional therapy is considered
alternative medicine. No insurance company will pay for nutrition testing or consultation and few conventional physicians
are trained in nutrition therapy, Ng said.
"The mothers are really taking this
into their hands because the medical profession has not given them what they need," Ng said.
"You cannot run a school that feeds
our children French fries, potato chips and pop for lunch and expect them to have great brain function."
The food service departments in county
schools follow the U.S. Department of Agriculture's regulations for accommodating children with special dietary needs.
They are required to follow a doctor's
prescription for all disabled students. Life-threatening allergies are defined as disabilities.
Special diets for nondisabled students
are decided on a case-by-case basis and must be accompanied by a physician's statement of needs.
"We have a form that parents take to
their physician and the physician prescribes the food substitutions we can make for the student," said Kathleen Kane, director
of food and nutrition services for the Fowlerville Community Schools.
"A lot of times people think we are
dietitians and we can prescribe the diet," Kane said. "We can't do that.
"Students need to be diagnosed by a
physician and the physician must designate what the student can and cannot have and we will follow that recommendation."
The most common food issues the districts
deal with are diabetes and lactose and peanut allergies.
They provide carbohydrate counts for
diabetics and substitute juice for milk in most cases. Some have peanut-free tables in lunchrooms. None reported requests
for gluten-free, casein-free meals.
"It's much easier to make my child lunch
and send it every day," Charlotte Clark said.
Linda Theil is a Metro Detroit free-lance
Survival In The Workplace
Because most of us must work for
a living, attention to surviving in the workplace is vital. I shall report my experiences.
After receiving my bachelor's in Music Education and Accounting &
Information Systems I set forth to work in a medium sized CPA firm. Boy was that a mistake. Thinking back to that time I realize
that the place was infested with NTs of the most virulent type. Probably all financial institutions are. At that time I was
not aware what I was getting into.
I was closely supervised and was expected fit in with all of these
accountant/business types. The business uniform is the suit and tie......which drove me nuts. I can't stand to wear a tie.
The only way I could survive was to ride my bicycle from where I lived (about 7 miles) to work and enjoy the out-of-doors
for an hour and a half each day. It took 45 minutes to get to work this way as opposed to the 2 hours by public transportation.
Made sense to me.
I kept my suit, tie, and shoes in the basement of where I worked
and changed out of my "civilian" clothes into the business uniform. The personnel officer actually told me that I had better
stop riding my bicycle and show up to work in "uniform." I was let go from that place after 3 months. They thought I was strange.
My next job was at a large bank as a portfolio accountant. I made
trades for, received interest and dividends for, and created regular financial reports for $750,000,000 of pension fund money.
I had now learned better how to blend into the business world. They tolerated my riding my bicycle to work. However, I was
miserable being involved in the business culture. I left this job after 15 months to teach business at the vocational and
The strange thing is, is that I find the STUDY of business, taxes,
the stock market, etc. fascinating. I also enjoy TEACHING business subjects.......but not as much as teaching music. I just
can't deal working with the type of people who are in this field.
I realized that teaching was for me. No close supervision. My supervisors
and students were closer to accepting me as myself then in any previous position. They actually respected that I rode my bicycle
to work. My next place of employment was at Katharine Gibbs, a finishing school for secretaries. [[**Danger, danger, Will
Robinson**-->> from Lost in Space.]] Too strict a dress code. I was let go from that place after two years.
When I got my current job as professor of music and computers three
and a half years ago, I thought I had died and gone to heaven. I could do what I loved and expend much less energy trying
to blend in. As long as the students are happy, learning what they are supposed to, the administration is happy too.
There are some people there who respect what I do for the school
and serve as mentors. They inform me of potential political blunders I may be about to make and are ready to help bail me
out if I get into trouble. It is often difficult for me to read the political wind of things and I'm terribly to bully-types
that cross my path.
Those of us in the Fine and Performing Arts are expected to be somewhat
quirky and that suits me fine. By the way, I don't have to wear a tie!!!!!! Some people at work may sense that I'm different
but 99.44% of the population there have no true sense of what I'm really about.
After this trip through various places of employment some things
became clear to me. These tenants must be followed (by me that is) in order to survive as a full-time employee of an organization.
- One must know themselves well enough to know where in the workplace
they fit in. I seriously misjudged that as I entered the business world. The conformity along with the suit & tie thing
just doesn't work for me.
- Close supervision of my day-to-day activities doesn't work for me.
I do much better if I'm given a task and a period of time to figure out what must be done; usually in a way that it hasn't
been done before.
- Find a mentor or mentors you can trust. They can save your employment
- Having an interest in a particular field doesn't mean that it is
good for you to work in.
- There is more to life than work. [[Really??]] Yup!! I'm still learning
Stimulus Overselectivity: Tunnel Vision in Autism
Written by Stephen M. Edelson, Ph.D.
Center for the Study of
Autism, Salem, Oregon
Stimulus overselectivity is a term used to describe a phenomenon
whereby a person focuses on only one aspect of an object or environment while ignoring other aspects. Many autistic individuals
appear to have this 'tunnel vision.' This phenomenon was first described in 1971 by Lovaas, Schreibman, Koegel and Rehm at
The literary works on autism contain numerous stories of how autistic
children 'tune in' to an object or a single aspect of an object while blocking out other parts of their environment. Some
professionals argue that this is the reason why parents often suspect their child of being deaf. Parents sometimes test their
child's hearing by banging pots and pans behind their child's back, and the child fails to react to this 'unexpected' sound.
However, in different situations, it is obvious that these children can hear, such as the case when child is quickly nearby
when a parent opens a candy wrapper.
Dr. Lovaas et. al first tested this concept of stimulus overselectivity
in autistic children by instructing each child to press a lever as soon as three different stimuli were presented at the same
time (i.e., a light, a sound, and a touch). When he/she pressed the lever, the child was rewarded with a piece of candy. Later,
in the testing condition, the three aspects of the complex stimulus were presented individually. The results showed that the
children pressed the lever when only one of the three stimuli were presented. For example, a child would press the lever when
a light was presented, but he/she did not press the lever when the sound was presented alone nor when the touch was presented
alone. Dr. Lovaas and his colleagues argued that during the initial learning phase, the autistic child attended to only one
of the three aspects of the complex stimulus rather than all three aspects.
The idea of responding to only one of many aspects or dimensions
of an object may make it difficult for the autistic child to learn about his/her world. For example, if a child is being taught
to differentiate between a fork and a spoon, the child may attend or focus on the color (a very salient aspect) rather than
the shape. In this case, the child will experience much difficulty when trying to decide which utensil to use.
We do not know why autistic individuals have this tunnel vision.
One theory states that these individuals are born with 'too much' concentration; and as a result, it is very difficult for
them to expand or widen their attention span. Another theory states that these individuals cannot process or attend to the
environment as a whole because it may become overwhelming, i.e., lead to overarousal. As a result, they may try to simplify
their life by focusing on only a small part of their worid.
Implications. Since it appears that many autistic individuals exhibit
stimulus overselectivity, it is important to help them direct their artention to relevant aspects of an object or the environment.
For example, when teaching an autistic child to select an apple from a bag of apples and oranges, the child should be instructed
to attend to color and texture. In contrast, when teaching the child to find the family car in a parking lot, the child should
direct his/her attention to the color and shape.
Learning Styles and Autism
Written by Stephen M. Edelson, Ph.D.
Center for the Study of Autism,
'Learning styles' is a concept which attempts to describe the methods
by which people gain information about their environment. People can learn through seeing (visually), hearing (auditorily),
and/or through touching or manipulating an object (kinesthetically or 'hands-on' learning). For example, looking at a picture
book or reading a textbook involves learning through vision; listening to a lecture live or on tape involves learning through
hearing; and pressing buttons to determine how to operate a VCR involves learning kinesthetically.
Generally, most people learn using two to three learning styles.
Interestingly, people can assess their own interests and lifestyle to determine the ways in which they obtain much of their
information about their environment. In my case, when I read a book, I can easily understand the text. In contrast, it is
difficult for me to listen to an audiotape recording of that book -- I just cannot follow the story line. Thus, I am a strong
visual learner, and a moderate, possibly poor, auditory learner. As far as kinesthetic learning, I am very good at taking
apart objects to learn how an object works, such as a vacuum cleaner or a computer.
One's learning style may affect how well a person performs in an
educational setting, especially from junior high on through college. Schools usually require both auditory learning (i.e.,
listening to a teacher) and visual learning (i.e., reading a textbook). If one is poor at one of these two ways of learning
sources, he/she will likely depend mostly on his/her strength (e.g., a visual learner may study the textbook rather than rely
on the lecture content). Using this logic, if one is poor at both visual and auditory learning, he/she may have difficulty
in school. Furthermore, one's learning style may be associated with one's occupation. For example, those individuals who are
kinesthetic learners may tend to have occupations involving their hands, such as shelf stockers, mechanics, surgeons, or sculptors.
Visual learners may tend to have occupations which involve processing visual information, such as data processors, artists,
architects, or manufacturing part sorters. Moreover, auditory learners may tend to have jobs which involve processing auditory
information, such as sales people, judges, musicians, 9-1-1 operators, and waiters/waitresses.
Based on my experience as well as those of my colleagues, it appears
that autistic individuals are more likely to rely on only one style of learning. By observing the person, one may be able
to determine his/her primary style of learning. For example, if an autistic child enjoys looking at books (e.g., picture books),
watching television (with or without sound), and tends to look carefully at people and objects, then he/she may be a visual
learner. If an autistic child talks excessively, enjoys people talking to him/her, and prefers listening to the radio or music,
then he/she may be an auditory learner. And if an autistic child is constantly taking things apart, opening and closing drawers,
and pushing buttons, this may indicate that the child is a kinesthetic or 'hands-on' learner.
Once a person's learning style is determined, then relying on this
modality to teach can greatly increase the likelihood that the person will learn. If one is not sure which learning style
a child has or is teaching to a group with different learning styles, then the best way to teach could be to use all three
styles together. For example, when teaching the concept 'jello,' one can display a package and bowl of jello (visual); describe
its features such as its color, texture, and use (auditory); and then let the person touch and taste it (kinesthetic).
One common problem evidenced by autistic children is running around
the classroom and not listening to the teacher. This child may not be an auditory learner; and thus, he/she is not attending
to the teacher's words. If the child is a kinesthetic learner, the teacher may choose to place his/her hands on the child's
shoulders and then guide the student back to his/her chair, or go to the chair and move it towards the student. If the child
learns visually, the teacher may need to show the child his/her chair or hand them a picture of the chair and gesture for
the child to sit down.
Teaching to the learning style of the student may make an impact
on whether or not the child can attend to and process the information which is presented. This, in turn, can affect the child's
performance in school as well as his/her behavior. Therefore, it is important that educators assess for learning style as
soon as an autistic child enters the school system and that they adapt their teaching styles in rapport with the strengths
of the student. This will ensure that the autistic child has the greatest chance for success in school.