Sunday, May 7, 2006
Inside the Autistic Mind
A wealth of new brain research--and poignant testimony from
people who have autism--is lifting the veil on this mysterious
condition
By CLAUDIA WALLIS
The road to Hannah's mind opened a few days before her 13th
birthday.
Her parents, therapists, nutritionists and teachers had spent
years preparing the way. They had moved mountains to improve
her sense of balance, her sensory perception and her overall
health. They sent in truckloads of occupational and physical
therapy and emotional support. But it wasn't until the fall of 2005
that traffic finally began to flow in the other direction. Hannah,
whose speech was limited to snatches of songs, echoed
dialogue and unintelligible utterances, is profoundly autistic, and
doctors thought she was most likely retarded. But on that
October day, after she was introduced to the use of a specialized
computer keyboard, Hannah proved them wrong. "Is there
anything you'd like to say, Hannah?" asked Marilyn Chadwick,
director of training at the Facilitated Communication Institute at
Syracuse University.
With Chadwick helping to stabilize her right wrist and her mother
watching, a girl thought to be incapable of learning to read or
write slowly typed, "I love Mom."
A year and a half later, Hannah sits with her tutor at a small
computer desk in her suburban home outside New York City.
Facilitated communication is controversial (critics complain that
it's often the facilitator who is really communicating), but it has
clearly turned Hannah's life around. Since her breakthrough, she
no longer spends much of her day watching Sesame Street and
Blue's Clues. Instead, she is working her way through high
school biology, algebra and ancient history. "It became obvious
fairly quickly that she already knew a lot besides how to read,"
says her tutor, Tonette Jacob.
During the silent years, it seems, Hannah was soaking up vast
storehouses of information. The girl without language had an
extensive vocabulary, a sense of humor and some unusual gifts.
One day, when Jacob presented her with a page of 30 or so
math problems, Hannah took one look, then typed all 30
answers. Stunned, Jacob asked, "Do you have a photographic
memory?" Hannah typed "Yes."
Like many people with autism, Hannah is so acutely sensitive to
sound that she'll catch every word of a conversation occurring
elsewhere in the house, which may account for much of her
knowledge. She is also hypersensitive to visual input. Gazing
directly at things is difficult, so she often relies on her almost
preternatural peripheral vision. Hannah's newfound ability to
communicate has enabled her intellect to flower, but it also has
a dark side: she has become painfully aware of her own autism.
Of this, she writes, "Reality hurts."

MORE THAN 60 YEARS AFTER AUTISM WAS first described by
American psychiatrist Leo Kanner, there are still more questions
than answers about this complex disorder. Its causes are still
uncertain, as are the reasons for the rapidly rising incidence of
autism in the U.S., Japan, England, Denmark and France. But
slowly, steadily, many myths about autism are falling away, as
scientists get a better picture of what's going on in the bodies
and brains of people with autism and as more of those who are
profoundly affected, like Hannah, are able to give voice to their
experience. Among the surprises:
o Autism is almost certainly, like cancer, many diseases with
many distinct causes. It's well known that there's a wide range in
the severity of symptoms--from profound disability to milder
forms like Asperger syndrome, in which intellectual ability is
generally high but social awareness is low. Indeed, doctors now
prefer the term Autistic Spectrum Disorders (ASD). But scientists
suspect there are also distinct subtypes, including an
early-onset type and a regressive type that can strike as late as
age 2.
o Once thought to be mainly a disease of the cerebellum--a
region in the back of the brain that integrates sensory and motor
activity, autism is increasingly seen as a pervasive problem with
the way the brain is wired. The distribution of white matter, the
nerve fibers that link diverse parts of the brain, is abnormal, but
it's not clear how much is the cause and how much the result of
autism.
o The immune system may play a critical role in the
development of at least some types of autism. This suggests
some new avenues of prevention and treatment.
o Many classic symptoms of autism--spinning, head banging,
endlessly repeating phrases--appear to be coping mechanisms
rather than hard-wired behaviors. Other classic symptoms--a
lack of emotion, an inability to love--can now be largely
dismissed as artifacts of impaired communication. The same
may be true of the supposedly high incidence of mental
retardation.
o The world of autism therapy continues to be bombarded by
cure-of-the-day fads. But therapists are beginning to sort out the
best ways to intervene. And while autism is generally a lifelong
struggle, there are some reported cases in which kids who were
identified as autistic and treated at an early age no longer exhibit
symptoms.

THE CURIOUS INCIDENCE
DR. THOMAS INSEL, DIRECTOR OF THE National Institute of
Mental Health (NIMH), which funds much of the nation's autism
research, remembers a time when the disorder was rarely
diagnosed. "When my brother trained at Children's Hospital at
Harvard in the 1970s, they admitted a child with autism, and the
head of the hospital brought all of the residents through to see,"
says Insel. "He said, 'You've got to see this case; you'll never see
it again.'"
Alas, he was mistaken. According to the Centers for Disease
Control and Prevention (CDC), about 1 in 166 American children
born today will fall somewhere on the autistic spectrum. That's
double the rate of 10 years ago and 10 times the estimated
incidence a generation ago. While some have doubted the new
figures, two surveys released last week by the CDC were in
keeping with this shocking incidence.
No one can say why the numbers have soared. Greater
awareness and public health campaigns to encourage earlier
diagnosis have surely played a part, since in the past, many
such children were probably labeled retarded or insane and
hidden in institutions. But environmental factors may also be
contributing to the spike. To get to the bottom of that mystery and
others, federal funding for autism research has more than tripled
in the past decade, to $100 million, although it pales in
comparison with the estimated $500 million spent on childhood
cancers, which affect fewer youngsters.
At the Center for Children's Environmental Health and Disease
Prevention at the University of California at Davis, toxicologist
Isaac Pessah is studying hair, blood, urine and tissue samples
from 700 families with autism. He's testing for 17 metals, traces
of pesticides, opioids and other toxicants. In March Pessah
caused a stir by releasing a study that showed that even the low
level of mercury used in vaccines preserved with thimerosal,
long a suspect in autism, can trigger irregularities in the
immune-system cells--at least in the test tube. But he does not
regard thimerosal (which has been removed from routine
childhood vaccines) as anything like a smoking gun. "There's
probably no one trigger that's causing autism from the
environmental side," says Pessah, "and there's no one gene
that's causing it."
Indeed, most researchers believe autism arises from a
combination of genetic vulnerabilities and environmental
triggers. An identical twin of a child with autism has a 60% to
90% chance of also being affected. And there's little doubt that a
vulnerability to ASD runs in some families: the sibling of a child
with autism has about a 10% chance of having ASD. Gene
scientists working on autism have found suspicious spots on
chromosomes 2, 5, 7, 11 and 17, but there are probably dozens
of genes at work. "We think there are a number of different
autisms, each of which could have a different cause and different
genes involved," says David Amaral, research director of the
MIND (Medical Investigation of Neurodevelopmental Disorders)
Institute, also at U.C. Davis.
Amaral is heading MIND's efforts to assemble a database of
clinical, behavioral and genetic information on 1,800 autistic
kids. One goal is to clearly define autism subtypes. "It's hard to
do the genetics if you're talking about four or five different
syndromes," says NIMH chief Insel. "Does the presence of
seizures define a separate illness? What about the kids who
seem to develop normally for the first year and a half and then
regress--is that a separate thing?" And what about the large
number of autistic kids who have serious gastrointestinal
problems and the many with immune dysfunctions--are they
distinct subtypes?
Amaral and colleague Judy Van de Water believe they are onto a
major discovery about the origins of at least one type of
autism--a strongly familial variety. They have detected aberrant
antibodies in the blood of kids from families with a pattern of
ASD and, significantly, in mothers with more than one autistic
child. "These antibodies are actually raised against proteins in
the fetal brain," says Amaral, who recently submitted a paper on
the discovery. The working hypothesis is that these antibodies
may alter brain development in ways that lead to autism. If
correct, the finding could lead to a maternal blood test and the
use of a therapy called plasmapheresis to clear antibodies from
the mother's blood. "You get a sense of the excitement," says
Amaral, "if you could prevent, say, 20% of kids from getting
autism. But we don't want to raise false hopes."

THE AUTISTIC BRAIN
WHETHER THE CAUSE IS MATERNAL antibodies, heavy metals
or something else, there is no question that the brains of young
children with autism have unusual features. To begin with, they
tend to be too big. In studies based on magnetic resonance
imaging (MRI) and basic tape-measure readings, neuroscientist
Eric Courchesne at Children's Hospital of San Diego showed
that while children with autism are born with ordinary-size brains,
they experience a rapid expansion by age 2--particularly in the
frontal lobes. By age 4, says Courchesne, autistic children tend
to have brains the size of a normal 13-year-old. This aberrant
growth is even more pronounced in girls, he says, although for
reasons that remain mysterious, only 1 out of 5 children with
autism is female. More recent studies by Amaral and others
have found that the amygdala, an area associated with social
behavior, is also oversize, a finding Amaral believes is related to
the high levels of anxiety seen in as many as 80% of people with
autism.
Harvard pediatric neurologist Dr. Martha Herbert reported last
year that the excess white matter in autistic brains has a specific
distribution: local areas tend to be overconnected, while links
between more distant regions of the brain are weak. The brain's
right and left hemispheres are also poorly connected. It's as if
there are too many competing local services but no long
distance.
This observation jibes neatly with imaging studies that look at
live brain activity in autistic people. Studies using functional MRI
show a lack of coordination among brain regions, says Marcel
Just, director of Carnegie Mellon's Center for Cognitive Brain
Imaging in Pittsburgh, Pa. Just has scanned dozens of 15- to
35-year-old autistic people with IQs in the normal range, giving
them thinking tasks as he monitors their brain activity. "One thing
you see," says Just, "is that [activity in] different areas is not
going up and down at the same time. There's a lack of
synchronization, sort of like a difference between a jam session
and a string quartet. In autism, each area does its own thing."
What remains unclear is whether the interconnectivity problem is
the result of autism or its cause. Perhaps all that excess wiring
is like the extra blood vessels around the heart of a person who
has suffered a heart attack--the body's attempt to route around a
problem. Or perhaps the abnormal growth of the brain has to do
with the immune system; researchers at Johns Hopkins have
found signs that autistic brains have chronic inflammation. "It's
impossible to tell the chicken from the egg at this point," Just
says.
Autistic people have been shown to use their brains in unusual
ways: they memorize alphabet characters in a part of the brain
that ordinarily processes shapes. They tend to use the visual
centers in the back of the brain for tasks usually handled by the
prefrontal cortex. They often look at the mouth instead of the eyes
of someone who is speaking. Their focus, says psychologist
Ami Klin of Yale's Child Study Center, is "not on the social
allegiances--for example, the longing gaze of a mother--but
physical allegiances--a mouth that moves."
Do these differences reflect fundamental pathology, or are they
downstream effects of some more basic problem? No one
knows. But the fact that early intervention brings better results for
children with ASD could be a clue that some of the odd brain
anatomy and activity are secondary--and perhaps even
preventable. Studies that look at whether early therapy might
help normalize the brain are beginning at York University in
Toronto, but results are probably years away.

AUTISM FROM THE INSIDE
IN THE MEANTIME, 300,000 SCHOOL-AGE American children
and many adults are attempting to get through daily life with
autism. The world has tended to hear from those who are
highest functioning, like Temple Grandin, the author and
Colorado State University professor of livestock behavior known
for designing humane slaughterhouses. But the voices of those
more severely affected are beginning to be heard as well. Such
was the case with Sue Rubin, 27, a college student from
Whittier, Calif., who has no functional speech and matches most
people's stereotyped image of a retarded person; yet she was
able to write the narration for the Oscar-nominated documentary
about her life, Autism Is a World.
What such individuals have to say about their experience is
offering new clues to their condition. It also conforms remarkably
to what scientists see inside their brains. By and large, people
with ASD have difficulty bringing different cognitive functions
together in an integrated way. There is a tendency to hyperfocus
on detail and miss the big picture. Coordinating volition with
movement and sensation can be difficult for some. Chandima
Rajapatirana, an autistic writer from Potomac, Md., offers this
account: "Helplessly I sit while Mom calls me to come. I know
what I must do, but often I can't get up until she says, 'Stand up,'"
he writes. "[The] knack of knowing where my body is does not
come easy for me. Interestingly I do not know if I am sitting or
standing. I am not aware of my body unless it is touching
something ... Your hand on mine lets me know where my hand
is. Jarring my legs by walking tells me I am alive."
Such descriptions shed light on seemingly self-destructive
behavior like biting, scratching, spinning and head banging. For
people like Rajapatirana, banging against a wall can be a useful
way to tell, quite literally, where their head is at. "Before we
extinguish [such behaviors], we need to understand what they
are telling us," writes Judith Bluestone, a Seattle-based therapist
who is autistic, in The Fabric of Autism.
In his new book Send in the Idiots, British journalist Kamran
Nazeer, who is also autistic, describes the need for repetitive
motions or words as a search for "local coherence" in a world
full of jarring randomness. He also conveys the social
difficulties: "Striking up conversations with strangers," he writes,
"is an autistic person's version of extreme sports." Indeed, at a
recent retreat for people with ASD, attendees wore colored tags
indicating their comfort level with spontaneous conversation: red
meant don't approach, yellow meant talk if we've already met,
green indicated, "I'd love to talk, but I'm not good at initiating."
Perhaps the worst fate for a person with ASD is to have a lively
intelligence trapped in a body that makes it difficult for others to
see that the lights are on. Neuroscientist Michael Merzenich at
the University of California, San Francisco, studied an autistic
boy who is unable to speak or even sustain his attention to a
task for more than a few moments, and yet is aware of his
condition and writes remarkable poetry. How many other autistic
kids, Merzenich wonders, "are living in a well where no one can
hear them"?
Luckily for Hannah, her voice and thoughts are being heard.
Since learning to type, she has begun to speak a few words
reliably--"yes," "no" and the key word "I"--to express her desires.
All this seems miraculous to her parents. "I was told to give up
and get on with my life," says her mother. Now she and her
husband are thinking about saving for college.
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With reporting by Dan Cray/Los Angeles

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