With rates rising, researchers race to find the cause of autism and better treatment

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AUTISM: MENTAL BLOCKED
With rates rising, researchers race to find the cause of autism and better treatment

By Scott LaFee
STAFF WRITER

January 9, 2002

A generation ago, the most common medical advice given to parents of an autistic child was institutionalization. With no effective treatment or cure, alternatives were few.

Those days are over. After years of being either ignored or misunderstood, autism is at last giving up its layered, tangled, contradictory secrets. Progress comes not a moment too soon.

Part One: Mental Blocked
Today in Quest

As rates of autism rise, research has determined that autistic brains develop differently from normal brains, but understanding about cause and treatment remains elusive. Skepticism and even downright hostility cloud the relationship between scientists and families with autistic children.

Part Two: Facing autism
Saturday in Family

First, the hard part is hearing that your child is autistic, say parents. The second struggle -- an ongoing one -- is getting the help the child needs. Families talk about the ramifications of the disease of "lost children."

For reasons not at all clear, the rate of reported cases of autism is rising. Between the years 1987 and 1998, the latest figures available, the California Department of Developmental Ser-vices -- a statewide agency providing services and support to children and adults with developmental disabilities -- reported a 273 percent increase in diagnosed cases of autism, one of several diseases in a related spectrum that also includes Asperger's syndrome and Pervasive Development Disorder.

California isn't unique. Studies in Illinois, Florida, England, Iceland and Japan have all recorded incidence rates of autism much higher than previously assumed, some worse than here. A decade ago, it was estimated that one child in 10,000 would become autistic; now the number has dropped to 1 in 500, and less. Autism activists have a word for what's happening: epidemic.

But is it? Like almost everything else about autism, indisputable facts about the disease are scarce. At least some of the increase is likely due to improved techniques for diagnosing the disease and a greater social willingness to do so.

But this fact is undeniably true: Autism is among the most tragic of neurological diseases. It typically strikes children between the ages of 18 and 36 months, erasing emergent personalities and cloaking what's left in an array of bizarre and impenetrable behaviors.

Some autistic persons, for example, cannot wear clothing because it feels as if it were sewn with glass shards. Others sense light as a constant shriek or experience touch as color. Some seem to feel nothing at all. The world for them is muted in cerebral gauze, unnoticed and uninteresting. A child with "classic autism" may lack the ability to relate to others, including family members. He may not comprehend the meaning of a smile or that others see the world differently.

A child with autism is trapped in a mental world of his own making and unmaking. He cannot explain what goes on inside his mind; we can only guess and gasp. "Not being able to speak was utter frustration," recalls Temple Grandin, a 44-year-old autistic woman, author and professor at Colorado State University. "If adults spoke directly to me, I could understand everything they said, but I could not get my words out ... My mother and teachers wondered why I screamed. Screaming was the only way I could communicate. Often I would logically think to myself, 'I am going to scream now because I want to tell somebody I don't want to do something.' "

Refrigerator mothers
The history of autism research has until recently been a sorry one.

It was not until 1943 that autism was first identified as a distinct neurological condition by Leo Kanner, a Johns Hopkins University psychiatrist. The cause of autism eluded Kanner, but a few years later, a Hungarian psychotherapist named Bruno Bettleheim claimed the source to be cold, unfeeling parents who drove their children into mental isolation.

However dubious-sounding now, Bettleheim's conclusions were widely disseminated over the next two decades. Autism was lumped with other psychological maladies. Research languished.

Bettleheim's notions eventually crumbled as advances in medical science and technology revealed more and more about how the human brain really works. But autism remains more enigmatic than not. Disability from the disease varies in the extreme. Some autistic persons require constant supervision and assistance, even permanent institutionalization. Others attend regular schools, find jobs, lead independent lives. Their affliction may not even be noticed by most people.

The brain broken down
Reduced to its essentials, the search for the cause of autism focuses upon two factors: genetics and the environment. Is autism passed down? Or is it provoked by something around us, a toxin or virus perhaps?

There is little doubt genetics plays a part. Three out of four autistic people are male. A family with one child with autism has a 5 percent to 10 percent chance of having another child with the disease, while a family with no autistic children has only a 0.1-to-0.2 percent chance of having a child with autism.

Most mainstream autism researchers believe the disease results from neurological problems that occur during prenatal development or in the first years of life when the newborn brain is still busily making new connections.

Patricia Rodier, an embryologist at the University of Rochester, has published papers describing structural abnormalities in an autistic brain that suggest something untoward happens to the embryonic brain just weeks after conception, well before most women even know they are pregnant.

Other researchers note that autistic brains have smaller memory, emotion and learning centers -- the amygdala, hippocampus and cerebellum -- than normal, a finding that suggests developmental disturbances in the third trimester of pregnancy or shortly after birth.

An autistic brain does not seem to function like a normal brain. At UCSD, neuroscientist Eric Courchesne and colleagues have used deep-brain scans to show that the fusiform gyrus, a part of the brain involved with face recognition, is not active when autistic children are shown pictures of faces. Instead, a different part of the brain lights up. Other studies report apparent malfunctions in the parietal lobes, which contain important sensory centers, and the corpus callosum, the bundle of nerve fibers connecting the brain's two halves.

Anatomical and functional abnormalities like these strongly suggest dysfunctional genes and misguided development. Some gene candidates have been identified -- a gene called WNT2 and another called HOXA1, both involved in early brain development and a third gene that codes for serotonin, a key protein used in neuron communications. It has been estimated that 10 or more genes may ultimately be implicated.

Shot in the dark
But bad genes are probably not the strict cause of autism -- at least not in all cases. Rather, certain genes and resulting brain development could predispose some children to autism if other factors come into play.

The identity of these factors is a subject of considerable controversy and consternation. They range from chemicals in the water supply to antibiotics to drugs used to induce labor.

Most notorious, though, is the widely disseminated belief that childhood vaccinations are the villain, specifically the measles/mumps/rubella or MMR injection, which is typically given to children shortly after the age of 1, a time when many parents say they first notice autistic behaviors.

"The vast majority of people with young kids with autism believe it was caused by a vaccine or by an overexposure to vaccines," said Bernard Rimland, founder of the San Diego-based Autism Research Institute.

According to Rimland and others, there are at least two scenarios in which vaccinations could lead to autism. In one, trimerosal -- a mercury-based preservative once widely used in some childhood vaccines -- causes neurological damage to infants who are eventually diagnosed as autistic. In the other scenario, the multitude of required vaccines, some containing weakened viruses, overwhelms the immature immune systems of vulnerable children, leading to brain infections by invasive, neuron-damaging microorganisms and chemicals.

"Kids today are inoculated with 22 vaccines, compared to just three in 1940," said Rimland. "I'm not against vaccines, though I don't think they do nearly as much good as some of the drug companies and the medical establishment would suggest. But I do ask, how many vaccines can a kid take before his immune system breaks down?"

Current concern over an autism-vaccine link erupted in 1998 after British research pointed to MMR as a potential culprit. But newer studies, responding to the uproar, have found no creditable evidence of a connection. In one study, researchers compared the number of Californian children diagnosed with autism between 1980 and 1994 with those who received the MMR vaccine during the same period. The vaccination rate, during this time, rose 14 percent while the autism rate grew many times faster. If there were a compelling link, the researchers concluded, the rates should have been much more similar.

Because the exact cause of autism remains unknown, people understandably cast around for possible reasons and answers. Vaccines are easy targets, experts say. Anecdotal stories abound about an apparent causal link, but the connection seems more coincidental than scientific.

"Who's to say there aren't things in the environment involved in autism," said B.J. Freeman, a professor of medical psychology at UCLA. "But one of them isn't MMR. If you look hard enough and know what to look for, you can see evidence of autistic symptoms in the first few months of life in 95 percent of cases."

Treating autism
There is no cure for autism, but its effects can be ameliorated. The key, according to Freeman, is identifying autistic children as soon as possible -- and acting.

In a small room, a young woman sits on the floor surrounded by toys and a small boy named Nikko. She picks up a toy -- a plastic train -- and rolls it across a table, hooting. Nico pays no attention at first, but then grabs for the train. The woman pulls it away, insisting first that Nikko tell her what it's called.

"What is this, Nikko? It's a train. Say train."

Nikko frowns, refuses to speak. Finally, he mutters something that sounds like train, grabs the toy and happily begins rolling it himself, back and forth. From behind a mirrored window, unseen by Nikko and the woman, Laura Schreibman watches the exchange. Beside her, two graduate students film the action and jot down times and behaviors.

Schreibman runs UCSD's Autism Research Laboratory, an ongoing investigation into various behavioral methods being used and promoted as treatments for autistic children like Nikko.

As all parents of autistic children learn, there is no shortage of alleged autism remedies. Some advocate dietary changes, such as boosting vitamin intake or eliminating certain food proteins like gluten from grains and casein from dairy products. Some require treatments that allegedly purge the body of heavy metals and other toxins. Others employ drugs, from medicines used to combat depression, convulsions and hyperactivity to more controversial concoctions like secretin, a hormone involved in digestion.

Supporters of these therapies often cite examples of autistic children who have seemingly stepped back from the mental brink and rejoined their families, friends and the external world.

"Very few people talk about a cure, but I've seen plenty of autistic kids treated who are now indistinguishable from normal kids," said Rimland of the Autism Research Institute and an advocate of vitamin therapy.

But others are less persuaded.

"If a parent tells me that they want to change their autistic child's diet, give them extra vitamins, and I don't see any specific medical harm, then who am I to tell them not to do that?" said Schreibman.

"But the only treatments empirically demonstrated to be effective for autism are based on behavior. They're not a cure, but nothing else has been documented to work, at least not scientifically."

Applied behavioral analysis (ABA) comes in many forms. No single method works for every autistic child. Some, like Nico, respond better than others.

"Nico is motivated by toys," said Schreibman. "A lot of autistic kids aren't. Toys don't interest them, and that makes connecting with them that much harder."

Connecting is a key to behavior training. While typical children absorb social lessons around them almost automatically, autistic children do not. A normal kindergartener, for example, might see his peers line up for class and conclude he's supposed to do so as well. An autistic child might not even notice there were other children nearby.

Behavior training is what it sounds like. Therapists use visual and verbal cues to teach autistic children what to do and how to behave in different, specific circumstances. Sometimes this is done with pictures, food, mimicry or simply repeating a behavior until the child catches on. The setting can be limited to a child and therapist or parent, or it can take place in a more communal setting, such as the Children's Toddler School, a preschool run by Children's Hospital that enrolls and mixes together autistic and developmentally normal children.

"Other children are often the best teachers," said Aubyn Stahmer, clinical research director at the school.

A future after all
When parents first arrive at UCSD's autism lab, they are asked to imagine where their autistic child will be in 20 years. Responses tend to be optimistic. "Most parents say college or married," said Schreibman.

But these expectations usually decline as parents become more realistic about what science and medicine can do. Schreibman offers optimism, but not false hope.

Yet that still represents a profound change from the past. A generation ago, there seemed no hope at all. Autism was a mysterious scourge, an unidentified robber of children's minds and personalities.

Last year, researchers at the National Institutes of Health reported that they had found elevated levels of certain brain proteins in newborns who later became autistic. The finding represents the real possibility that biological markers might exist that could eventually help doctors identify autism before symptoms become catastrophic.

"With early diagnosis, within the first few years of life, and effective treatment, the natural progression of autism is improvement," said UCLA's Freeman. "That's not a grim prognosis."

Rather, it's a start.

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