Monday, January 28, 2008

Autism Changes Everything

My grandson Christian and I used to sit by the side of the road together and talk about the different vehicles as they passed. He loved to name them all—mail truck, delivery truck, garbage truck. Our home videos, now too painful to watch, show a happy little boy reveling in the new role of big brother.

A few months later, this bright, beautiful child was somehow slipping away from us. His words left him, and his playful personality gave way to frequent and intense tantrums. His potty training disappeared. He began to suffer from gastrointestinal problems and recurring infections. The sensation of sand under his feet now made a walk on the beach feel like torture. Autism had its grip on Christian, and it was taking hold of our entire family in the process.

For a while, we mourned the loss of the little boy we knew and all we hoped he would become someday. And then we got back to loving and celebrating the wonderful child he is and how much he has to offer.

My husband Bob [vice chairman of General Electric] and I simply could not fathom why so little was known about a disorder that was devastating thousands of families like ours. Where were the impassioned speeches on the floors of Congress? Why hadn’t anyone told us this could happen to our grandchild—to anyone’s child?

Some may view autism as the disease du jour, the cause of the moment. That trivializes what many are enduring. Families are literally going broke trying to provide their children with the services they deserve. Adults with autism are failing to meet their potential.

Our grief evolved into feelings of anger and, eventually, determination. We started a foundation called Autism Speaks and, working with thousands of remarkable parents, have brought this issue front and center. With the help of the United Nations, we are taking this effort global. This year, April 2 will be World Autism Awareness Day.

We’re now playing catch-up as we try to stem the tide and ultimately eradicate autism for the sake of future generations. If we continue our current trajectory, we’ll get there in my lifetime.

What Do We Know About Autism?

As a child, I learned how autism turns a world upside down. In our house, it was my little brother who was diagnosed at 3. In the search for a treatment, parents will go to any lengths. I saw that with my parents, and I see it now as a practicing physician. Much has changed in the field of autism, but the need for parents to make decisions in a bewildering terrain has hardly changed at all.

A diagnosis of autism usually rests on three distinctive symptoms: difficulty with social interaction, problems with verbal and nonverbal communication, and repetitive actions or obsessive interests. These behaviors can range from mild to disabling.

Parents may first notice that something is wrong when their child fails to babble or point by age 1 or to speak by 16 months. Some autistic children don’t smile or make eye contact. Others seem to be hearing impaired or do not know how to play with toys. There also are cases in which a child who appears to be making normal developmental progress abruptly loses language or social skills.

Is Autism an Epidemic?

Until the 1940s, there was no autism—in the sense that it was an unrecognized condition. In 1988, when Dustin Hoffman’s Rain Man brought a version of autism to life on film, many of us first heard about it—as an odd, almost-fascinating disorder which was also, apparently, rare.

Fast-forward to today. Autism is front-page news. Celebrities talk about it, Congress ponies up millions for research, and the numbers are startling: One in every 150 American kids has some form of autism, says the Centers for Disease Control. The last 15 years in particular have seen diagnoses rates soar. “It is the fastest-growing developmental disability in the U.S.,” says Dr. Andrew Zimmerman, director of medical research at the Kennedy Krieger Institute Center for Autism and Related Disorders in Baltimore.

No one really knows why the numbers are so high. But there are many theories. The most commonly accepted one centers on how we define and recognize autism. “There has been an expansion in the criteria,” explains Dr. Cecelia McCarton, the director of a school for autistic children in New York City, echoing the majority of mainstream experts.

A broader definition means that there are simply more ways to be considered autistic than in the past. At the same time, parents, teachers and doctors are paying more attention to the symptoms—which tends to lead to higher numbers of diagnoses.

But changes in how children are labeled and diagnosed alone “cannot explain the rise,” says Dr. Zimmerman. Other theories rest on maternal, obstetric or environmental factors that perhaps trigger an innate tendency. “Anything from autoimmune disorders to chemicals in the environment may be involved,” adds Zimmerman. He notes that researchers have been pursuing all of these theories to varying degrees, “but science has not yet pointed us to any concrete answers.” An important study released this month suggests that a genetic flaw that occurs around conception may sharply increase the risk that a child will develop autism.

More than perhaps any brain disorder in history, autism has ignited heated arguments among parents and professionals.

What Is the Best Treatment?

There currently is no single definitive treatment for autism. “One size fits all” does not work. But starting early does. These days, children as young as 1 are being evaluated and treated. “The sooner you start, the better off you are,” says Dr. Mc-Carton. Early intervention works, she explains, because of the malleability of the brain in very young children—that is, its ability to grow and develop when stimulated.

Today, most school-based programs rely on behavioral therapy to stimulate development. The treatment aims to reinforce appropriate behaviors while discouraging the inappropriate. Typically, a child is required to perform over and over a task that autism makes difficult—say, buttoning a shirt—with rewards such as stickers or candy for performing the task correctly. This approach, practiced in different variations and sometimes customized to the individual child, helps some autistic children make eye contact, increase spoken vocabulary and master basic life skills.

Lisa Goring of Manhasset, N.Y., got her son Andrew early-intervention services at age 2. “When we started, Andrew threw tantrums that made it impossible for us as a family to go anywhere,” recalls Goring. “At first we felt lost. But after we found a program, he learned how to speak. Once he was able to communicate, his world opened up.” Andrew made such good progress that he was able to enter mainstream kindergarten. He’s now in sixth grade. Though not at the level of his peers, Andrew functions well with one-on-one support provided by his school district.

While behavioral programs claim a scientific basis, the reality is that it is difficult to test their effectiveness or even to compare one type of behavioral treatment with another. Still, these therapies win general endorsement by most professionals and many public school districts (though insurance companies generally refuse to pay for them).

Do Vaccines Cause Autism?

Most doctors and researchers answer a clear “no” to this question. But the controversy remains alive in the media and among parent-advocacy groups.

Parents in these groups have reported a sudden and dramatic social disconnect—including loss of language—in children who previously seemed to be developing normally. The change occurred soon after the children were given the first dose of the MMR vaccine (to prevent against measles, mumps and rubella), typically at around 12-15 months. These parents adamantly believe that their children’s autism was caused by something in the MMR vaccine or in combination with other vaccines containing the mercury-based preservative thimerosal. They insist that the timing of the onset of autistic symptoms is not a coincidence.

While some physicians and scientists support the vaccine-autism link, the overwhelming majority of medical professionals and mainstream medical organizations maintain that vaccines do not cause autism. This is the position of the Institute of Medicine (IOM), National Academy of Sciences, CDC, American Academy of Pediatrics and NIH. After reviewing the research, the IOM concluded that the evidence “did not support an association between autism and the MMR vaccine.”

In fact, even autistic children who never received the MMR vaccine first show symptoms at around the same age as those who are vaccinated.

Is There Hope?

Parents of autistic children should not despair. “Many kids do very well and adapt to their situation,” says Dr. Lee Marcus, clinical director of the pioneering TEACCH program in Chapel Hill, N.C. Since the 1960s, the program—now mandated in North Carolina—has been combining behavioral and developmental therapies, with parents as co-therapists. “There can be progress and optimism about the future. Society is more accepting. Many people do a good job teaching kids with autism.”

Indeed, the road ahead for people with autism depends on the attitudes of the rest of us and our willingness to create opportunities for jobs, for education and for inclusion. “We know our son will always have challenges,” says Lisa Goring, “but we feel very fortunate that we found people who understood how to teach him. He’s different, but his friends absolutely accept him. He has a community.”

Does It Work?

Experts say that nearly 80% of autistic children are given complementary treatments, including special diets and nutritional supplements. “I know of more than 300 treatments being used by families,” says Dr. Paul Law, a pediatrician and father of an autistic child, who created the first national online database on autism. But experts caution that there is little solid scientific evidence for most treatments. Among the most popular:

Elimination diets. These generally allow no casein (found in virtually all dairy products) or gluten (found in most grain-based foods). Many parents report improvements in their children’s functioning. But some professionals say the diets will only work for children who are truly allergic. One warning: Children on restricted diets could end up with nutritional deficiencies. Always talk with your child’s doctor before starting a new regimen.

Secretin. This naturally occurring hormone controls digestion and has been prescribed for gastrointestinal conditions. In 1998, some researchers suggested that a secretin deficiency could cause autism. Hoping for a cure, some parents gave IV infusions of the hormone to their children. But after a series of trials, NIH researchers concluded that there was no evidence that secretin was effective as a treatment for autism.

Chelation therapy. This is an accepted treatment for the removal of toxic levels of lead. Some have argued that autism is caused by a buildup of heavy metals (such as mercury) in the body. No rigorous scientific studies have shown any benefit to chelation therapy. Moreover, it has been associated with serious side effects.

Thursday, January 10, 2008

Genetic mutations boost autism risk, study says

From USA Today -

Scientists have discovered a pair of genetic mutations that markedly boost a child's risk of autism, researchers report Thursday.

The mutations — missing or duplicated snippets of DNA on chromosome 16 — may raise a child's risk of autism 100-fold, the study says. Although the genetic errors occur in just 1% of autism cases, that amounts to a lot of children.

"There are probably a million kids in this country with autism. About 10,000 of them have this mutation," says David Miller of Children's Hospital Boston, where a diagnostic test was developed and is available.

The research marks a major turning point. Scientists no longer are simply describing the many facets of autism but are probing its biological roots.

Previous studies show 90% of cases result from genetic abnormalities, but those found so far explain autism-related disorders in only 10% of patients.

The newly discovered genetic errors occur before fertilization, Miller says, a finding that bolsters the belief that autism-related disorders are genetic or developmental, not caused later in life by childhood vaccinations.

Researchers at the California Department of Public Health on Monday further weakened the vaccine-autism connection. They reported that autism rates in California have continued to climb, from three per 1,000 in 2003 to four per 1,000 in 2007, even though the preservative thimerosal, which has been widely blamed for autism, was banished from almost all vaccines by 2001.

In the new study, researchers for the first time scanned the entire genetic code of 1,441 children with autism or a related disorder and a similar number of parents whose DNA is stored at the Autism Genetic Resource Exchange. They also scanned the DNA of almost 1,000 patients from Children's Hospital Boston and another 18,000 control subjects from Iceland whose DNA was analyzed by the firm DeCode.

Researchers found 13 children who were missing snippets of DNA and 11 who had duplications. In all the cases, the children had autism or related problems, the researchers report in today's New England Journal of Medicine.

"This might be the tip of the iceberg" of dozens of genetic errors, says Andrew Zimmerman of the Kennedy Krieger Institute Center for Autism in Baltimore. Finding more, he says, would enable researchers to create genetic arrays, much like computer chips, that could be used as a one-shot test for many forms of autism.

"If we can identify children at risk for autism very early, we have the chance to intervene early while the brain is still developing," says Annette Estes of the University of Washington's Autism Center Research Program.

Jean Yates of Pound Ridge, N.Y., the mother of two boys with autism, 13 and 17, was elated to hear her family's involvement in the exchange consortium may have made a difference to other families grappling with autism. "I wanted very badly to help," she says. "We gave so much of our blood."



No single behavior is enough to diagnose autism, researchers say, but here are some signs to watch for at age 14 months:

• Lack of gesturing, vocalizing and eye contact to initiate communication.

• An inability to pick up cues from watching facial expressions. If a parent is looking at a stuffed toy, a typical child will follow the parent's gaze to the toy. A child with autism often doesn't do that.

• Unusual play patterns. A typical child given a toy fork will pretend to eat with it. A child with autism may repeatedly tap it on the table or pick it up and drop it.

• Fewer words, gestures and sounds than typically developing children.

Source: Kennedy Krieger Institute


Autism is an umbrella name for a family of disorders that begin in childhood, last a lifetime and disrupt a person's social and communication skills. Here are facts about autism from the advocacy group Autism Speaks:

• 1 in 150 children is diagnosed with autism. Boys are four times more likely than girls to have autism.

• Less than a decade ago, the disease was diagnosed at age 3 or 4. Now it is routinely diagnosed at 2.

• Symptoms range from mild to severe. Many people with autism display rigid routines and repetitive behaviors.

• There is no single treatment for children with autism. Most respond best to structured behavioral programs.