By Darcy Lewis
Photo courtesy of the Cure Autism Now Foundation
Tito Mukhopadhyaty is a 14-year-old boy from South India. Though severely autistic, Tito has learned to write fluently in English, giving scientists new insight into the autistic child's mind.
When it comes to autism, nothing is simple. This stunningly complicated developmental disorder continues to elude health professionals who have devoted careers to it. But as challenging as it is for researchers, it is even more difficult for children and families whose lives are irrevocably altered.
The first and most basic truth about autism is that there is very little consensus about anything in the autism community and this confusion becomes burdensome for families. Physicians, psychologists, researchers and parents disagree on such fundamentals as how common autism is, what causes it and how to treat it.
The one thing almost everyone does agree on is that autism has reached epidemic proportions. The National Institutes of Health (NIH) estimates new cases of autism have more than doubled in the past 15 years. A few experts theorize the increase can be explained partly by parents and doctors recognizing the symptoms much earlier. The truth is, no one knows why autism has increased at such an alarming rate. Scientists around the world are working to explain the increase in the hopes of reining in the autism explosion.
The Autism Society of America named April Autism Awareness Month, so we decided to take a look at some of the basics. There are also several autism conferences scheduled in the Chicago area this month. And on May 2-4, the California-based parents’ advocacy group Autism One is sponsoring its first national conference at Loyola University in Chicago. (See box for details.)
Here is a look at some basic questions and what a variety of experts and parents have to say. What is autism? Autism is not a mental illness. It is not caused by bad parenting or a child’s belligerence. Autism has not been connected with any psychological, social or racial factors, although boys are four times more likely than girls to be affected.
The NIH defines autism as a “complex, lifelong biological disorder of development that results in social interaction problems, communication difficulties and restrictive or repetitive interests and behaviors.”
Autism is a spectrum disorder, which means the type of symptoms and their severity varies from person to person. According to the Autism Society of America, many children with autism:
• show extreme resistance to change,
• act “deaf,” although their hearing is normal,
• make little or no eye contact,
• display an aloof manner,
• may not want to cuddle or be cuddled,
• have obsessive interests, including sustained odd play,
• spin objects compulsively,
• show over- or under-sensitivity to pain and other sensory experiences,
• and display “off-kilter” emotional responses compared to others.
But despite these challenges, autistic children are independent, resilient and often with great intelligence. Tito Mukhopadhyay, 14, a severely autistic boy from South India, can barely talk but writes perfect English prose and poetry.
“It’s the age-old message your mother taught you. Don’t judge a book by its cover. And she was right.
“Here’s this low-functioning autistic boy and he writes like a 30-year-old, Oxford-educated man,” says Jon Shestack, co-founder of the Cure Autism Now Foundation.
“It’s very rare that you find a person that acts like a low-functioning autistic person but can communicate about it,”Shestack says. “Tito is an amazing window into autism.”
What causes autism? No one knows exactly what causes autism and scientists are investigating many theories, but most are connected to genetics.
Dr. Marrea Winnega, a psychologist and director of the Developmental Disorders Clinic at the University of Chicago Children’s Hospital, says everyone now agrees autism is genetic. “The only exceptions are the people who believe autism is caused by vaccines, and even they accept the idea of genetic predisposition,” she says. “Researchers now are putting their energies into finding the exact genetic pathways.” Scientists have recently identified as many as 20 genes that may be involved in autism.
Brandy Krupa of Schaumburg, whose 7-year-old son, Tyler, is autistic, believes autism has multiple causes. “I can’t believe autism has only one cause because autistic children are all so different from each other,” she says. “It’s not like Down syndrome, where there are recognizable [physical] characteristics.”
Some researchers and many parents believe autism also is caused in part by environmental factors. “I believe most cases of autism are due to environmental insults that compromise the immune system,” says Edmund Arranga, founder of Autism One and parent of an 8-year-old autistic son.
Are vaccines at fault? In 1998, Dr. Andrew Wakefield published a small study of bowel disease in The Lancet, a British medical journal, that suggested a possible link between the measles/mumps/rubella (MMR) shot and autism. The authors relied on reports from the families of the 12 children involved—not a scientific survey—to associate the onset of autism with the MMR shot. Wakefield then made the claim—not shared by his co-investigators—that the MMR shot should be withdrawn and each shot given separately. Critics charge this would open the door for measles, a childhood killer, to regain a foothold.
Since then, a flurry of studies—both pro and con—has appeared. Wakefield also caused a stir by presenting unpublished data during testimony before Congress. The Lancet then editorialized, “Parents of [autistic] children have not been served well by [Wakefield’s] latest claims. A congressional hearing, like a press conference, is no place to make controversial scientific assessments.”
The scientific establishment remains convinced of the MMR’s safety. In 2000, the Centers for Disease Control and Prevention and the National Academy of Sciences conducted an exhaustive review but found no evidence the MMR causes autism. Later that year, the American Academy of Pediatrics convened its own panel, with similar results.
Dr. Robert Daum, head of infectious diseases at University of Chicago’s Children’s Hospital, says there is no biologically plausible way for the measles vaccine to cause autism only in the presence of the mumps and rubella vaccines. “Wakefield did not use a control group or follow the scientific method, so his results should be viewed with great caution,” he says. “Once he prematurely disclosed and published his data, the scientific community essentially had to prove a negative, which is very hard to do.”
But countless parents believe Wakefield’s claims, including Brandy Krupa. “Do I believe the MMR shot triggered Tyler’s autism? Yes, absolutely. Would I join a class-action lawsuit over it? No,” she says. “If I ever had another child, I would not skip the vaccinations altogether, but I would do the MMR at a slightly later age.”
How is it diagnosed? There is no laboratory test giving a straightforward diagnosis of autism, which is frustrating for parents. Even though autism is rooted in biology, doctors diagnose it through observation. Most practitioners start with a thorough medical history, physical examination and medical tests to rule out other conditions, then turn to the psychiatrists’ bible, the Diagnostic and Statistical Manual, 4th edition (DSM-IV). Winnega believes the manual provides a good framework. “For autism, we look at 12 characteristics and if a child displays at least six of those 12 characteristics, including at least two social deficiencies, he is diagnosed with autism,” she says.
Autism One’s Arranga intensely disagrees with this approach. “Tools like the DSM-IV are highly subjective, error-prone and confusing. It is reactive rather than proactive, which means the child loses precious time,” he says.
But for Tyler Krupa, the diagnostic process went as smoothly as could be expected. When he “lost” speech at the age of 13 months, his mother sought help from her pediatrician immediately. “Because he had just seen Tyler talk at his 1-year visit, he agreed something was very wrong, and he also respected that we knew our son best,” says Krupa.
By 15 months, Tyler was receiving therapy from his school district under the state’s Zero to Three program. “They didn’t want to kick me in the stomach right away, so they never used the term autism until he was about 17 months old,” Krupa says. “Even though our diagnosis was relatively quick, it was a horrible rollercoaster ride.”
Is there a cure? This is perhaps the most heated controversy, with most of the medical establishment reluctantly saying no, and many angry parents refusing to accept anything less than a cure.
Dr. Michael Chez is a pediatric neurologist in Lake Bluff who specializes in autism. “I know I can give my patients and their families a better life than when they first come to me,” he says. “But I also know I can’t cure them.”
Arranga vehemently protests this outlook: “Autism can be cured,” he says. “It is a disease, not a disorder that can only be managed. Diseases can be fought and cured.”
Shestack agrees. He says that there are currently 300 scientists researching autism and a cure is on the way.
But not every parent feels this way. Krupa says she is not looking for a cure, even though her first-grader now speaks at a toddler’s level after years of intensive therapy. “My son is who he is,” she says. “If there were a cure, I’d have to rename him, because he wouldn’t be Tyler anymore.”
What is the treatment? For the most part, medical doctors treat the symptoms of autism using only medications that large-scale scientific testing has shown to be safe and effective. They usually do not use or recommend untested treatments.
Desperate parents often place more weight on anecdotal evidence from other parents than their physician’s recommendations. Arranga believes this is an appropriate response: “The medical establishment has mostly turned a blind eye to effective treatments, calling them unsupported or experimental despite the fact that tens of thousands have benefited.”
Parents and physicians can work together. “I’m frustrated that desperation leads autism treatment today,” says Chez. “If a parent tells me about an alternative therapy that works for their child, I tell them stick with it.”
One example is the wheat-free and dairy-free diet, which was developed as a response to the gastrointestinal difficulties of many autistic children. Though the diet is controversial in some medical circles, legions of parents swear by it.
Autistic children typically receive huge doses of occupational therapy, speech therapy and physical therapy. Two of the best-regarded regimens are applied behavioral analysis and floor time. But both programs require a child be in therapy up to 40 hours a week, which becomes physically and financially draining.
Is my child autistic? Brandy Krupa often counsels parents who worry their child might have autism. Here is her favorite question to ask concerned parents: “If grandma walked in with a huge present, would your child bring it to you to show you how wonderful the gift is, or would he not involve you, because his world consists of just him and the gift?” If it’s the latter, Winnega suggests calling your pediatrician right away.
Here’s the bottom line, says Winnega: “If your child is social and talking and imitating, all without help from anyone else by age 3, he is probably not autistic. If he is not drawing you into his world, you should take action long before then.
“It’s true that many children, especially boys, talk later than others, but pediatricians must look at nonverbal and social behavior, too,” says Winnega.
Winnega suggests calling the Autism Society of Illinois for a referral. “You definitely want someone who is experienced in autism diagnosis,” she says.
Arranga believes the first stop for worried parents should be the Internet. “Yahoo alone has more than 700 groups devoted to autism,” he says. “Parents are the only expert when it comes to autism.”
You may not feel like an expert, particularly if you’re worried your child might have autism, but as a parent, you are the ultimate authority on your own child. If you believe your child needs help, don’t stop until you’re satisfied that he’s gotten it. At the same time, be realistic. “Probably all children under 3 have days where, taken in snapshot, they might appear to be autistic,” says Winnega. “But if your child’s odd behaviors come and go, he doesn’t have autism.”
Darcy Lewis is a freelance writer who lives in Riverside with her husband and two boys, ages 3 and 8.