A World Apart
A young child's language abilities regress. Eye contact ceases. Interests become obsessions. This is what autism often is like-a disorder that confounds parents and baffles researchers, even as diagnoses are increasing
In hindsight, Sebastian Velez’s parents say, there were clues early on.
“I noticed he never looked at me when I was nursing,” says 34-year-old Maria Mejia, Sebastian’s mother, who lives with her husband and two sons in a spacious Rockville town house off Falls Road. At the time, she didn’t think much of it. “He was our first, so I couldn’t compare him with anyone else.”
When Sebastian was a little older, he wanted to look at books by himself instead of having one of his parents read to him. “We thought he was independent,” says his father, 38-year-old Daniel Velez. “You don’t know what you don’t know.”
By age 2, though, “he was getting more and more into himself,” Mejia says. “At some point he just stopped looking at the camera.” He didn’t play with other kids on the playground. His teacher at day care said he never looked her in the eye. He couldn’t string words together into a sentence.
Call it parental intuition: Mejia and Velez asked their pediatrician if Sebastian might be autistic. The doctor said the boy seemed too affectionate to have the disorder, but suggested taking him to a psychologist to assuage their concerns.
That’s how Sebastian became, at age 2½, one of a growing number of children in the United States diagnosed with autism—a spectrum of chronic developmental disorders marked by impaired social interaction and communication, as well as unusual behaviors. Autism is usually diagnosed before age 3 and lasts throughout an individual’s life. It’s more than four times as common in boys as in girls.
According to the Centers for Disease Control and Prevention (CDC) in Atlanta, an estimated one in 88 U.S. 8-year-olds (one in 54 boys; one in 252 girls) had autism in 2008, up from one in 150 in 2002. Locally, the number of public school students diagnosed with autism has risen from more than 400 in 2001-02 to more than 1,900 in 2012, according to a Montgomery County Public Schools spokesperson.
The question is: Why? Has heightened awareness of the disorder spurred more parents and pediatricians to consider autism in children who exhibit symptoms such as delayed language development? Or has there actually been an increase in the number of children with autism symptoms?
Last year, the CDC co-sponsored a workshop on the topic with New York City-based Autism Speaks, which describes itself as the nation’s largest autism science and advocacy organization. The workshop’s conclusion: “Although a true increase in ASD [autism spectrum disorders] cannot be ruled out, such an increase has been difficult to prove.” Some workshop participants expressed hope that learning why autism has become more common could uncover modifiable risk factors.
“The saddest thing about autism is there are so many unanswered questions,” says Ayda Sanver, a Potomac resident whose only child and only sibling have autism. “Despite all the research, we’re not a heckuva lot further.”
One theory that refuses to die, despite having been disproved repeatedly, is that childhood vaccines cause autism. The best-known proponent of that notion is actress Jenny McCarthy, whose son was diagnosed with the disorder. She’s president of Generation Rescue, an organization founded by a couple who attributed their son’s autism to the antibiotics and vaccines he received during his first 18 months of life. “I know children regress after vaccination because it happened to my own son,” McCarthy wrote last year in a Huffington Post blog.
That parents make this connection isn’t surprising: Autism usually is first identified in toddlers 18 months to 30 months of age, not long after they typically get a number of immunizations.
Probably the most widely touted explanation for childhood vaccines as a possible cause of autism stems from a 1998 report published in the respected British medical journal The Lancet. Dr. Andrew Wakefield described eight children whose first autism symptoms appeared within a month after receiving the measles, mumps and rubella—or MMR—vaccine. The children had been referred to his clinic because of diarrhea or abdominal pain, leading Wakefield to suggest that the vaccine causes bowel dysfunction, which in turn, he said, could cause autism. The Lancet retracted Wakefield’s paper in 2010, saying several elements were incorrect. A year later, the journal ran a series of articles showing Wakefield’s data to be bogus.
In a report released in August 2011, the Institute of Medicine concluded that vaccines are generally safe. “Vaccines are not free from side effects…but most are very rare or very mild,” according to the report from the institute, which is part of the National Academy of Sciences. “Importantly, some adverse health problems following a vaccine may be due to coincidence and are not caused by the vaccine.”
Lisa Gilotty, chief of the Research Program on Autism Spectrum Disorders at the National Institute of Mental Health in Bethesda, understands, however, why parents might blame immunizations for their child’s autism. Parents of autistic children often say their kids were developing normally, possibly even speaking full sentences or numerous words, before they got their shots, and then their language skills faded away.
“What can happen in autism early on is something’s disrupted in terms of language development,” Gilotty explains. Toddlers with autism might seem chatty, but they could simply be repeating words that have no meaning to them. “At a certain point, that nonfunctional use of language falls away, and then the regular process of language begins,” she says.
Scientists refer to an association like the one between childhood vaccines and autism as a “correlation.”
“There have been quite a few correlational studies on other environmental factors—living near freeways, TV watching,” Gilotty says. “Correlation doesn’t prove causality, but correlation is an important part of science. Potentially it’s a clue.” If two things appear to be linked, she says, then maybe scientists should investigate whether it’s a coincidence or not.
When Gilotty talks about the environment, she doesn’t mean just the air or water. “What scientists call the environment is anything that’s not genetic,” she says. “The environment is a vast universe of possibilities. And I think it hasn’t nearly been explored enough yet.”
Autism probably results from the interplay of environmental factors and genetics, Gilotty says.
Dr. Chuck Conlon, a developmental pediatrician in Bethesda, notes that if one identical twin has autism, there’s a 60 percent to 90 percent chance that the other does, too. Of course, that means 10 percent to 40 percent of individuals with an autistic identical twin won’t have the disorder.
“Genes aren’t by themselves enough of the story,” Gilotty says. “Genes don’t cause diseases or disorders. Genes confer risk. That’s all they do.” In autism, Gilotty says, “the genetics findings are telling us where to look and when to look, and that gives us a clue to which environmental factors could be the most salient.”
For example, some of the key genes implicated in autism regulate brain development early in life, from before birth to shortly after. During that period, “there’s this process of creation of new cells and pruning back cells,” Gilotty says. “It’s a natural process of brain development.” In autism, though, that pruning doesn’t happen the way it’s supposed to, resulting in an overabundance of cells in certain regions of the brain. You might think the more brain cells the better, but “if you get too many brain cells, the communication between them is affected,” Gilotty says. “It can also impede the long-range communication between brain regions.”
Other research indicates that tiny, spontaneous genetic mutations in a parent’s egg or sperm or in a fertilized egg itself could cause autism. Depending on where the mutations are located, they can disrupt brain development and might increase the risk for autism. Gilotty likens the discovery of these “point mutations” to finding a specific grain of sand on the beach.
Still, many questions remain.
“We know that early intervention can be beneficial, but it’s impossible at this point to predict how much intervention, exactly when to start, exactly how intensive for any individual child,” Gilotty says. “It’s maybe better to have more [intervention] than less. …Children can make great, great strides.”
According to the American Academy of Pediatrics, children with autism should get 25 hours of services a week, says Conlon, who’s now in private practice but previously served as chief of the division of neurodevelopmental pediatrics at Children’s National Medical Center in Washington, D.C. “I have parents coming in wanting a diagnosis because they know they’ll be able to get more services for their child,” Conlon says. They want to know what they can do to reroute their child’s brain and improve how he or she communicates and interacts with others.
The stated mission of Generation Rescue, Jenny McCarthy’s organization, is the “recovery” of children from autism spectrum disorders. When McCarthy talks about her son, she says he had autism. But even her group’s website avoids the word “cure.”
“We don’t think about autism being cured,” Conlon says. Yet, “all of us continue to see children who sort of move off the spectrum.”
Perhaps those children never really had autism, he says, but “we’d like to believe the interventions clearly are helping.”
When Ayda Sanver’s younger brother, Omer, was 5, doctors told their worried parents that “we don’t quite have a name for this. He will be lifelong disabled.”
His parents asked whether their son could go to school.
“To learn what?” the doctor said. “To tie his shoes?”
But Omer’s parents did send him to a special education school in Montgomery County, where, his sister says, “he did pretty well.”
“The word ‘autism’ didn’t come up until he was in his teens,” Sanver says.
That would have been in the 1980s, when Conlon was training for a career in developmental pediatrics. “When I first started, people were calling it ‘childhood schizophrenia,’ ” he says. Although Johns Hopkins psychiatrist Leo Kanner first described autism in 1943, “autism wasn’t really even on the map” back in the early to mid-1980s, Conlon says.
Nearly 20 years after a doctor finally confirmed that her brother had autism, Sanver wondered if her toddler might, too. Sanver and her husband, who have since divorced, noticed that their daughter, Julide, seemed to lag behind children her age, especially in language. “It got to the point where we couldn’t ignore it,” Sanver says.
Her pediatrician told her, “You’re just imagining things because you have a brother with autism.” But Sanver says a developmental pediatrician affirmed her hunch within five minutes of meeting Julide.
Today, Omer, 42, and Julide, 19, both live in group homes run by Community Services for Autistic Adults and Children (CSAAC), a private, nonprofit agency funded by the state, Montgomery and adjacent counties and private donations. Both also work part time in jobs arranged by CSAAC—“my brother is great at envelope stuffing,” Sanver says—and Julide also attends one of the agency’s schools.
Executive Director Ian Paregol says CSAAC serves about 300 families, making it the largest agency in the country to provide services from early childhood through retirement for people with autism. Some CSAAC families have two or three children on the autism spectrum, he says.
When CSAAC was founded by four Montgomery County families in 1979, people with autism tended to be institutionalized, Paregol says. “The founding concept for CSAAC was [that] individuals with autism can be part of the community.”
CSAAC operates 52 homes in Montgomery County, plus two schools—in Brookeville and inside Northwood High School in Silver Spring—that serve children, teens and young adults through age 21. (Private schools such as The Ivymount School in Rockville and The Auburn School in Silver Spring also have programs for children, teens and young adults with autism.)
The agency offers in-home therapy to about 40 children—more than the enrollment of its two schools combined. At its sprawling headquarters in Montgomery Village, CSAAC also offers vocational training for adults and a preschool for six children.
“These are little ones who can’t even wave hello or goodbye,” says Sanver, who serves as executive director of the CSAAC Foundation, charged with raising funds and awareness.
Sanver sees her brother a few times a week at the CSAAC complex when he returns from work. He is a husky, balding man who shares his sister’s brown eyes and hair. As she talks to him about what he had for lunch, he pats her upturned hands.
“You look happy,” Sanver tells her brother.
“Hap-py, hap-py,” he responds.
The oldest resident of a CSAAC home is 70, nearly three decades older than Omer Sanver, Paregol says. In the time before CSAAC’s founding, when parents were advised to institutionalize autistic children, meeting the needs of autistic adults was pretty much a nonissue because they were isolated from society and less likely to live to old age, Paregol says. “We kind of feel like we’re leading the conversation about the aging of people with autism.”
Sanver worries about how society is going to deal with the burgeoning population of children with autism as they—and their families—grow older. “Where are all these kids going to live when their parents are gone?” she wonders.