That was Ann Brendel’s reaction when Jack, her only child, was diagnosed with autism at the age of three.
The St. Louis mom likened the life-changing news to the old commercial in which a woman, after biting into a Peppermint Patty, suddenly appears on top of a snowy mountain amid fierce gusts of frozen wind. I felt like a cold wind was blowing me, trying to knock me off my chair,” said Brendel, 48, whose son is now 12. “And my very first reaction was, ‘If I can sit here and hang on for a couple minutes, and this doesn’t knock me to the floor, I can handle it.’”
Nine years later, she can proudly say that Jack has been accepted into the National Junior Honors Society and is an active Boy Scout. It hasn’t been easy though, she said. Autism changes the trajectory of the normal development of a child’s brain, resulting in learning, communication and social impairments, among other symptoms.
Over the past two decades, more and more parents have heard this diagnosis and learned to adapt to a new way of living and rearing a child. About one in every 110 U.S. children are diagnosed with autism spectrum disorder – a dramatic rise in the previously accepted rates of one in 150, according to a new study from Pediatrics, the journal of the American Academy of Pediatrics based in Elk Grove Village.
The alarming trend has the science community scrambling to determine whether these increasing rates reflect broader measures of diagnosis, improved detection methods and awareness of the disorder, an actual increase in incidence or some combination thereof.
To make matters worse, diagnosing autism is not a clear-cut process. In fact, Asperger’s syndrome, now considered a separate diagnosis of mild autism, will be considered part of the greater autism spectrum disorders under a pending proposal by the American Psychiatric Association.
People have mixed emotions about this potential change and its many implications. The merger may help with benefits and treatment, experts believe. But people with the disorder will have to adapt to a new definition of themselves – something that has never been quite clear in the first place.
“I really do feel like Asperger’s and autism are pretty much just two flavors of the same thing,” said Dave Beukers, a 22-year-old musician with Asperger’s syndrome. “But I also realized that a label’s just a label. A label doesn’t define who I am and what I’m capable of as a person.”
Families faced with the disorder are often confused, and many clinicians struggle to determine the right diagnosis and treatment for children exhibiting autism-like symptoms. In fact, nearly 40 percent of people diagnosed with autism spectrum disorder no longer have that diagnosis, according to the Pediatrics study. No conclusive data exists on the number of people with autism who are never diagnosed.
Margaret Martin, a 39-year-old Chicago mom with two children diagnosed with autism, recalled the first stages of realizing that something was wrong with her young son, who is now 12.
“At home, I had Noah, who really never was talking or anything. He was on target with all of his other milestones – walking, crawling, rolling, everything like that – but Noah never talked.
We had to go through a series of tests where they thought he was hard of hearing, they thought he was tongue-tied. Nobody really knew exactly what it was. He finally was diagnosed at age 2½ with autism.”
Classic autism – the most severe form of autism spectrum disorder – interferes with how the brain’s nerve cells communicate. Autism spectrum disorder involves a range of neural developmental problems that often manifest in trouble with communication, restrictive and repetitive behavior patterns and social impairment.
“He is kind of solitary at school,” Brendel said of Jack. “He is able to carry on a conversation with the other kids, but in the unstructured social settings, where they’re talking about gossip, he can’t keep up, Although I feel he has the desire to.”
Jane Rubinstein, a New York media representative, talked about the continuing challenges for her 23-year-old daughter, Rebecca Rubinstein, who has Asperger’s: “She still has a lot of issues. Her social skills are still extremely difficult. She doesn’t get sarcasm, she doesn’t get nuance, she interrupts.”
Asperger’s syndrome falls on the mildest end of autism spectrum disorder. Characteristic problems associated with this condition include an obsession with repetitive routines and problems with social interaction. According to Clara Lajonchere, vice president of clinical programs at Autism Speaks, people with Asperger's often struggle to grasp the subtleties of language such as tone, sarcasm and irony.
“They may not really understand the nuances of give and take in the course of general conversation and so there’s not much reciprocity in terms of conversation,” she said. People with Asperger’s syndrome occasionally exhibit extraordinary abilities in specific areas such as math and music.
“I definitely fall into the brilliant but lazy stereotype of Asperger’s, where I just can’t seem to get anything done because I keep getting distracted by other stupid things,” said Beukers, an aspiring musician and filmmaker in California.
“But in terms of clinical presentation, individuals with Asperger’s – they have good language skills, they just use language differently,” Lajonchere explained. “So their speech patterns may be unusual. Sometimes they sound robotic or too formal or too loud or high-pitched, and they can’t sense that.”
Although people with autism spectrum disorder share some of these underlying characteristics, the manifestation of the disorder takes a unique and unpredictable path in each person. Symptoms and degree of severity operate on a broad spectrum.
As with all mental health disorders, clinicians have attempted to characterize the disorder in the psychological bible, the Diagnostic Statistical Manual of Mental Disorders, or the DSM. Autism first appeared in the DSM in the mid-twentieth century; Asperger’s syndrome was introduced to its fourth and most recent edition in 1990 as a separate but closely related disorder.
“I think the two things that are really distinguishing factors would be the social issues - social communication, social interaction - and intellectual ability,” said Lajonchere.
For the fifth edition draft scheduled to take effect in May, 2013, the American Psychiatric Association has proposed a shift in defining Asperger’s under the greater umbrella of autism spectrum disorder. The suggested change would delete Asperger’s syndrome as a separate diagnosis. And for the first time ever, the American Psychiatric Association is allowing people to comment on the proposed draft changes until April 20, 2010 (see Related Links).
The DSM is the go-to manual for doctors, researchers, insurance companies, educators and policymakers for any mental health question, controversy or decision.
“As we are embarking on this kind of crusade for insurance reform and insurance reimbursement, it seems fairer to provide services to children with autism spectrum disorder without having to distinguish between categories that are not arbitrary,” Lajonchere said.
“But it really is a spectrum and a continuum,” she said. “And so the severity scores are going to map on to a continuum better than categorical classifications.”
Watch and listen to an audio slideshow with more thoughts on the topic (see Related Links).
Many people’s understanding of autism spectrum disorders stems from pop culture, including movies such as “Rain Man,” “I am Sam” and “Mozart and the Whale.” Most of these movies feature characters with high-functioning autism, which is typically representative of Asperger’s syndrome. Research and historians speculate that famous figures such as Albert Einstein, Thomas Edison, Vincent Van Gogh and Mozart may have had some form of autism.
Brendel’s first notion that Jack might have autism occurred while they were at McDonald’s. Jack was waving his finger in the air while eating, a common movement associated with autism.
“It kind of looked strange and when I saw that, I said, ‘That looks like autism,’ because I saw it on a television show called ‘St. Elsewhere,’ and the boy on the show with autism did that,” she said. “And that’s all I knew about autism, besides ‘Rain Man.’”
“I think with Asperger’s it’s definitely classified by social difficulties and all of that, as well as stereotypically the higher IQ,” said Rebecca Rubinstein, who is opposed to Asperger’s syndrome becoming a part of autism spectrum disorder.
“There are individuals with Asperger’s who are very proud of their Asperger’s diagnosis and very proud of who they are,” Lajonchere said. “And I don’t think it should take anything away from those individuals.”
While disparate opinions exist about the proposed definition change for autism spectrum disorder, the daily struggle is a common thread to all involved.
“But it is not easy, and we still struggle, and we will have new struggles coming up,” Brendel said.
“She’s a very lonely person,” Jane Rubinstein said of Rebecca. “And she’ll tell you she’s very lonely because she doesn’t have friends. She’s so close to normal, and she’s acutely aware of what she doesn’t have.”
“By this point, I still have little things here and there,” Beukers said. “But you know, I’ve caught up quite a bit. Most people wouldn’t guess that I’m Asperger’s or on the spectrum or anything at first glance, nobody could tell.”
“My husband and I have always been positive in trying to move forward – and not necessarily not look back – but try to just move forward and make everything as best as possible. Give them the quality of life that we can,” Martin said.
Despite their daily challenges, they maintain hope and are grateful for the families they have.
“Because I got through those first five minutes after talking to the neurologist, I’ve known ever since that we’ll make it through, and he will succeed,” Brendel said.