May 19, 2008 — -- On the front lines of autism treatment, things can get emotional, controversial and -- sometimes -- hopeful.
One doctor in California is arguing that trying to diagnose autism without looking at the brain is like trying to diagnose a heart condition without looking at the heart, though the established autism community isn't so sure.
But for parents like Sarah Kavanagh, Dr. Fernando Miranda has changed their lives.
To be sure, Kavanagh would have had her hands full anyway. For the single mother of twin 6-year-old boys, Beckett and Webb, the days start early.
"Come on guys, let's have some breakfast," she shouts.
Beckett and his brother, Webb, come bounding out of bed smiling. It takes quite a while to get these two youngsters to arise from their slumber. But once they are up, the twins are ready for the day.
Beckett immediately runs to his dog, Wilson, an old English sheep dog, while mom prepares their morning meal.
"Breakfast," yells Beckett, loud and clear.
For the last five years, Kavanagh has been struggling to get him to this point and it's still hard for her to think back on the heartbreaking diagnosis she got when Beckett was 18 months old.
"They just watched him play in a room with a little kitchenette set and some stuffed animals and from that they deemed that he would be autistic," she said, shaking her head. "I was shocked, devastated."
Beckett always struggled with his speech, unlike his twin brother, Webb. More and more specialists gave her grim news about his condition.
"I heard everything from a resident telling me he would never advance beyond the intellect of an 18-month-old to the school district telling me he'd have to have a companion for the rest of his life," Kavanagh said.
But there was something -- his eye contact, his eagerness to relate or maybe it was just a mother's instinct -- that told her otherwise.
And her lawyer's instinct. Kavanagh's legally trained mind allowed her to think outside the box.
The lawyer's thorough searching led her to a doctor who was taking parents' demands for answers to a new frontier.
Miranda, who runs the Bright Minds Institute in San Francisco, insists that you have to look inside the brain to determine what's wrong.
"You have a child that comes to me and mom says, 'Why is my child not talking?'" he said. "We know that speech is in the brain. What's going on in his brain? I think we should answer that and I think we should answer that as objectively as possible."
But that is not the typical method of diagnosing autism. Behavioral tests are the standard. Indeed, neurologists are often only brought in when cases seem unusual. Even then, high-powered MRIs and cutting-edge EEGs are only used selectively.
Miranda said that's because neurologists have not been as fully involved in the field of autism as they should have been. He thinks that should change.
After looking at Beckett's MRI, Miranda explained that the corpus callosum, the brain freeway that connects the two hemispheres, was a bit thin. That is crucial in any sort of diagnosis because it can affect language.
But this is the critical point: knowing that now will direct the sort of therapy Miranda suggests for Beckett.
Miranda said that in a few years if another MRI is done, it should show a difference in his brain.
But even more important, Miranda found something amiss on his EEG, which he said is an indication Beckett could be having seizures that are impossible to see physically.
After more tests were done, including a sleep EEG, it was determined that Beckett almost certainly isn't autistic, Miranda said. He has a version of Landau Kleffner syndrome, a rare brain seizure disorder that can masquerade as autism.
Miranda put Beckett on anti-seizure medicine and the results have been astounding.
"Within a period of 60 days his vocabulary went from maybe two or three words to about 300 words," Miranda said.
To watch Beckett today, you might think he has a bit of trouble speaking, but it's minor. You'd never think he was autistic. He's being mainstreamed in kindergarten, in a school that he attends with his brother.
But that is yet another thing Kavanagh has had to fight for, because the autism label stuck for so long it was hard to remove.
She's also had to battle conventional wisdom in the medical community. Despite the EEG results, other doctors she'd seen in the past told her Beckett's seizures didn't meet the standard criteria for treatment. He wasn't having enough seizures, in other words.
Typically with anti-seizure medicine, the course of treatment is no more than four years. In that amount of time, the seizures usually clear up as the brain is literally retrained to stop seizing.
Many types of anti-seizure medicine are in use for other symptoms, such as bipolar disorder. But there is great debate within the autism medical community about when anti-seizure drugs should be used and about how severe the seizures have to be before they are treated.
Further complicating things, these seizures can often be completely invisible to the naked eye, or mistaken for staring or daydreaming -- symptoms typical of autism.
That was the problem for 8-year-old Justin Senigar. When he was 18 months old, his parents, concerned about his lack of speech, took him to a doctor. They were told he was on the "spectrum" and to focus on speech therapy.
The Senigars never quite believed it. His eyes told them something else. He would close his eyelids for moments at a time. It looked almost as if he was dreaming.
They searched for answers year after year, even taking him to a revered neurologist when he was 4 years old.
"They didn't run tests, they didn't do anything," Justin's mother, Paula Senigar, said.
Until the Senigars found Miranda when Justin was 7, all the response they could get from him was one-word answers or just nods or shakes of his head.
After running tests on Justin and finding from his EEG that there seemed to be fairly significant seizure activity, Miranda prescribed anti-seizure medicine, which made a difference for him immediately.
"Within the first couple of weeks," Todd Senigar said. "We started to see that he was able to maintain focus on … schoolwork.
"We noticed that his language was developing and he was able to be more expressive. And it was exciting for us," Paula added.
The Senigars will never be able to get back the years before Justin was diagnosed. They watch old home videos, remember specific instances when Justin seemed a little off and wish they could have found out something sooner.
They recall instances when Justin didn't seem in the moment, when they thought perhaps he may have just "spaced out" at the time. But those moments were not just their child zoning out. They were seizures.
Some research shows that children with autism are prone to seizures and that 50 percent of children diagnosed as autistic would have abnormal EEGs if tested.
But again, there is great debate over whether and when to treat. And the problem is compounded by the fact that the seizures might go unrecognized by the untrained eye. Without the tests, even significant seizures can be missed.
Many top neurologists caution that these tests would by no means make sense for every child with autistic symptoms.
Many experts say there may not be the equipment or expertise to do it. And top neurologists say there is no clear research on how many children this would really help.
"Doing an EEG and MRI in every child with autism is absolutely not recommended," said Dr. Robert Tuchman, director of the Autism Program at Miami Children's Hospital.
Tuchman and others said there would have to be a sign of something else, maybe the staring or some other symptom that might lead a doctor to believe there is more going on. And it is possible that specialists have more experience in judging who might be best helped by these tests that "look at the brain."
But, what about the other kids? Wouldn't they be helped by a more scientific way to look for abnormal brain activity? Most experts said it was not practical. There are not enough facilities and doctors who can perform these specialized tests to handle the volume.
Further, it's not clear how many children would be helped. Again, there is debate about whether a small amount of "abnormal brain activity," or spikes or an EEG, should mean treatment with anti-seizure drugs. The Kennedy Kreiger Institute in Baltimore, on the front lines of autism treatment and research, says it worries that EEGS for everyone would yield too many "abnormal" EEGs and that too many kids would wind up on anti-seizure medication for no reason.
At the heart of the matter: There is simply no research yet to show exactly which kids with seizurelike activity might really be helped. What the level of this seizurelike activity needs to be for drugs to make a difference, nobody knows.
The question is literally being studied now, in the field. Miranda believes that there is no harm in trying patients out on the drugs to find out, in a very controlled fashion. Many people, he says, do not benefit. But he does not view the drugs as harmful. Other doctors clearly disagree.
One top researcher working on this subject, who admitted it's fairly controversial, says the established medical community always has a hard time with change. He predicts that this method of diagnosis will eventually have to become standard.
And many neurologists have said that there are a number of reasons a parent might want to have an MRI or EEG:
Miranda's Web site has more specific information on what to look for and treatment options.
Miranda was asked about the fact that so many doctors might say, "Yes, this technology is great, but we don't know enough about what we're seeing to recommend that this be the norm."
Miranda said it's time that more neurologists learn to look for problems in kids' brains.
"We neurologists are experts in the brain," he replied. "The brain is the integral part of our body for behavior. So we need to look at that in detail in our children. If not, we're not doing anyone a favor."
In the end, parental instinct is key. Paula and Todd Senigar are thankful they never gave up their search, but are plagued by video they have of Justin at age 2. What they thought was daydreaming was almost certainly seizures. And they are angry and confused that the top neurologist Justin saw when he was 4 never did any tests. These physicians never even suggested to them that this could be in fact, seizures.
"I feel like we lost out on a lot of time and development for him," Todd said.
"That's the one thing we can't get back no matter what," Paula said. " We can't get those years back to try to."
At that point Paula started crying, and asked to take a break.
But half an hour later, as Justin prepared for his karate class, his favorite activity, she brightened.
Later, watching him in the studio with Todd, they realized that moments like these, with Justin calmly doing his moves and talking to the class, would have been unthinkable just a few years ago. Justin now participates in the same afterschool activity as his older sister, Jordan.
In fact, he was even called on to recite the school creed.
"Amongst my brothers and sisters," he started, "I profess to live my life in a positive manner, to respect my self." He got through every word like that of any 8-year-old.
Paula is convinced that Justin will grow up to be an artist -- a talented one at that. He enjoys drawing his favorite pizza restaurant. And most importantly, he paints a portrait of his family -- one that has gone through so much, but sees a brighter and more colorful picture for the future.