Researchers at the University of Missouri-Columbia are studying how to use 3-D imaging to analyze the facial structures and brain abnormalities of autistic children, in the hopes of developing a formula to identify autism in young children. From a press release:

“When you compare the faces and head shapes of children with specific types of autism to other children, it is obvious there are variations. Currently, autism diagnosis is purely behavior based and doctors use tape measurements to check for facial and brain dissimilarities. We are developing a quantitative method that will accurately measure these differences and allow for earlier, more precise detection of specific types of the disorder,” said Ye Duan, assistant computer science professor in the MU College of Engineering. “Once we have created a formula, we can pre-screen children by performing a quick, non-invasive scan of each child’s face and brain to check for abnormalities. Early detection is crucial in treating children and preparing families.”
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“Instead of looking at brain structures slice-by-slice in an MRI (magnetic resonance image), we developed tools to create 3-D representations of the structures in order to visualize and make comparisons,” said Kevin Karsch, a research assistant in Duan’s computer graphics lab, MU senior and Goldwater Scholar. “Using the 3-D representations, we are comparing the brain structures of autistic children to those of non-autistic children; no one has ever done that.”

As autism is currently diagnosed through the observation of a child’s behavior, researchers believe that the development of a test, of a biomarker for autism, might result. Professor Duan’s studies rely on two “subgroups” of autism that have been hypothetically identified by Judith Miles, the William and Nancy Thompson Endowed Chair in Child Health at the Thompson Center:

She has observed and distinguished children with a tendency toward more physical and brain abnormalities and smaller heads as having complex autism. Only about 20 percent of affected children fit this subset. The other 80 percent are classified as having essential autism. Miles also has identified physical similarities in facial structure and increased cranium size among those in the essential group and has speculated that the traits may be related to brain abnormalities.

My own son was born with a large head (so was I) and he continues to have one (as do I).

Using functional magnetic resonance imaging, researchers affiliated with the University of Washington’s Autism Center have found an “abnormal pattern of connectivity” in the brains of autistic adults; this different neurological “wiring” may be responsible for social impairments that are one feature of autism. The study, which is published in the journal Brain, focused on the brain regions that process faces, the fusiform face area. From today’s Science Daily:

The research team led by Elizabeth Aylward, a UW professor of radiology, examined connectivity in the limbic system, or the network of brain regions that are involved with processing social and emotional information. Participants in the study included 19 high-functioning adults with autism who had IQs of at least 85. They ranged in age from 18 to 44 and were compared with an age- and intelligence-matched sample of 21 typically developed adults. The group with autism spectrum disorder included eight individuals diagnosed with autism, nine with Asperger’s syndrome and two diagnosed with pervasive developmental disorder not otherwise specified. The level of social impairment for each autistic participant was drawn from records of clinical observations and diagnoses that confirmed that each had autism.

Each participant had his or her brain scanned while looking at pictures of faces or houses. Participants were shown four series of 12 pictures of faces and a similar number of series showing houses. Each individual picture was seen for three seconds. Occasionally the same face or house picture was repeated, and participants were told to press a button when this occurred.

The two groups’ performance in these tasks did not differ significantly, but the groups exhibited different patterns of brain activity.

Compared to the participants with autism, the typically developing adults showed significantly more connectivity between the fusiform face area and two other brain regions, the left amygdala and the posterior cingulate. In addition, autistic participants who had the largest social impairment showed the lowest level of connectivity between the right fusiform face area and the left amygdala and increased connectivity between the right fusiform face area and the right inferior frontal gyrus.

The brains of autistic people, according to the study, do not work as “cohesively” as the brains of those without autism.

My son has a great memory for people —- certainly for every teacher and therapist who has worked with him and close relatives —- though I wonder if it’s not their faces that he might remember, so much as their voices, how they hold their bodies, and other features. He’s attuned to something else besides just their faces—while autistic individuals may process facial information differently, perhaps this enables them to see other things and notice what gets missed?

Dr. Keith Shafritz, an assistant professor of psychology at Hofstra University, is using a form of functional magnetic imaging to study why autistic children engage in repetitive behavior such as hand-flapping, rocking, and lining up objects. From today’s Newsday:

In children with autism, Shafritz found deficits in specific regions of the cerebral cortex, the outer layer of gray matter linked to all higher human functions, including repetitive behavior. He also mapped deficits in the basal ganglia, a region deep below the cerebral hemispheres.

“We like to think about the research process as discovering clues why people engage in certain behaviors,” Shafritz said last week. “We were able to identify a series of brain regions that showed diminished activity when people were asked to alter certain behaviors, and were not able to do so.”

Charlie’s never done too much hand-flapping or rocking but he does like to make sure things are placed in a certain order. He can be very upset when “asked to alter certain behaviors”—-to move one block out of the pattern he’d placed it in, in perfect alignment with the floorboards. (He’s become more easy-going about this in the past year.) Through research about the brain like Dr. Shafritz’s, I’ve gotten a better sense about why Charlie needs to do these things—for comfort, sometimes, and self-soothing. I worry less about whether or not they’re appropriate. Sometimes, I’ve learned, it just takes awhile for Charlie to “switch” between and out of certain activities.

Dr. Shafritz’s research is published in Biological Psychiatry.

According to Dr. Fernando Miranda of the Bright Mind Institute, maybe not. A report in the May 19th Good Morning America/ABC News describes some children who were initially diagnosed with autism, and later found to have Landau-Kleffner Syndrome. For some of the children, anti-seizure medication has produced dramatic results and Dr. Miranda is said to insist that “you have to look inside the brain to determine what’s wrong,” via MRIs and EEGs.

The ABC report portrays parents as greatly relieved to know that there is a medical issue for their child’s disorder, and that the child does not have autism:

To watch Beckett [Kavanaugh] 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 [his mother, Sarah Kavanaugh] 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.

Doctors told her to take Beckett off the anti-seizure drugs, and Kavanaugh did without telling anyone.

A few weeks later, Beckett’s speech therapist called, very concerned. Beckett was sliding backward quickly, Sarah was told, so she put him back on the drugs.

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.

We’ve speculated again and again that a seizure might be behind some of Charlie’s difficulties. Charlie’s had two MRIs and an EEG (not a sleep one) and there’s been no sign of seizure activity. By coincidence, the pediatric neurologist who Charlie sees specializes in seizures and epilepsy and he’s been very sure that Charlie is not having seizures. We’ve a few friends whose children do have Landau-Kleffner and/or epilepsy and there are differences in the types of teaching and other treatments that a child best responds to.

There’s something about finding a medical, biological, physical cause for a child screaming over and over or knocking his head on the car window that is reassuring. If you know that it’s a bad stomachache—or constipation from eating too much of certain things, perhaps—-plus a bad headache that is the reason for a tough day, a parent tends to feel that he or she can do something to “fix” it. I was reminded of this yet again this afternoon: Charlie asked to go swimming, got dressed in his swimsuit, sat in a chair unmoving. My suggestion to put on his shoes so that we could go brought on a bout of crying which continued in the car. I had to stop—-once at a major intersection—-three times and try to talk and calm down Charlie, who was almost in the back of our stationwagon at one point.

Jim and I think that Charlie’s having definitely entered puberty has a lot to do with these seemingly sudden outbursts of crying, anxiety, and head-swinging. I have been trying to recall my own adolescence, which was not happy; Jim has similar memories of being a miserable pre-teen. We know we’ve entered a new stage on the long road with Charlie. And when I think back to how I struggled to explain what I was feeling when I was 13, and think of how limited Charlie’s speech is, I hear how much he’s trying to say, even though the words aren’t there. I hope that we can sometimes pinpoint an actual reason for why Charlie is upset; I know that too often we may not, and we have to keep listening and learning.

The ABC News suggests that autism is a “label” better lost and one certainly feels some relief to find out the reason for a child’s illness. But: In the very recent past—sadly and terribly—a local mother here in New Jersey killed her middle-school son, who had been recently diagnosed with epilepsy. Families need to know that there is a lot of help and support for children with special needs and/or serious health issues and that there much that can be done.

And that, any label is just a label, and that it’s just the first step in trying to figure out how best to truly help one’s child.

The previous post considered a physiological marker for autism that draws on research on the brain responses of adolescents with Asperger Syndrome playing an interactive game. Drs. G. Bradley Schafer of University of Nebraska and Nancy J. Mendelsohn of Children’s Hospitals and Clinics of Minnesota have published an article in the January issue of Genetics in Medicine that outlines a three-tiered “practical, stepwise approach” to the genetic diagnosis of autism that will ” a specific genetic diagnosis in approximately 40 percent of patients with autism-spectrum disorders.” Medical News Today provides an overview (my emphases added):

The first tier of genetic evaluation includes tests that should be performed in nearly all children with no obvious cause of autism. For example, chromosome tests may identify fragile X syndrome a common cause of inherited mental impairment that may be accompanied by autistic symptoms. Testing for certain metabolic disorders or for rubella infection may pinpoint a specific cause of autism. If one of these causes is identified, no further genetic testing is needed, and patient/family counseling can begin.

If not, testing enters the second tier, including tests for specific gene mutations known to cause autism. The choice of tests may be guided by certain clinical characteristics. For example, autism in girls has been linked to mutations of a gene called MECP, while autism accompanied by abnormal head size may be related to mutations of the PTEN gene.

If necessary, testing proceeds to the third tier, possibly including a magnetic resonance imagine (MRI) scan of the brain. (Some doctors may recommend MRI scanning earlier in the testing process.) Even if the MRI scan doesn’t show any specific cause of autism, it may still provide useful information for doctors and parents. Tests for other possible genetic causes may also be done, although the value of these tests is so far unclear.

Evaluation by a professional trained in the diagnosis of autism needs to be carried out prior to genetic diagnosis, the study emphasizes.

My son received both the first and third tiers of the proposed genetic diagnosis, though not in any systematic order. He was tested for Fragile X at the time that he was being evaluated for developmental and speech delays back in July of 1999, and he has had two MRIs (which revealed that he has more white matter in the same parts of his brain as do other autistic persons). The truth of the matter is, by the time he was diagnosed, we knew very well that he had autism based on his lack of play skills, no language or communicative skills, and other behaviors as outlined in the DSM-IV. And at that point, getting the diagnosis was crucial in helping us to start to think about how to help Charlie, and this post by the mother of a girl named Maizie says why, and powerfully.