Early Detection of Autism
UF psychologist hopes movement disorders may prove valid diagnostic marker
Although there is no cure for autism, CLAS psychologist Philip Teitelbaum hopes that a diagnostic technique his research team is developing will eventually help parents and pediatricians seek treatment for the disorder early enough to curtail and possibly even reverse its effects.
"Too often we hear from parents of autistic children that despite their early concerns, a pediatrician assured them their baby was perfectly normal--would grow up to be the president of the United States--when in fact, the child is autistic," Teitelbaum says. "It's not until the child is three or even as old as five, when verbal or social limitations become obvious, that diagnosis occurs."
The key to earlier diagnosis, explains the Graduate Research Professor, is observing for specific movement anomalies, which he feels are integral to the disorder. According to Teitelbaum, autistic children learn to sit up, turn over and crawl in a noticeably different manner than normal children, a function of the same wiring problem in the central nervous system that later causes the social/verbal symptoms commonly associated with the condition. Since Teitelbaum's research indicates the possibility of detecting these movement problems at three to six months of age, autistic babies may soon be able to receive early treatment therapies during the period of crucial brain development (zero to two years of age).
Although researchers have noted movement abnormalities in autistic individuals before, the current literature on autism overlooks or denies the possibility that movement disturbances are a symptom of the disorder. For example, Bernard Rimland, a leading researcher in the field, wrote in a 1993 article that it was "ludicrous" to think movement problems were typically involved in autism.
Teitelbaum became convinced otherwise several years ago. While studying a gait disorder commonly found in patients suffering from Parkinson's disease, he attended a talk that changed the focus of his research. "I heard my colleague UF psychiatrist Ralph Maurer deliver a paper on similarities between the way Parkinsonian adults and autistic children walk," he explains. Teitelbaum's curiosity was piqued, and after he and his wife, Osnat, a movement analysis expert, examined videos of autistic children, they felt sure that a movement disorder was indeed a key component of the condition.
Next, the Teitelbaums advertised in the monthly publication of the National Committee on Autism and on the e-mail list run by the Autism Society of America, requesting early videos of autistic children. They received 17 such videos, all shot well before the children were diagnosed. Together with doctoral student Jennifer Nye, the Teitelbaums taped key parts of these videos--the children attempting to master developmental milestones like turning over, walking and crawling--on an optical disc recorder, which made careful, blur-free, frame-by-frame movement analysis possible. Using footage of 15 "normal" babies as a control, they examined and documented the children's movements with Eshkol-Wachman Movement Notation (EWMN). EWMN is a general analysis system in which spherical coordinates are applied independently to each segment of the body. This technology allows researchers to distinguish between those segments that are actively moving and those that are being carried passively along, making a deeper understanding of abnormal movement possible.
The results of the Teitelbaums' video analysis were astounding. Every single autistic child demonstrated at least one movement disturbance by six months of age. The group published an article in the November 10, 1998 issue of the Proceedings of the National Academy of Sciences detailing their findings. Osnat, who studied EWMN with the Noa Eshkol in Tel Aviv for 20 years, points out that this is the first time EWMN technology has been used in a medical diagnostic context. "It's a pioneering use of the technology," she says, "and may eventually prove useful in the diagnosis of other developmental disorders."
Armed with segments of video, Teitelbaum can demonstrate that among other things, autistic babies have difficulty supporting themselves to crawl. In an attempt to move forward, they may rest weight on their elbows and forearms, dig their toes in and lift their rumps. Or, struggling to pull themselves along, these babies might leave one arm underneath the torso while attempting to crawl with the free arm (FIG. 1) or may crawl atypically, with one leg stepping while the other leg moves normally. Similar movement problems are seen earlier in turning over or "righting" (FIGs. 2-3), and later in walking.
Moebius mouth (a flat lower lip and arched, oval-shaped upper lip, FIG. 4) is also present in a number of the children the Teitelbaums observed on video. "Not all autistic children have it," he says, "but when a child does have it, we feel it's a possible indicator of autism." And since the condition is noticeable in autistic infants as young as one month old, moebius mouth may prove to be one of the very earliest signs of the disorder.
An important breakthrough came for the group in January of this year. Teitelbaum was sent early home video footage of twins, and was told one of them had been diagnosed with autism. It was the first time the group was given the opportunity to predict the disorder in an unknown situation. Teitelbaum attended the Cure Autism Now (CAN) annual conference in LA on January 17 to present his findings. He explained his theory and methods to the audience and then revealed which child on the video was autistic: both of them, one severely and the other much less so. The mother of the twins, who had been sitting in the back of the room, stood and said in disbelief, "You are exactly right." Although one of the boys was critically affected by the disorder, she explained, it had later become apparent that the other was mildly autistic, too. Her confirmation validated the UF group's work. "It was an exhilarating moment," remembers Teitelbaum.
Of course, the group still needs to conduct a formal study to prove that movement disorders are an accurate way to diagnose, but Teitelbaum is optimistic. "If we do a trial using videotapes of 10 autistic children and 20 normal children, all of whom are anonymous, and we're able to pick 10 out of 10--even nine out of 10--with no false positives, then we have a valid predictive method."
With the recent spate of publicity they've received on their important findings (an article in the New York Times, a feature on Good Morning America and an upcoming segment on 20-20), the group is hoping to attract funding for the production of a diagnostic video. "It will be a self-explanatory 'stand alone' video for people all over the world to use to understand and recognize some of the movement disturbances associated with autism," explains Teitelbaum. "We hope it will help parents screen their kids for autism so they can get professional help more quickly, and that it will become required viewing for pediatricians as well."