=========================== JeffNEWS, November 15, 1994 =========================== New Protocol Permits Accurate Diagnosis, Earlier Treatment for Disorders That Resemble Autism ---------------------------------------------------------- Speech regression occurs in at least 30 percent of children diagnosed either with autism or pervasive developmental disorder. "When children who've been developing speech normally experience a regression in their ability for no apparent reason, it may indicate a condition other than autism that can benefit greatly from treatment," says Gerry A. Stefanatos, DPhil. Dr. Stefanatos is clinical associate professor of psychiatry and human behavior and director of the center for clinical and developmental neuropsychology at Jefferson. "We need to spread the word that such children can be helped, especially since the sooner treatment begins, the better the children do," he said. Dr. Stefanatos knows this from having successfully diagnosed and treated children with this type of condition. One of them is TJ, the son of Kathy and Jim Voltz who live in Pittsburgh. The Voltzes just didn't believe that TJ was accurately diagnosed when he was labeled as autistic at age 3 or, later, with a similar condition called pervasive developmental disorder. Autism is a severe developmental disorder that becomes apparent early in life and generally doesn't respond to medical treatment. Children with autism interact inappropriately with others, have very abnormal language and communications skills, prefer to play alone and use toys differently. TJ's development proceeded normally in all respects until he was about 18 to 22 months old. Then his speech started to regress so he was saying things like "buh" instead of "ball, and "cuh," instead of "cookie." His behavior also started to deteriorate. His parents seriously questioned the accuracy of the diagnosis because of TJ's normal progress until then and the fact that a professional who had worked with autistic children for 25 years said that he was unlike the other autistic children she had known. While he exhibited many behaviors associated with autism, such as repeating words without understanding them, stereotyped movements, tantrums and inattention to verbal communications, he remained affectionate with his parents. To learn more about their son's problem the Voltzes subscribed to a newsletter on autism research in which they read a letter on a condition called Landau-Kleffner syndrome, which can be characterized by language regression and behavior difficulties like TJ's. Unlike autism, the letter suggested, Landau-Kleffner syndrome can resolve with medical treatment. The letter was written by Dr. Stefanatos who has been involved since the 1970s in diagnostic testing to learn how the human auditory system processes complex sound signals. He now has a four-year, $500,000 grant from the National Institute on Deafness and Communication Disorders of the National Institutes of Health to study the neurophysiologic basis of auditory processing problems in children with developmental and acquired language disorders. TJ was almost 6 when his parents brought him to Dr. Stefanatos. The boy had an active vocabulary of only about 50 words and a history of disturbed behavior. Dr. Stefanatos performed extensive testing that indicated a diagnosis of acquired receptive aphasia (ARA). This means TJ's condition occurred after birth, the possible result of a virus or an allergic (immune) response to something in his own body. This disorder reflects damage or dysfunction to brain centers involved in the ability to distinguish among speech sounds, which, in turn, leads to an inability or difficulty in speaking and understanding speech. Unlike most autistic children, a child with ARA has normal nonverbal intelligence and can learn when the communication disorder is circumvented. The ability to receive sounds occurs in the same portion of the brain, the temporal lobe, which modulates many complex aspects of behavior, such as aggressiveness, irritability and emotional stability. This may explain why TJ's behavior deteriorated along with his language ability. While TJ's problem differed from Landau-Kleffner syndrome in some respects, it was similar enough that Dr. Stefanatos and his colleagues, among them a pediatric neurologist, decided to treat the boy with corticosteroids, the same medication effective for Landau-Kleffner. After just 28 weeks of treatment, begun in June 1993, the boy's verbal language ability increased by two-and-a-half years and his behavior improved remarkably. "He speaks clearly now, in full sentences, makes sense and is relating to people," Dr. Stefanatos said. Things have progressed so well that this fall TJ started second grade in a regular school where he's doing well. "Now that TJ understands what we mean when we talk to him, he's just the best behaved little boy in the world," says his mother. "A few years ago, we wouldn't have believed he'd be doing this well." About The Tests That Changed a Boy's Life ----------------------------------------- The test protocol that led to an accurate diagnosis and effective treatment for a Pittsburgh boy wrongly diagnosed with autism, an untreatable disorder, had its start in the 1970's at Oxford University, England. There, Gerry A. Stefanatos, DPhil, now clinical associate professor of psychiatry and human behavior and director of the center for clinical and developmental neuropsychology at Jefferson, was working with a team investigating how the brain processes complex sound signals. Dr. Stefanatos continued the work and by 1989, it was clear that the technique the team developed was sensitive enough to detect Landau- Kleffner syndrome in children. This syndrome adversely affects the brain's temporal lobe, which, among other things, governs speech processing and behavior. The test protocol consists of: o SPECT, single positron emission computed tomography o Magnetic resonance imaging o A specialized form of evoked potentials where sound waves that mimic those of speech are directed at the temporal lobe to see what response they produce there o An electroencephalogram during which the patient is sedated with Amitriptyline, a medication that accentuates brain wave abnormalities you couldn't see otherwise o Neuropsychological testing to see whether the patient's nonverbal intelligence is normal, a key component in Landau- Kleffner syndrome Parents from other states and Canada, Britain and Australia have inquired about coming to Jefferson's center for clinical and developmental neuropsychiatry in the division of clinical and adolescent psychiatry for this specialized evaluation. For information or to make an appointment, call 1-800-JEFF-NOW. ------------------------------------------------------------------------------ Information provided by: Editor, JeffNEWS (215) 955-6204 ------------------------------------------------------------------------------