Autism: Locked in a Solitary World (continued)
Autism is a developmental disorder that affects certain functions of the brain, particularly social interaction, communication and behavior. Its onset occurs during the first years of life, anytime from infancy to three. In some cases, children who appear completely normal for two years suddenly display symptoms. The Centers for Disease Control and Prevention (CDC) estimates there are about 400,000 people in the United States with autism. That number is approximately 3 to 4 times higher than it was a decade or so ago. Researchers believe the increase may be due, in part, to better recognition of symptoms and earlier diagnosis.
"It's been more than 50 years since autism was first described, and that description has changed little since. But physicians are now diagnosing the condition earlier, intervention is taking place sooner and newer drugs are helping children and their caretakers cope with this devastating disorder. "
Gender is a factor in autism: Of the 12 to 15 in 10,000 children who are affected, there are four times more boys than girls. Socioeconomic and educational levels have no bearing on whose children have the disorder, and neither does race and ethnicity. In most cases, the cause is uncertain, and so far, there is no cure.
Most researchers agree, the key symptom is the deficit in social interaction. Parents often report that as infants, their autistic children didn't smile or respond to voices, made almost no eye contact with them and stiffened when they were held. As the child grows, he may not respond to anyone around him and may not attempt to form friendships with peers. He prefers to play alone, and does not engage in imitative play, or "make believe." If he does involve someone else in his play, it's only as a tool. He is totally oblivious to others' feelings -- good or bad. He may perform stereotypical motor movements, such as flapping the hands, rocking, pacing, repetitive finger movements or twirling on his feet. Some repetitive actions are more complex, like flipping light switches or flushing toilets.
Another hallmark of the disorder is the lack of communication. About 40 to 50 percent of those with the disorder are mute. The rest run the gamut from echolalia, or mimicking the words of others without comprehension, to speaking coherently. Au- stic individuals won't initiate or sustain conversation, won't substitute nonverbal communication, such as pointing, and may continually repeat jingles or commercials. The pitch, intonation, rate, rhythm or stress of the speech may be abnormal, and the person doesn't understand questions, directions or jokes.
Even worse, this devastating disorder almost never occurs alone. About 75 to 80 percent of the individuals are mentally retarded or have severe learning disabilities. Only about 25 percent have average to exceptional IQs, and only a few are like Raymond, who was a savant. An individual's developmental level determines how well he functions. Raymond would be considered high functioning, and on the opposite end of the continuum would be an individual who is profoundly retarded with almost no abilities. There are other disorders that can occur with continued autism: obsessive-compulsive disorder, hyperactivity, bipolar disorder, and attention difficulties are the most common. A child may also demonstrate any combination of aggression; mood swings; over-sensitivity to stimuli such as noise, light, or odor; abnormal eating habits, like eating only a few foods prepared a certain way; preoccupation with particular objects; fascination with events that occur regularly, such as a train that passes at the same time each day; and tantrums and self-destructive behavior, especially when routines or specific behaviors are disturbed.
Andrew Levitas, MD, who is a psychiatrist and medical director of the Division of Prevention and Treatment of Developmental Disorders at UMDNJ-School of Osteopathic Medicine, says there are also physical manifestations of the disorder. Ongoing gastrointestinal disturbances, especially diarrhea, are common, and about 25 to 30 percent of autistic individuals suffer from seizures.
"Perhaps one of the worst things for the parents is that these kids have no fear of real dangers,"he says. "I know of kids who couldn't sleep so they wandered off in the middle of the night. A three-year-old boy in Chicago was found walking around the Loop at 2 a.m., and a 5-year-old was discovered riding his bike down the center of Ventura Freeway, just as the sun was rising." Levitas adds that, ironically, those same children may be excessively fearful of completely harmless objects. It is easy to understand why parents of autistic children are heartbroken. Most will never play with their kids or know the joy of shared affection, although a few autistic kids do play and hug. And they often feel completely overwhelmed.
"These parents have very restricted lives," says Levitas. "They constantly have to deal with the child's abnormal behavior, not to mention the guilt many feel. And it's next to impossible to get away, because who would babysit? It can be very destructive of family life."
It was 1943 when autism was first described by Leo Kanner, MD. He wrote of a small group of patients in his child psychiatric practice who shared clinical symptoms of social isolation, severe language abnormalities and unusual responses to the environment. These are the same symptoms seen today. At that time, however, it was believed the children's mothers were to blame. Labeled "refrigerator mothers," these women, it was thought, were cold and detached and did not give their babies the love and physical contact they needed to properly develop. Watching autistic infants, who typically arch their backs and become stiff when held, may have prompted experts of the day to come up with that conclusion.
Today scientists know autism is organic in nature. About 10 percent of the cases, Levitas says, are caused by encephalitis; phenylketonuria, an inherited metabolic disorder; Fragile X syndrome; congenital rubella; epilepsy; and tuberous sclerosis, a disease that produces growths in the brain and other organs.
But the cause of 90 percent of the cases still remains a mystery. Some experts suggest neurotransmitter dysfunction in the brain, while others point to defective cell migration during brain formation, hormonal irregularities, environmental toxins, vaccines, or obstetrical complications. EEGs, CT-scans, MRIs, PET scans and autopsies done on people with autism do show a greater incidence of abnormalities than normal controls; however, a clear pattern has yet to emerge. And there are no blood tests specific for the disorder.
Some scientists strongly believe genetics play a role. Marvin Schwalb, PhD, director of the Center for Human Molecular Genetics at UMDNJ-New Jersey Medical School (NJMS), says research has shown two presumptive sites that may contain the gene, or genes, for autism. But the research is still in the early stages. And sorting out the genetics of autism is difficult, he says, for a number of reasons. First, it may have both genetic and non-genetic causes. A person may have the mutated gene but an external trigger might be necessary for the disorder to actually occur.
"If it is genetic, there may be more than one gene responsible," he says, "and the fact that we cannot sort out which gene may be involved in any particular person greatly complicates analysis."
Another problem, he says, is that the number of people who have the mutated gene and actually get autism may be very low. And lastly, Schwalb says, in order to study the genetics of autism, statistical data from many families, each with three generations of autism, are preferred. These families are extremely rare, if they exist at all. "Autism is what we call genetically lethal," he says. "That means people who have it don't usually have children. If it is not passed on, the genetics are difficult to study." But he's optimistic. "We'll find the answers, it may just take a little longer than we'd like."
Diagnosing autism is not much easier. Audrey Mars, MD, clinical assistant professor of pediatrics at UMDNJ-Robert Wood Johnson Medical School, is trained in the clinical diagnosis of autism. She is currently helping to confirm diagnoses of children in Brick Township, where a possible autism cluster is being investigated. She is also working with the Coriell Institute in Camden to develop a gene resource bank.
Mars says she begins by conducting a two-and-a-half-hour autism diagnosis interview with parents. Then she brings out what she calls her "bag of tricks." She uses toys and games to test the child's language and communication skills, his ability to carry on reciprocal social interaction, his methods of play, and his behavior. The tests are specific to the individual's language ability. For example, she asks a small child who speaks very little to do a "construction task," such as putting pegs in holes. When he runs out of pegs, she notes how he asks for more. Does he reach over her arm for more pieces? Does he gesture, ask for more or simply grunt?
Next he is given small plastic dolls and furniture. The hope is that he will play imitatively, perhaps "making believe" the people are, say, eating or dancing. Does he do that, or just suck on them? She then asks to join in the play. Can he play interactively? Does he build on the play she initiates? She gives 14 of these tests, scrupulously observing the child.
For an older child or adolescent, the testing involves more verbalization. Mars says she may ask the teen to tell the plot of a movie he's seen and to describe something that makes him happy, sad or angry and how that feels inside. Does he gesture when describing things? Do his intonation and facial expressions change? The tests assess the individual's ability to initiate and sustain conversation and his insight into emotions and social relationships.
The results are compared to the criteria for autism in the Diagnostic and Statistical Manual-IV (DSM). Somewhat of a bible to the mental health profession, this book is used in making diagnoses of mental disorders. Autism has been classified among the Pervasive Developmental Disorders, or PDDs. The other four disorders in this category are very similar to autism, and to each other, with overlapping symptoms that have subtle differences in number and severity. The diagnosis can be tricky.
Spring/Summer 1999 Table of Contents
The magazine of the University of Medicine and Dentistry of New Jersey