Payvand Milani
12/12/06
Consciousness Term Paper
Unveiling the Battle that Autistics Fight
Throughout the past few years, I’ve heard the word “autism” being thrown around casually, referring to some sort of disorder in humans that I was quite clueless about. It just so happens that one of the students in the Integrated Studies program is autistic, and furthermore, is in one of my classes. At first, I was frankly exasperated by his uncanny behavior, but once somebody mentioned to me that he was a victim of autism, I invoked my previous encounters with the word and decided to increase my knowledge and understanding of the actual disorder itself. Simultaneously, I planned on discovering how autism manifests itself in the brain and which brain functions are affected.
Roughly 70 years ago, in 1943, an American psychiatrist by the name of Leo Kanner and a pediatrician named Hans Asperger both independently discovered this disorder which .5% of American children are attempting to cope with today (Ramachandran, 2006). Quite coincidentally and miraculously, neither of the researchers was remotely aware of the works and studies of the other as they separately pursued their own interests. Not only did they both arrive at the discovery of this developmental disorder on their own, they each in fact independently named the syndrome “autism”, coming from the Greek word “autos” meaning “self”. The name given to the disorder is rather apt, however, as the most noticeable aspect of the disorder is withdrawal from and avoidance of social interaction. Since the illness has numerous similar variations that vary greatly in severity but share some of the characteristic symptoms of autism, physicians have recently coined the term “autism spectrum disorder” to make clear that it exists in more than one type (Ramachandran, 2006).
All autistic infants don’t necessarily exhibit the same characteristics after birth. Two of the most commonly seen responses to the caregiver soon after birth are arching their back to avoid physical contact with the hands of the caregiver and failing to anticipate being picked up (ascertained by watching the baby go limp). Often, babies with autism will either be referred to as “passive” or “overly agitated” babies. Those that are passive are usually quiet, hardly cry, and demand extremely little, if anything, from their parents. Overly agitated babies cry a great deal of the time, sometimes nonstop, and in some cases begin rocking their cribs and hitting their heads on the sides of it. At least 16 of every 10,000 live births are born with autism or one of its related disorders (Rodier, 2000). Additionally, males have three times a greater chance of being affected by autism. This unequal ratio is not unique to autism as many developmental disorders have been seen to follow the same trend.
During their early years of growth, some autistic toddlers learn to walk, talk, and make other memorable achievements much later or much earlier than the average child. Just about half of the children who end up having autism develop like normal children until they reach somewhere in between the age of one year and a half and three years old before the symptoms begin to appear; these toddlers are said to have “regressive” autism (Edelson, 1999).
The various symptoms of this complex behavioral disorder are generally apparent before a child turns three years old. It’s during this childhood that some children may conspicuously fall behind other children their age mainly in the areas of cognition, social skills, and communication. In addition, dysfunctional conduct such as self stimulatory behavior (i.e. rocking or flapping hands), self-injury, sleeping and eating problems, and attention deficit may begin to emerge. Autistic children can’t empathize with others and are unable to understand others’ emotional states; for example, they lack the ability to recognize anger, sorrow, or even manipulative intent in others. Their weak language skills make it difficult to start or continue conversations.
Additionally, autistics may frequently show an obsession with a single subject, activity, or gesture that may seem trivial or immature to an outside observer. A characteristic that most autistics have in common is the insistence on “sameness”, or in other words, not being able to handle changes in the routines of their life (Edelson, 1999). For example, an autistic child may throw a tantrum simply because he or she isn’t able to eat the exact same meal for dinner every night. Also, taking the same route to school and wearing the same clothes each day are other examples of this insistence. A few of the diagnostic categories found in autistics are: lack of gestures and facial expression in social interaction, failure in using eye contact, inability to seek comfort, and great difficulty in forming relationships with their peers. Often, autistic children suffer from mental retardation. Intense behavioral therapy does improve the condition of many patients, but due to their symptoms, it’s usually nearly impossible for them to live completely on their own later in life, even if their IQs may be normal.
Furthermore, some autistics face difficulties during the transitional years of puberty. Nearly a quarter of all people with autism experience a seizure for the first time during puberty, resulting potentially from changes in hormones (Edelson, 1999). While many behavioral problems can become more frequent and conspicuous, some autistics cruise right through puberty without encountering hardly any of these hindrances. From residential facilities to group homes to even living independently (rare), many autistics are living their lives today receiving an education in universities and exercising their freedoms. One unfortunate truth is that due to their social awkwardness and the fact that they stand out greatly amongst “normal” people, it’s typically difficult for them to find jobs.
Researchers have been able to show that autism runs in families in an indirect way by analyzing the inheritance of the syndrome. The siblings of those who are autistic have a three to eight percent chance of being diagnosed with autism itself (Edelson, 1999). Relatives of people with autism might not exhibit all the symptoms that the official disorder entails but may still have some of them. Studies done on twins in the United Kingdom have confirmed that while there is definitely a hereditary component involved with autism, influences from the environment may also play a significant role. The reasoning is that if heredity is the only factor involved, then identical twins, whose genes are identical, should have a 100% chance of having autism, for example. However, studies show that when one twin is autistic, the other one’s chances of being diagnosed with the same disorder is a mere 60%. Simultaneously, the second twin also has an 86% chance of having an exhibiting some of the symptoms of autism (Edelson, 1999). With these results, it makes sense that scientists concluded that there must be at least another factor (or other factors) involved in being autistic other than purely genetic.
Since there are numerous types and variations of autism, a set of subgroups exists to further differentiate between the related, but distinct, disorders. The five most common subgroups are Asperger Syndrome, Fragile X Syndrome, Landau-Kleffner Syndrome, Rett Syndrome, and Williams Syndrome (Edelson, 1999). Each of these differs slightly in its own specific way, but they’re all are quite interconnected in a broader sense and share commonalities. Victims of Asperger Syndrome have no delays in communication, intelligence, and language development. Severe impairment in social interaction and development of repeated types of behavior are both common. The most common known cause of autism-like behaviors is Fragile X Syndrome, or FXS, a disorder that’s also the most commonly inherited form of mental retardation. Individuals with this syndrome are generally known to be friendly, loving, and with a sense of humor. The Landau-Kleffner Syndrome is a rare neurological childhood disorder during which the ability to understand speech is lost, previously learned language skills slowly worsen, and symptoms often don’t emerge until somewhere between the ages of 3 and 7 (see regressive autism mentioned earlier). Child victims are often hit with convulsive epileptic seizures and sometimes lose the ability to identify sounds from the environment (or show minimal attention to sounds in general). In Rett Syndrome, the child develops normally at first, but then loses all essential use of the hands and usually has severe mental retardation. However, it is the only subgroup of autism that affects females almost exclusively. Lastly, in Williams Syndrome, individuals are quite sociable but have problems with calcium balance and experience narrowing of their aorta. As a rare condition, it is caused due to missing genetic material on a copy of the seventh chromosome, typically being a result of random mutation. The characteristics of the subgroups of autism above mostly mention the key differences among them. While there may be more than one commonality among them, the best-known and most apparent is the avoidance and impairment of social interaction (Ramachandran, 2006).
In the above paragraphs, the informational and factual side of this behavioral disorder has been discussed, focusing solely on what it is. Now, more light will be shed on how autism is manifested in the brain and what neural structures are affected by it.
While the exact cause for autism has not yet been discovered, evidence is growing that autism may be the result of various problems. Firstly, as described earlier, genetics could definitely play a role in the development of autism. An example portraying this idea is that a pair of identical twins have a greater chance of both being autistic than fraternal twins do, as can be verified by looking at the percentage of genes that overlap in each case. Simultaneously, evidence exists that viruses can cause autism. For example, exposure to the rubella virus during the first trimester of pregnancy has shown to increase the risk of the child having autism. Furthermore, there is concern that the small dose of viruses in vaccinations such as the measles component of the MMR vaccine could cause autism. One final thought is that the pollution and toxins in the environment can bring about the disorder. The reasoning involved is that a relatively large proportion of the population of a small town in Massachusetts was found to have autism. This town of Leomenster used to be the site of a sunglasses manufacturing factory, and not surprisingly, the houses in the town that were located down-wind from where the smokestacks used to be had the largest proportion of autistics living there.
Throughout their research, scientists have found a number of abnormalities in the brains of autistics. The effects that these abnormalities have on behavior and the reason they exist at all has not been discovered yet. However, these oddities in brain structure have been divided into two groups: abnormal biochemistry of the brain and dysfunctions in its neural structure (Edelson, 1999). With respect to brain structure, Drs. Bauman and Kemper studied the brains of autistic individuals who were dead and noted that the amygdala and hippocampus (components of the limbic system), parts of the brain associated with learning, memory, sensory input, aggression, and emotion, were underdeveloped. A few areas in the brain responsible for attention were also smaller, and sometimes larger, than normal in these people. Regarding neural biochemistry, unusually high levels of serotonin have consistently been found (in roughly one-fourth of autistics) in the blood and cerebral spinal fluid of autistic individuals (Hewetson, 2002). Apart from the brain, the immune systems of autistics more often than not tend to be quite weak, resulting from a low number of t-cells that typically help battle infections.
Efforts to unveil autism continued to progress. While Marilyn T. Miller from the University of Illinois at Chicago and Kerstin Stromland of Goteborg University in Sweden were studying specific physical problems in individuals who’d been victims of thalidomide, a morning-sickness drug that resulted in an outbreak of birth defects in the 1960s, they noticed that roughly five percent of the victims had autism (Rodier, 2000). This observation suggested that it’s during the beginning weeks of the pregnancy period that autism originates. It makes sense because the autistic victims of thalidomide were exposed to the drug while still in the womb (first weeks of pregnancy) and must’ve “gotten” autism around that time frame as well. For embryologists, when something happened in an embryo is the most important piece of information. In the case of these autistic-due-to-thalidomide individuals, the key period occurs much earlier than many scientists would have thought. Other relevant effects of autism include changes in the brain stem, the area right above the spinal cord. Apart from simply having shorter brain stems than normal people, autistics have certain components of their brain stem missing, shifted in position, and different in size (Rodier, 2000). Changes such as these could only occur during early gestation.
In the past decade or so, scientists at the University of California, San Diego, have been trying to discover whether or not there is a connection between autism and a recently-discovered type of nerve cell in the brain called a mirror neuron. Studies of autistic individuals have consistently displayed a deficiency in mirror neuron activity in various regions of the brain. Since these neurons seem to be associated with abilities such as empathy and perception of someone else’s intentions, it made sense to imagine that if the mirror neuron system didn’t function correctly, the result might be some of the symptoms of autism. Throughout the past decade, various experiments have repeatedly confirmed this theory. Pursuing studies of these mirror neurons has the potential of eventually explaining how autism arises, which will in turn enable physicians to diagnose and successfully treat it.