AnnaM's blog

Pierluigi Gambetti, one of the discoverers of the condition known as fatal familial insomnia (FFI), claims that it is "the worst disease you can get." (5) Given the vast number of diseases in the world, Gambetti's claim seems farfetched at first glance, maybe even selfish; who wouldn't want to take credit for discovering one of the worst diseases in the world? But a quick overview of the disease presents solid evidence in favor of the claim- and some interesting insights about the many tasks of the I-function.

FFI has been discovered in only 28 families worldwide; it is an autosomal dominant gene mutation, meaning that a parent with the disease has a fifty percent chance of passing it on to his or her child (2). That much is predictable. But every other aspect of the disease is wildly unpredictable, forcing family members to make difficult decisions. If parents have such a high chance of passing on the disease, one might ask, why don't they simply choose not to have children? The answer: FFI , unlike many other fatal genetic conditions, doesn't appear until the victim is middle-aged, and tests to see whether parents carry the FFI mutation only recently became available (1). Here the first questions of the I-function, and the first paradoxes of the disease, appear. If this disease occurred in childhood, natural selection would have long ago done away with it. Because it does not strike until middle age, however, parents who may be carriers must make difficult decisions about childbirth. Paradoxically, it is in the parents' best interest to have more children, in order to ensure that at least some live FFI free into old age. More children, however, also means more potential FFI cases- a tough paradox for the I-function to work through.

The more unusual neurological problems we've discussed in class this semester- complete loss of proprioception, phantom limbs, "unilateral neglect" (inability to perceive objects on either the right or the left)- are certainly interesting to consider in theory. In practice, however, it's hard to imagine how someone with one of these problems would function and perceive the world. Because their situations are "abnormal," deviations from typical neurological wiring, they can be very difficult for a "normal" person to grasp intuitively- unless they have a human example to connect the disorder to.

The United States (and much of the rest of the world) times work and school days in relation to the 24 hour solar day. In order to be awake at socially acceptable times for work and school, then, a person's internal clock, or circadian rhythm, must also conform to the 24-hour day. Common thinking holds that cycles may vary considerably within that 24 hour framework- hence "night owls" and "morning people"- but no one can completely diverge from the 24 hour pattern.

According to the current edition of the Diagnostic and Statistical Manual, the disorder known as autism has three major groups of symptoms. The first group concerns social relationships; an autistic person may lack interest in social relations, or fail to pick up on nonverbal social cues. The second group encompasses language deficits; some autistic people never learn to speak at all, and those who do may have a limited vocabulary or only repeat what others have said. The final group of symptoms includes rigid routines and interests. One of the best-known symptoms of autism is a narrow or obsessive interest in a certain narrow field, such as trains or maps. In the same vein as these narrow interests, an autistic person may insist on an identical routine every day, or adhere to certain repetitive motions, such as hand-flapping or rocking in place (4).

Given that so many of the behaviors that autism affects, especially speech and perception, are associated with the nervous system, researchers have been working to understand the neurological bases of autism for years. Despite intensive research, however, no exact neurological or physiological cause or causes of autism have been precisely identified. Some researchers suggest that mirror neurons, which register associations between actions performed by the self and another person, are less active in autistic people, which may account for some of their difficulties with social interactions (2) Some suggest that mercury, both from the environment and from the preservative thimerosal, formerly used in the measles mumps rubella (MMR) vaccine, can serve as a catalyst for the disorder (9), although this theory is controversial and has been discredited in many larger-scale epidemiologal studies (7). But many people, noting the diverse array of symptoms that most autistic people present, do not believe that any one theory can explain the condition. Instead, they believe that a number of factors, working together in complex and unpredictable ways, bring about the condition; to try to find a single cause, they say, is a tough, if not altogether fruitless, goal (8).
Since the exact sources of autism are so elusive, physicians and therapists who work with autistic people cannot attack its neurological or physiological root causes directly. Instead, they often focus on changing the autistic person's behavior in childhood, encouraging actions like language use and eye contact and discouraging actions like self-injuring behavior which may affect quality of life later. The most common technique for changing these actions is Applied Behavior Analysis, or ABA. The specific behaviors targeted with ABA differ from child to child, but the basic principles and techniques are similar across cases. The technique, in its most basic form, involves reinforcement for acquisition of "normal" behaviors (such as grammatical speech or eye contact), lack of reinforcement for more "abnormal" or "stereotypically autistic" behaviors (such as repetitive motions or temper tantrums following a disruption of routine). Gradually, reinforcement for the positive behaviors is reduced, and eventually it stops entirely; at this point, it is hoped that the positive behaviors will carry over into other areas of the child's life, outside of therapy sessions (1).
Many autistic people, however, question both the effectiveness and the ethical integrity of ABA (6). One especially vocal opponent of the therapy is an autistic woman named Michelle Dawson. Consider the following claims from her 2004 piece "The Misbehaviour of Behaviourists" (3).