Autism Genetics: Is My Suffering Necessary to Society?





I have recently lost my job of 9 years doing medical transcription due to a new computerized system that reduced the need for my services. I was hoping that I would not have to apply for another job from which I would be fired, but this time hope did not spring eternal. I was let go after just a little over a week. Another job was so terrible I resigned after less than two weeks and the company did not pay me for the work I did. At age 51 I will have to contemplate retirement due to my inability to make a living. I have also never had a girlfriend. I have very few friends. I have self-stimulatory behavior that I can’t control and it is difficult for me to do anything productive. I have a phobia of birds. I have such severe perceptual motor problems that I can hardly handwrite or print. I am constantly reprimanded by my parents and others for my loud voice. I am scrutinized and stared at for funny movements. The reason for these problems is that I have an autism spectrum disorder.

I have read there is a flip-side to my suffering; it is a blessing because it contributes to the betterment of society. Research seems to suggest that autism has at least a partially genetic etiology or at least a predisposition to autism is genetic. Therefore, without autism genes there would be no autism. There is a school of thought that these autism genes confer an evolutionary advantage in certain cases. Temple Grandin has stated in her writings that if it were not for the autism gene there would be no creativity and the world would be populated by bland accountants. There would be no computers as the autism gene is responsible for the invention of this device which has likely revolutionized the world more than anything else. She goes so far to state that if it were not for the autism gene, there would be no scientists and we would all be cavemen. It seems that autism is responsible for every invention from the spear, to the cellphone.

A recent article in Wired magazine suggests a link between increased autism prevalence in the silicone valley and advances in computer software, hardware, chip design etc. The question is could corporations like Intel and Microsoft have existed without the autism genes? After all many people believe Mr. Gates himself to be on the spectrum.

Would the space program have existed without autism? Would we have been able to put Neil Armstrong, Buzz Aldrin and others on the moon? In fact Grandin has called NASA the largest sheltered workshop in the world.

Psychologist Simon-Baron Cohen has done a study suggesting that engineers are twice as likely to have an autistic offspring than someone in the general population.

Grandin states that though persons with schizophrenia and autism are not likely to have children, these conditions have still remained in the gene pool and are just as prevalent if not more prevalent than they were in the past. Her explanation is that the genes in these conditions have an evolutionary advantage that has prevented them from being expunged in spite of the lack of reproduction of those afflicted. Baron-Cohen, in an essay suggesting that autism, at least in its high functioning forms, should not be considered a disability, presents a similar argument.

There is also a movement afoot referred to as neurodiversity. Its proponents’ core beliefs are that autism is not a disability but rather a different way of being. The only reason autistics cannot function in society is due to the lack of acceptance and if accommodations are made there is no need for a cure. From their viewpoint, a cure for autism would equal genocide. Some who subscribe to this notion go so far as to say that autism confers certain advantages upon those who have it. One autistic individual has even gone so far as to say that autism equals genius and greatness.

Does this mean that autism should not be cured? Should the genes that produce autism just be left alone so that mankind can continue its betterment? If these people are correct, someday a scientist with a smattering of autism genes may cure cancer, discover a way to produce cheap energy, ending our dependency on foreign oil and make high gasoline prices a thing of the past. These same genes might be responsible for predicting the weather and earthquakes and possibly ending pollution. Who knows what technological advances could be made if persons like me would just grin and bear it. It is up to me and persons born in future generations to pay the price. These genes must be kept in the gene pool at any cost.

How valid are these arguments? There is evidence that certain genetic diseases have stayed within the population because they provided protection against other diseases or helped an individual better adapt to their environment.. One example is sickle cell anemia which gave its recepients protection against malaria. Hemachromatosis, which stayed in the population to protect those who had iron deficient diets, is another example. Is there research in the genetics of autism that gives them credence?

A variety of genetic conditions have been associated with autism. One of the best known of these is Fragile X. In this condition there is a defect in the FMR1 gene on the X chromosome that results in mental impairment, often with autistic type symptoms. It is possible that Fragile X is the responsible culprit in as many as 6% of children with an autism diagnosis.

Another genetic condition linked to the X chromosome in which autistic behaviors are manifested is Rett syndrome. It is caused by a mutation of the MECP2 gene. Another X-linked mutation that has been found in association with autism is the encoding of neuroligins.

Is the autistic phenotype solely an X-linked phenomenon? Tuberous sclerosis which is carried by one autosomal dominant gene can also cause a person to become autistic. There are also genes located on chromosome 15 resulting in Prader-Willi syndrome and Angleman syndrome which often result in those individuals receiving an autism diagnosis. DiGeorge syndrome, a disease resulting from a mutation in a gene on chromosome 22, has also been implicated in autism. There is also research implicating genes on chromosome 7 in autism’s etiology.

Is it conceivable that so many different genes on so many different chromosomes could have some sort of benefit or stayed in the population due to a protective effect? Somehow that contention seems farfetched. Of course, there are likely many forms of autism in which the gene or genes that are playing a role are not known. Evidence from family studies suggests that many forms of autism don’t follow the laws of Mendelian inheritance, i.e, they involve many genes and not just one autosomal recessive or dominant gene. This is due to the fact that studies have shown that if one child is affected there is a 3 to 6% chance a sibling will be autistic. While this is still much higher than the percentage of the general population would be if autism were solely due to autosomal dominant or recessive genes the probability of an autistic’s sibling having autism would be 50% and 25% respectively. This suggests that many forms of autism are due to the inheritance of many different genes interacting with each other. How does the omniscient Grandin know which of these genes are responsible for the invention of the computer and other advances? How can we say one of these genes stays in the population and the others don’t?

One possibility to consider is that autism may occur more frequently in certain ethnic groups due to inbreeding. Perhaps it occurs more frequently in certain ethnic groups who might be more likely to enter engineering and science related professions. In this case it would explain why scientists and engineers are more prevalent among parents of autistic children. Correlation would not mean causation. If the gene or genes involving autism are necessary for one to become an engineer, computer programmer, physicist etc. then how do Grandin and the others explain my brother-in-law who is a Ph.D. physicist. His brother and his father are both physicists also. As far as I know, there is no history of autism in their family. Neither of my nephews is autistic.

Kaye Redfield Jamison and others have shown that there seems to be a relationship between creativity and various psychiatric disorders. It is likely that Van Gogh had some sort of neurobehavioral disorder and this contributed to his genius in art. Dostoevsky had epilepsy and other possible neurologic issues and that may have well contributed to his greatness. Some well known writers suffered from depression and committed suicide such as Ernest Hemingway and Sylvia Plath. Even if the genes for this disorder in some cases contribute to prodigious creativity are these genes mandatory for this process? One can look to the many writers with no history of depression such as Faulkner, Dreiser or Rudyard Kipling. There is no proof that the elimination of these genes would forever stifle and silence creativity and great works of art.

One of the holes in Grandin’s and Baron-Cohen’s evolutionary advantage argument is that genetic disorders can arise from De Novo (or new) mutations. It is possible that some of the genes responsible for the types of autism caused by multiplex inheritance have spontaneously mutated in carriers but a greater combination of them would have to be necessary in both parents to produce an autistic offspring. Recent research done in Israel showing that the probability of having an autistic offspring increases in relation to the age of a father seems to bear out this contention-at least this was one of the explanations offered from the study.

Society needs creativity from art for our greater enrichment for both entertainment and intellectual reasons. Scientific progress that has made our lives better has progressed since the beginning of civilization. I also believe that autism and other disorders cause so much pain and suffering to those afflicted that scientific research should be done to help mitigate that suffering. It seems based on the fact that various studies have shown autism to be about the most heritable of the psychiatric disorders, research into genetics seems to be the most promising way of accomplishing this goal. I believe that these three goals can be mutually exclusive and can be accomplished simultaneously.