Ethical Standards in Autism Studies, Essay Example

While there is no known specific gene that has been identified by science as a unique cause for the onset of autism, many studies have shown evidence through biological blood lines that autism may carry a genetic trait that can be passed down to off spring.

The entire DNA in a person forms its genome. Within the genome there are two parts: exons, which are genes which carry information to build proteins, and introns, which do not encode proteins and initially was considered to be thought of as junk DNA, not worth for anything. Now introns are generally known to be essential control areas. The set of exons is called exomes and is only a 1.5 % of the total genome. (Ebert 2013)

A mutation is a change in the DNA sequence, such as a typo in a book. Coding means that it appears in an exon, in the area that encodes proteins. De novo means that it is new, which is identified in a person and is not present in somatic cells (typical) of the parents, but can appear in the gametes, the sperm of the father, for example. To find out if a mutation is de novo, sequencing of the genome of the father, mother and son with autism must be done as part of the methodology. Distinguishing the mutations that have risen in de novo in the child can be seen because they do not have parents and therefore do not inherit autism. (Ebert 2013)

There are genetic traits and other diseases that have nothing to do with genes. And within the genetics, there are those that have a specific location, usually a certain gene that is damaged and in other cases, is diffused. Genetics appear in many gene mutations where none of which is capable of causing the autism disease alone. This seems to be the case of autism, which may have problems with the variations in the number of copies that are involved in the emergence of the disorder. (Ebert 2013) (McMahon 2006)

Another problem is whether a mutation in a person with autism has anything to do with autism or not. The solution is the sequencing of the DNA of a sample of people both with and without autism to see if there is a common denominator as well as if anyone in the sample population with autism have a mutations in a gene determined to be that common denominator; this rarely happens in people without autism. (McMahon 2006)

There was already evidence that the de novo mutations had to do with the fact that genetics appeared in autism based on previous studies. Firstly, de novo variations in the number of copies (usually by a piece of chromosome is lost or duplicated) appear in 8% of persons with autism as compared to only 2% in the control group. Second, the risk of autism is greater, increasing the age of the father, something which is linked to the accumulation of mutations in cells that will give rise to sperm cells. Four genes showed more frequent mutations in people with autism than in people without autism. These four genes were (S-C-N-2A), (N-T-N-G1), (K-A-T-N-A-L2), and (C-H-D8) all of which seem to be a key in the development of the pathology of autism. (Ebert 2013)

People with autism show difficulties to communicate and interact with others. However, some aspects of intelligence remain preserved or even increased in some subjects. Recently, an international team has found that a genetic variation that increases the risk of autism is associated with better cognitive capacity in non-autistic individuals. Some people with autism are nonverbal intelligence equal to or even higher than the average. This is a type of intelligence that enables us to solve complex problems using visual skills and reasoning that require little or no use of the spoken language. The assumptions of the autism genes reveal a certain advantage in the cognitive abilities of the people who do not have the disorder. (Ebert 2013) (McMahon 2006)

In the study of the role that genetics plays in those diagnosed with autism, there may exist ethical issues in the methodology. At the time that some parents are beginning to observe certain anomalous behaviors in a child arises many doubts about if is due to the scope, the cause, the possible solutions, the possible involvement in other children as they can reach or that, being already born, still have not expressed any abnormal behavior, etc. The genetic study seeks to (McMahon 2006)

While the preferred methodology of conducting a study of the role that genetics plays in autism will vary from one scientist to another, it is always important to disclose the methodology along with the details of how it was executed so that other researchers can be aware of how the results were found. This gives them the opportunity to cross examine the results of a particular study with their own studies and helps to alleviate the conflict of ethical issues. (McMahon 2006)

Bibliography

Ebert, D. H., and M. E. Greenberg. “Activity-dependent neuronal signalling and autism spectrum disorder.” Nature 493, no. 7432 (2013): 327-337.

McMahon, William M., Bonnie Jeanne Baty, and Jeffrey Botkin. “Genetic counseling and ethical issues for autism.” In American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol. 142, no. 1, pp. 52-57. Wiley Subscription Services, Inc., A Wiley Company, 2006.