Autism: A Disease or a Variant of the Norm

In this research project, I am going to research if autism is either a disease or a variant of the norm. I personally know someone who has autism and have direct contact with them a lot, this made me question myself more and more about, what it involves. Due to the lack of results from the many types of research taking place to know more about it, I decided to combine the information that has been successfully published to reach a conclusion to my question. In this essay, I will be researching what a disease is and its various characteristics to gain an understanding of if autism could potentially be classified as one. Also, will explain the many norms expected of the individuals in our society and if autism just goes against it.

As Jackie Leach Scully (who is a Senior Research Fellow at the Unit for Ethics in the Biosciences, University of Basel, Switzerland, and the Policy, Ethics and Life Sciences Research Institute at the Centre for Life, Newcastle, England), has suggested in his famous article called “ What is a disease?” at first sight it is straightforward to give a definition of what a disease is but as you look through medical articles and dictionaries it is clear that it becomes more difficult to convey what a disease really is. Throughout these years the perception of what a disease is has changed completely over time, as due to greater research and medical advancements what counts as disease depends on its significance on health because of a change in the individual’s analytical and physical abilities. In addition, it’s also dependent on its impact on the individual: mentally.

To gain a better understanding of what a disease is, I researched the many definitions of disease from different sources (both medical and non-medical). These are some of my findings. The Cambridge Dictionary has suggested that disease is (an) illness of people, animals, plants, etc., caused by infection or failure of health rather than by an accident. However, in contrast, it is defined as an impairment of the normal state of the living animal or plant body or one of its parts that interrupts or modifies the performance of the vital functions, is typically manifested by distinguishing signs and symptoms, and is a response to environmental factors (as malnutrition, industrial hazards, or climate), to specific infective agents (as worms, bacteria, or viruses), to inherent defects of the organism (as genetic anomalies), or to combinations of these factors. Through my research, I became conscious of a common detail in all the definitions of a disease. The focal point in all the definitions of a disease conveys the perception that it’s a “disorder” or an abnormal condition that affect or disrupts the functioning of the mind and the body. However, considering that there are many factors that can affect the functioning of the mind and the body; it very difficult be able to articulate what disease really is, therefore it’s vital to understand the characteristics of a disease. The following are the main common characteristic of diseases:

• It is caused by either environmental factors, a defect in the many systems that work in an organism or by infective agents.
• It has symptoms that either remains the same or progress and worsen which interfere with simple day to day activities and routines.
• Mostly treated or its symptoms are alleviated through therapy or medication.
• Most of the times it cannot be cured.

Autism is a complex neurobehavioral condition that causes abnormalities in social development, communication, and obsessive interests. Autism could be classified as a disease because it shares a common characteristic of diseases. This is evident through how this condition arises. This is because, despite a real concrete conclusion not being reached yet by scientists about the real cause of autism, intensive research has proven that the autism is very likely to be a result of genetic factors. It is rather unclear if autism is explained more by rare mutations or by multigene interactions of genetic variants. This is due to the intricacies of the genetics of autism, resulting from the interactions among several genes that influence gene expression.

Early studies have also proven genetics to be a reason for the autism condition as it is mentioned “early studies of twins had estimated heritability to be over 90%, meaning that genetics explains over 90% of whether a child will develop autism” (Freitag CM. The genetics of autistic disorders and its clinical relevance: a review of the literature, 2007;12(1):2–22). Indeed, recent studies have shown that heritability is 0.7 for autism and siblings of those who have autism are about 25 times more likely to be autistic.

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However, despite the heritability of autism being its key cause, most cases autism that occur do not show any association with family history. There has been a hypothesis that de novo mutations (which is a gene alteration caused by a mutation in a germ cell of one of the parents or in the fertilized egg) are mutations that in the father’s sperm or mother’s egg increase the chances of developing autism. Copy number variation (CNV) is a type of variation in which involves the duplication or deletion of base pairs in the genome. Though the development of DNA microarrays (a collection of microscopic DNAs attached to a solid surface) technologies, scientist have been able to detect CNVs in the human genome. Through this technology, it has been proved that mutations are also a major cause of autism. This is apparent through the significantly higher rate of de novo CNV’s arising in cases of autism relative to the typically developing siblings. In addition, a series of studies have shown that gene disrupting de novo CNVs occur approximately four times more frequently in ASD than in controls and contribute to approximately 5–10% of cases. Also, structural variants in individuals with autism are much larger and four times more likely to disrupt genes ('Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders' June 2011).

Another reason why autism could be classified as a disease is because of the symptoms that cause. An example is social impairments which a disengagement from and lack of involvement in relations with people. This means that they lack the intuitions which all neurotypicals have. This means the people with autism lack the essential skills to relate to peers and adapt their social skills to the numerous demands of different social situations. This symptom is displayed very differently depending on age; this means toddlers will have less eye contact and will not have the ability to express themselves using movements such as pointing. However, three- to five-year-old children with autism are less able to display social understanding, they approach others spontaneously, they are unable to imitate and respond to emotions. Indeed, the autistic Temple Grandin noted her inability to understand the social communication of neurotypicals, as leaving her feeling 'like an anthropologist on Mars” (Sacks O, An Anthropologist on Mars: Seven Paradoxical Tales,1995).

Another example of a symptom is the inability to communicate as effectively as the other neurotypicals. About a third to a half of the individuals do not develop adequate speech to meet their daily communication needs. Their obstacles to communicating appropriately are evident from the first year of their life as there may be delayed babbling, lack of awareness. Later, through their growth, it is less probable that children with autism make requests or share experiences, however, they just repeat other’s words, and some don’t have any natural speech at all. Most children with autism tend to have difficulty with imaginative play and with developing symbols into the language as mentioned in (29 October 2014) 'The contribution of de novo coding mutations to autism spectrum disorder'. Another example of a symptom for autism is repetitive behavior. The following are some of the examples:

• Repetitive hand movements or body rocking. These are called stereotyped behaviours.
• Resistance to change. An example of how it could be evident is through the child’s persistent behavior in not allowing a toy to be moved or refusing to be interrupted.
• Sameness- this that the pattern of the child’s daily activities remains the same and unchanging. An example could be always eating the same menu. (47)

Another reason why autism can be classified as a disease is that every disease requires treatment to alleviate the symptoms of the disease and make them manageable or to treat it. In this case, for autism, there is currently no treatment, only medication and therapies are available. An example s therapy to increase language and communication skills. In addition, therapy is also used to improve attention, social skills, memory, and decrease problem behaviors. Medication is also used to benefit the individual as it also improves focus. An example of a drug is anti-anxiety or anti-psychotic medications.

A norm is descriptive of what people commonly do and has been accepted in our society as “correct” and “right”. It’s the guideline for behaviors that are agreed to on-upon expectations for a suitable way to conduct oneself. These effects and influences human interaction in practically every situation. Therefore, a variant of the norm is something that contradicts or doesn’t concord with what society believes is the “norm”. In this case of autism, an autistic individual is unable to adapt to the social norm of being able to interact with the other members of society, engage in relationships and to associate mental states to oneself or others. This means autism could be perceived as a variant of the norm.

In conclusion, autism is a disease because it cannot be cured, and it shares most of its characteristics with diseases in general as explained above, which include it being caused by a defect and the symptoms that it causes.