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Autism and its Causes: Is Autism a Genetic Cause?

Is Autism a Genetic Cause?

Kobe Mead

Professor Gloria Creed-Dikeogu

Research Techniques and Technologies: LAS 13525

February 25, 2017

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Autism and its Causes: Is Autism a Genetic Cause?

Abstract

The purpose of this paper is to explain and list the probable causes for the disorder of

autism. Autism is a neurological disability that develops in children (usually boys) that doesnt

allow the children to fully develop their communication, social and learning skills. There are

several options and opinions for what can be the cause of this disability, however, the purpose of

this research is to find if the cause is genetic related or not. Several people believe it could

possibly be behavioral; however, there are a lot of different sources and beliefs that it could be

biological. Yet, out of all the different biological causes, genetics seems to be the main cause.

Although it is not one hundred percent accurate, genetics seems to be the closest topic that seems

to be given more answers through different studies and tests. Therefore, it is important to learn

and understand how genetics is giving the closest answer by explaining its experiments and

results, such as the MSSNG study, the different studies in twins, and the different results given

from a specific gene in different kids. Eventually the paper will have some sort of debate

between whether or not its a biological cause or not. The purpose of the paper is to determine if

autism is a genetic/biological disease. Therefore, it should conclude in finding out what is the

real reason for autism, whether or not its biological or behavioral. Unfortunately, after reviewing

all of the different aspects and reasons, it is important to remember that there is no exact answer

determined for the cause of this disability.

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Autism and its Causes: Is Autism a Genetic Cause?

Introduction

Cynthia Macluskie thought she was living a normal life with her husband and only child

Mark. However, when Mark was close to turning three years old, he was diagnosed with medium

to severe autism. Even though Mark was at a districts preschool for developmentally delayed

children, he didnt seem to be doing as good as everyone else. Therefore, Cynthia decided it was

best to become a fulltime mother in order to help her child overcome this disease. Thankfully

after a few years of hard work and dedication, Mark did overcome autism. (Padawer, 2014)

However, according to an article in the New York Times, this is not the case for most kids with

autism. There are only a few kids who do overcome it, although, the cause for them overcoming

this disability is still unknown. The purpose of this paper is to realize the importance of knowing

and understanding what autism is and what are the probable causes of this disorder; which could

be either a biological cause, such as a specific gene, chemical imbalance, or a behavioral cause,

such as untreated phenylketonuria or caused during pregnancy.

What is Autism?

According to the Columbia Encyclopedia, Autism is a developmental disability resulting

from a neurological disorder that affects the normal functioning of the brain, characterized by the

abnormal development of communication skills, social skills, and reasoning. Some examples of

what these kids do is that they usually repeat the words they hear constantly, however, it is

sometimes hard to understand what they are saying due to the fact that their language skills

arent fully developed. This disorder is usually diagnosed in the early ages of a child,

approximately between 1 to 3 years of age since it is quite noticeable that there is something

wrong with their language and communication skills. Some of the symptoms are problems using

language, such as delay in understanding or responding to regular conversations in preschool.

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Autism and its Causes: Is Autism a Genetic Cause?

Some of the kids that are diagnosed with autism seem to have special talents in other areas, either

a specific subject or activity such as sport, or any sort of entertainment. This disability has been

seen in more boys than girls, however, the reason for that is still remains unknown as well.

Probable Causes for Autism

There is still an uncertain exact cause for this disorder. However, there seems to be

several probable causes for autism. Some of the causes could be genetic, rubella in the pregnant

mother, tuberous sclerosis, fragile x syndrome, encephalitis, or even environmental toxins.

(mychildwithoutlimits.org) Still, the biggest controversial is to determine if autism is either a

biological cause or a behavioral cause. There are several people who believe it is a behavioral

cause; however, it is more likely to be a biological due to the fact that there seems to be more

evidence in this area. There have been several studies and research in this area, such as the

MSSNG and others; therefore there is more proof and results that it could be a biological cause,

rather than a behavioral one.

Behavioral causes for autism

There seem to be several articles explaining how autism is caused by a behavioral factor.

An example of these causes could be if the mother had rubella during pregnancy. However, this

could not be possible due to the fact that all the mothers who had rubella during pregnancy

would have had children with autism, which is not the case. Not every child born in that scenario

has had autism. Another probable cause listed in the mychildwithoutlimits.org was an untreated

phenylketonuria, which is when the body lacks an enzyme needed for normal metabolism.

However, throughout the research there wasnt much information proving this to be an actual

cause due to the fact that autism is related to the brain rather than normal metabolism. Therefore,

autism is definitely considered to be a biological cause rather than a behavioral cause.

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Autism and its Causes: Is Autism a Genetic Cause?

Biological (genetic) causes for autism

It is believed autism can be a caused biologically, due to a specific gene, a chemical

imbalance, encephalitis (which is the inflammation of the brain), or maybe the lack of oxygen at

birth. According to an article in The Tech Museum of Innovation, the possible gene or

chromosome that may cause some symptoms for autism is in chromosome 3, contactin 4. This

program conducted a study in 92 people who had autism, and they came with the conclusion that

there was a change in this chromosome with three people in their study. This didnt mean that

they found the exact cause, but they believe it could be somehow related to this chromosome.

They also found out that the parents of these children had something different in the same

chromosome as well. However, the parents didnt have autism; they just passed down the gene to

their children.

Another different aspect found in that same experiment was that if parents already have a

child with autism, their probabilities of having another child with autism varies from 2% to 10%.

Eventually, if they have two children with autism, the probability of having another child with

autism increases to a 35% chance.(genetics.thetech.org) These are big numbers of probability for

children with autism. Therefore, if the probability is that high, this just proves that there must be

something genetically happening with the couple when procreating. Unfortunately, the exact

cause is still unknown.

Autism has also been a strong disorder in identical twins. It is stated that if one identical

twin has autism, then there is a 60 to 90% chances that the other twin will be diagnosed as well

(thetech.org). There was another study conducted in twins in the UK, and 56 to 95% estimated to

be a genetic cause, according to their 258 twins study (geneticliteracyproject.org). However,

since this doesnt happen to every single pair of identical twins, it is not safe to conclude that it is
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Autism and its Causes: Is Autism a Genetic Cause?

exactly a genetic problem in identical twins. In order to confirm that autism is genetic, there

would have to be more studies conducted that will provide with more proof, which could take

several years of research. Therefore, the closest information relating autism with genetics, is

finding that there is a change in chromosome 3 in contactin 4.

Arguments against/for

Another important and somewhat successful research is the MSSNG project. This project

is collaboration between Autism Speaks and Google (autismspeaks.org). This project was

designed by Tommy Hilfiger, who decided to name it MSSNG, which is an acronym for the

word missing. The reason why the vowels are missing in the word is to symbolize the missing

pieces of the autism brain or function.

The purpose of this project is to sequence the DNA of 10,000 families affected by autism

in order to find the cause for this disability. Geneticists Stephen Scherer and Ryan Yuen are

leading the study with many other scientists in the University of Toronto that already have done

six-hundred full sequenced genome which is the complete set of DNA including all of the genes.

Therefore, by finding this, they will be able to determine the exact cause, and possibly a cure for

the disease someday. They believe that by doing all of the sequencing, they will be able to find

any autism-linked gene in the father, mother, or child. A difference found in the mother and

father mutations was that autism seemed to be linked in the father when his age increases;

meaning that the older the father would get, the most likely he will have a child with autism.

Conclusion

Unfortunately, there wasnt much information proving that autism is a chemical

imbalance in the brain. Therefore, this couldnt be a cause for the disorder. As for the lack of

oxygen at birth, or hypoxia, might not be a probable cause in autism. Dr. Dawson, a pediatrician
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Autism and its Causes: Is Autism a Genetic Cause?

who answered the questions about birth complications in the autism speaks website, said This

strong suggestions that low oxygen levels contribute to autism risk needs to be explored in

further studies. It was stated that there is a low probability or maybe none at all in relating birth

complications with autism. Many people want to believe that autism is caused by a certain

complication while at birth, but several studies and many different articles stated that there is no

relationship whatsoever.

Even though autism is considered to be a brain disorder, there still isnt an actual and

exact cause for this disorder. There are plenty of studies from the past and present; however,

none of them seem to be 100% successful. Therefore, it is unfortunate to conclude that it is not a

genetic cause. However, out of all the trials and experiments, a genetic cause is somewhat close

to being the way to go in finding out more of the disorder. Consequently, there are several of

ongoing investigations to find the cause and to see if someday there will be an actual cure for it

as well.
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Autism and its Causes: Is Autism a Genetic Cause?

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