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Andrea Guevara

Autism Spectrum Disorder


 
 
 

Outline

 

Introduction


Autism Spectrum Disorder is a neurodevelopmental condition that affects the brain mainly, and it occurs in approximately 1 out of 54 children. It is caused by a variety of symptoms that include: Difficulty communication, repetitive behaviors or interests, delayed development.



Signs of Autism

According to the CDC, some specific characteristics of difficulty communication can include: Avoiding eye contact, lack of responding, lack of facial expressions, or having a hard time understanding others feelings.


As for more characteristics for repetitive behaviors and having specific interest, this can include: repeating words, playing with toys in the same manner, obsessive interests like a certain routine, flapping hands, or focused on specific parts of something. These are major signs of ASD, but other aspects that might be related also include: delayed cognitive or learning abilities, unusual eating habits, anxiety, unusual emotion reactions.


Causes

The exact cause of Autism is still not fully understood, but there has been genetic and environmental research done that has related to autism.


The National Institute of Environmental Health Science (NIEHS) has actually done research to find correlations with the environment with autism spectrum disorder. Some aspects from the environment that has been researched by the NIEHS include:

  1. Air Pollution


It has been found that there is a correlation with air pollution, which is found mainly in areas such as places near the freeway to pregnant mothers. These pregnant mothers are twice as likely to have children with ASD.


2. Pre-mental and maternation factors


Research has found that pregnancies that have a mother with immune problems, metabolic problems, or even a fever are at higher risk to have children with ASD. If there are immune problems, the antibodies from the mother could affect the child's brain development. As for metabolic problems, it has been found that diabetes or obesity can increase ASD. Lastly, if there is inflammation such as a fever it is linked to ASD.


3. Contamination

Research has found that contaminates such as metals like mercury, zinc, magese, lead, and arsenic, or even pesticides are correlated with ASD. There have been lots of studies done by the NIESH.


For instance, a study was done in the Republic of Seychelles, where there is a high fish consumption which means that a lot of people who consume it have higher levels of mercury. The study found that there was actually no association with ASD and mercury.


Even after making adjustments to the mercury sources, children with ASD still had the same levels of mercury as children without the condition.


However, there was also another study done on twins to find a correlation with ASD and lead, manganese, and zinc. The ASD children of the study had low levels of zinc and manganese, but they had high levels of lead.


In addition, as for insecticides, it was found that pregnancies exposed to this actually had a high risk of their children having ASD. For instance, there has been a study done by the University of California, Los Angeles (UCLA), that studied the most common pesticides in California with 3,00 kids with autism that were born in 1998-2010 - this was summarized by WebMD.


Study conclusion: The study found that women that were about 2,000 meters away from a pesticide area had a higher risk of having children diagnosed with ASD by 10-16%. Having exposure to pesticides within the first year of life increases ASD risk by 50% (BMJ study).


4. Nutrition

Research has been done on pregnant women who took prenatal vitamins, and it was found that they are likely to have a child with ASD the mother before and first month of pregnancy as opposed to women who did not take the prenatal vitamins. Comparing the first month of pregnancy to women who confirmed folic acid and those that did not, the pregnant women who consumed it had low risk of child with ASD. In addition, taking multivitamin can lower the risk of ASD and intellectual disability.

Source: VaccineEvidence.com
 

Genetic Component to Autism Spectrum Disorder


Another component to ASD can also be genetic, some others study finds. There are about 1,000 genes that have been found to be associated with ASD, mentioned by MedicinePlus, but not all have been studied to fully understand the specific and the degree to the relations it has to ASD. These genes that may have correlation with ASD are all involved in the development of the brain.


Rare mutations that have been associated with ASD include: ARID1B, ASH1L, CHD2, CHD8, DYRK1A, POGZ, SHANK3, and SYNGAP1. ASD individuals with these genes are a result of a mutation, and when present, it is a strong indicator that the gene has led to ASD.


There has also been another gene, ACTL6, and studies have shown that it is related to ASD, epilepsy, and intellectual disabilities. This gene is inherited and recessive, and plays a crucial role in the brain as it encodes for BAF, which is a protein that tightens and loosen chromatin, as mentioned by Peter Hess in “Study links gene to inherited form of Autism.”


Although, a most recent study done by PubMed performed research on the genetics of Autism, and have found that there is a strong correlation with the 7q31-q33 to be a gene that is strongly associated with affecting the speech and language of ASD. The 15q11-q13 gene is most associated with cytogenetic abnormalities (changes in chromosome). As one can see, there have been several genes studied, and prove to have some relation to ASD, but not one specific gene is known currently to be the cause of ASD.


 

How is ASD diagnosed?

Symptoms commonly appear at a young age, and when the symptoms are found, there is further testing done to determine if it is ASD.


First, there is developmental monitoring which observes the child on developmental milestones, playing learning, speaking, behaviors, and movement. Parents or caregivers can also become involved in this process by telling the medical professionals about their child’s milestones for example.


Then, there is also developmental screening which analyzes the child’s development by giving them a questionnaire test - these questionnaires are questions about the child’s development essentially such as behavior, emotions, or movement. After these screenings, and if there is an indication of ASD, a specialist will perform a developmental evaluation which is when the child is given more testing, parents are asked more questions, and more evaluations are done in order to determine if the child has ASD and will have to receive special treatment.


 

Treatments

Treatment can vary as there are several ways that one can manage ASD, but therapy and medication are the most commonly used.

Application Behavior Analysis: To help with behavior and communication treatment, there is the Application Behavior Analysis (ABA) that can be used by schools and clinics, to help ASD patients learn positive behaviors. Within ABA< here is Discrete trial training (DTT) that uses simple lessons and positive reinforcement. There is also Pivotal Response training that enforces communication learning.

Verbal Behavior Intervention: There is also Verbal Behavior Intervention (VBI) that focuses on language skills. In addition, there are also developmental and relation based approaches (DIR), which are essentially floor time to get ASD patients to play and get involved with activities, and the goal is to help with communication and emotion.

Picture Exchange Communication System: Another form of treatment is the Picture Exchange Communication System (PECS) that is a visual practice that uses picture cards, and the patients are asked questions, and are encouraged to communicate with the visuals. These forms of therapy have been mentioned by WebmD.

For the medication part, it is not commonly given to treat ASD directly, but more of the other symptoms that come with it. For instance, some ASD patients have depression seizures, insomnia, or trouble focusing, and medications can help manage those symptoms, as mentioned by WebmD. It [WebmD] also mentions that there is only one approved medication, known as Risperidone, specifically for ASD patients, and is given to help with irritability for ages 5 to 16 years old.


 

Sources

“Autism.” National Institute of Environmental Health Sciences, U.S. Department of Health and Human Services, www.niehs.nih.gov/health/topics/conditions/autism/index.cfm


“The Environment Influences Brain Development, Experts Say (Environmental Factor, March 2020).” National Institute of Environmental Health Sciences, U.S. Department of Health and Human Services, factor.niehs.nih.gov/2020/3/science-highlights/brain-development/index.htm.


“Signs and Symptoms of Autism Spectrum Disorders.” Centers for Disease Control and Prevention, Centers for Disease Control and Prevention, 29 Mar. 2021, www.cdc.gov/ncbddd/autism/signs.h


I;, Muhle R;Trentacoste SV;Rapin. “The Genetics of Autism.” Pediatrics, U.S. National Library of Medicine, pubmed.ncbi.nlm.nih.gov/151219



 

 

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