Diseases and Disorders

The Genetic Correlations to Autism

Ali Bauer


Introduction

    Ranging from almost unnoticeable issues to severe disabilities, autism is a spectrum of disorders. An awkward child capable of solving advanced math problems in his head might receive the same diagnosis of autism as another child who cannot speak.  In the last twenty years, autism has been more frequently diagnosed {3}. Nearly one in every eighty-eight children are autistic, and the boy to girl ratio is four to one {3}. The cause for this disorder is somewhat unknown, but research suggests that genetics plays a greater role than previously thought {3}. In fact, genetics is thought to have a greater impact on this disorder than almost any other.

 

DNA Configuration Effects and  Autism

    The genome contains all the DNA in an organism.  Many cases of autism are linked to mutations that occur in the genome.  The exome, a portion of the genome that codes for proteins, is the site for most of the most influential mutations {3}.  Most mutations occur naturally and are non-threatening, but some can be harmful. In damaging mutations, the structure of a protein is changed, and if that protein is key in brain development, it may lead to neurological disorders such as autism.  These mutations can occur either by modifying a single DNA base or by changing the whole strand. DNA sequencing is very specific, so the slightest change can cause severe alterations to the organism [2].

    People commonly assume that a genetic disorder is always one that has been inherited but this is not always the case.  With autism, some mutations can be formed by combining multiple harmful genes from the parents. However, others may develop autism spontaneously without ever having inherited the mutation {3}.

    In total, there are about sixty-five genes that  contribute to autism {3}. These genes may be altered in many ways, often differing between individuals {2}.  More than one gene variation yields the condition. If an individual has a less important DNA base affected, highly functioning forms of autism might not be as obvious to identify as cases that are much more extreme, in which a more important or larger section of DNA is affected and symptoms will likely be more pronounced.  Generally, the more DNA that is altered, the more extreme the condition becomes. Some genes that may be altered in an autistic child are those that help neurons send signals to the brain, and those that keep DNA neatly packaged in the cell nucleus [2].

    To corroborate genetics’ impact on autism, if one identical twin has autism, the other twin has an eighty-eight percent chance of also having the disorder {3}. In fraternal twins, chances of autism are the same as in normal siblings; they have a one in eighty-eight chance each.  The reason that the risk is so high in identical twins is because they share almost all of their genes. Even though identical twins do not have the exact same DNA sequence, they do have many similarities that average siblings do not [2].

 

Health of the Parents is a Pivotal Factor in Developing Autism

    While many links to autism development come from genetic variations, studies show that environmental factors can play a role as well.   The health of the parents, both mentally and physically, is also linked to developing autism. If a child's mother is not well nourished and healthy, the child is at a much higher risk of being autistic {2}.  Medicines taken by the mother also have correlations to autism development [1]. In addition, parental age can also affect the health of the baby {2}. If the parents are over a certain age, their child is more likely to develop autism than a child produced from parents of average ages {2}. The paternal age is particularly influential in the manifestation of autism in young children [2].

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    Common symptoms of autism include communication challenges, abnormal sensitivity, and uncontrollable repetitive actions {1}.  In extreme cases, an autistic individual may not be able to speak or only be able to communicate minimally [3]. On the higher functioning side of the spectrum, individuals may have unusually high IQ scores. These individuals are very intelligent, but often struggle with social situations [4].

    This diagram shows a normal brain compared to one affected by autism.  As the diagram portrays, the typical brain contains only three main locations in which neurons are sent, while there are three extra locations in the autistic brain. These extra locations make it slower and harder for an autistic child to think and act appropriately {5}.

 

Treatments and Specialized Learning Systems

    Treatments such as therapies and meeting with a special multidisciplinary team (physician, speech-language pathologist, and an occupational therapist) are encouraged for children with autism {2}. Good qualities in a program are structured activities, well-defined learning objectives, progress evaluations, focus placed on social skills, speech, imagination, and daily living skills {2}. Such a program gives the individual opportunities to interact with autistic peers and includes parent and family involvement [3].

 

Drawing Conclusions

    From what is known about autism, finding a cure for the condition might prove difficult to accomplish. However, activities to lessen symptoms and awkwardness are as close to a solution as it seems possible in the near future. Studies are still being done, so more therapeutic activities will likely be identified as the causes and effects of autism are explored.


References


  1. “What is Childhood Disintegrative Disorder? Symptoms, Treatment & More.” AutisMag, 19 Oct. 2016, www.dealwithautism.com/childhood-disintegrative-disorder/.

  2. Lisa Jo Rudy | Reviewed by Joel Forman, MD. “8 Symptoms of Severe Autism.” Verywell, www.verywell.com/what-is-severe-autism-260044.www.medicinenet.com/alzheimers_disease_causes_stages_and_symptoms/article.htm.

  3. Chung, Wendy. “Autism - what we know (and what we don't know yet).” TED: Ideas worth spreading, www.ted.com/talks/wendy_chung_autism_what_we_know_and_what_we_don_t_know_yet.

  4. “How Is Autism Treated?” Autism Speaks, 24 July 2012, www.autismspeaks.org/what-autism/treatment.

  5. Karimi, Padideh, et al. “Environmental factors influencing the risk of autism.” Journal of Research in Medical Sciences : The Official Journal of Isfahan University of Medical Sciences, Medknow Publications & Media Pvt Ltd, 2017, www.ncbi.nlm.nih.gov/pmc/articles/PMC5377970/.

Ali Bauer

Ali Bauer


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