LIBERTY UNIVERSITY
COLLEGE OF ARTS AND SCIENCES
Article Review Assignment
Structural variants identified using non-Mendelian inheritance patterns advance the mechanistic
understanding of autism spectrum disorder
EDSP 367
Introduction to Autism Spectrum Disorders
By
Michelle Reynolds
L34778551
September 6, 2024
INTRODUCTION
In this article we will learn that autism is believed to be inherited in one genome study
that affected 680,000 families and five countries. It is estimated that it is 80% inherited but that
there are rare variants that can range from 6%-50%. It can be very difficult to detect all the
different structural variants of any of the neurotypical diseases but furthering the research can do
just that.
COMMUNICATION
Autism being a neurological and developmental disorder it is most often characterized by
the social impairment of the person. There have been such fast moving technological advances
and genetics that we are closer than ever in helping to identify ways in which to help those with
Autism Spectrum Disorder to communicate. In the brain of a person with Autism Spectrum
Disorder you will find a wide distribution of gray matter. This wide distribution can cause
deficits in communication and repetitive behaviors. Lack of communication reminds me of the
case of Aidan in our readings in our Chapter 4 assignment this week. Aidan is 16 but limited in
his speech to simple phrases.
BEHAVIOR
What are the effects of autism spectrum disorder on the brain and how does this affect
behavior? Those with autism are said to have smaller cell size, and increased density of the cells
in the hippocampus. An increased number of neurons are also said to be found. There have been
studies done on mice to show if they were given protein it would shrink down the size of the
hippocampus and also the size of the neurons. Often irritability, aggression, self injurious
behaviors such as hitting, scratching, biting, head banging and hair pulling accompany the
negative behaviors. In Chapter 5 in our reading this week, Enrique is a 3 year old male who likes
to slap himself in the head and has begun to slap his parents. He also does a lot of stemming. He
likes to hand flap, vocalize, and eye gazing.
SOCIAL SKILLS
How does autism spectrum disorder affect social skills? Typically people with autism
may avoid making eye contact. They are very routine based and use this as a way to self soothe.
This helps them self regulate. They tend to have less social motivation because they work better
independently because it causes less stress and pain for them. They also tend to not be able to
read social cues so this can cause further difficulty in interactions with strangers. They do want
to be social, they just don’t know how to go about it most times or get anxiety in doing so.
CLOSING
In this article we learned that boys are 4 times more likely to be identified with autism
than girls. It is estimated that 1 in 44 American children will be diagnosed. Autism is 80% due to
genetic factors. The research that was done in this article hopefully helps get an accurate
diagnosis based on genetics. If parents are given an accurate set of tools they will be better
equipped at providing the right plan of care or therapies. In closing, there are so many ways we
can better understand what we know about autism. Continuing research can help make the world
better for everyone. (537)
Boutot, E.A. (2016). Autism Spectrum Disorders (2nd ed.). Pearson Education (US)
https://libertyonline.vitalsource.com/books/9780133521573
Baio J, et al. Prevalence of autism spectrum disorder among children aged 8
years—autism and developmental disabilities monitoring network, 11 sites, United
States, 2014. MMWR Surveill. Summ. 2018;67:1–23. [ PMC free article ] [ PubMed ]
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Gaugler T, et al. Most genetic risk for autism resides with common variation. Nat. Genet.
2014;46:881–885. [ PMC free article ] [ PubMed ] [ Google Scholar ]
