Genetics in Autism Revealed

By: Samantha Daniels

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What is Austin Spectrum Disorder?

Autism Spectrum Disorder (ASD) can be defined as a developmental disorder characterized by have difficulty with social interactions, language development, and is usually associated with a narrow range of repetitive behaviors and interests (Beery, 2015)

  • It is associated as a collection of symptoms
  • Prevalence is difficult to measure because of wide range of symptoms
  • Behaviors can be associated with Fragile X Syndrome
  • Genetically linked, with some teratogen exposure cases
Diagnosing autism spectrum disorder

The Basics

The genetics behind ASD as extremely multifactorial, with genetic associations linked to chromosomal abnormalities, copy number variants, and small deletions or duplications within the DNA sequence (Beery, T., 2015).

However, reasearch behind ASD is booming. With an abundance of financial funding, and patient and family involvement, research and its finding has improved substantially in respects to ASD. One very important research study included the Autism Genome Project, conducted in 2004 sampled almost 12,000 blood samples of families touched by Autism (National Autism Network, 2015). Multiple techniques were used, including microarray analysis, which helps determine where genes are located, and "linkage analysis", which helps correlate the sampled DNA affected with ASD, to DNA not affected with ASD (Farley, P., 2015). The use of whole-genome sequencing is also being used in order to identify the smallest of the small mutations within a DNA sequence.

Is Genetic Testing Worth it?

With the increase in research for ASD, there has been an increase push to genetically test children who may be at risk for ASD. Genetic testing was originally found to be approximately 16% effective through whole-genome sequencing, and microarray analysis (Carey, B., 2015). This was until the analysis of phenotypic features of children with ASD was developed. Not only are researching analyzing their genetic make up, but the phenotypic features associated with their appearance such as the creases in their palms could be an early sign of ASD (Thompson, D., 2015). With this secondary analysis tool, the rates of diagnosis of ASD has increased significantly.

Hard Work Pays Off

A significant increase in research, funding, and patient participation has lead to significant research findings concerning the area of Autism. "Risk regions" of the DNA sequence have been identified, where if a deletion or mutation occurs in this area of the DNA sequence, there is a high risk for the genetic development of ASD (Farley, P., 2015). "De novo" mutations are also being identified through these risk regions. "De novo" mutations are mutations within this risk regions that are spontaneously mutating, and not inherited through families. Sex discrimination identification was also found in de novo mutations, which confirmed that males are more vulnerable to ASD, but the reason is still unknown (Farley, P., 2015). Familial and sibling correlations were also demonstrated in this research, where it was found that 70% of sampled DNA that contained sibling who were also diagnosed with ASD, did not share the same mutations. Through microarray analysis in the Autism Genome Project, a gene called NRXN1 which is already associated with other developmental disorders such as Fragile X Syndrome, and tuberous sclerosis, was also associated to being a major factor in the development of ASD. Using whole-exon sequencing researchers were also able to evaluate the smallest mutations on a DNA, while themselves did not cause ASD, they then lead to other mutations in the DNA sequence which were then associated with ASD.
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How Does This Effect Nurses Today?

With the increase in genetic analysis of patients with ASD, the level of care which healthcare providers are going to be able to provide is going to increase significantly. Patients are going to be recognized as individuals despite their family history, or sibling correlation to ASD. Treatment plans are going to be developed more specifically to the building blocks of what makes them an individual. Genetic testing is not only revealing their linkage to a ASD diagnosis, but is also correlating other heath risks such as obesity and diabetes which is associated with their diagnosis (Carey, B., 2015). This will lead to an increase in preventative care for patients affected with ASD.

Family planning is also a consideration with the increase in genetic research of ASD. Families are going to be able to understand their risks and potential treatment plans for their future children. Know risks and options for their family will help put worried minds to ease, and will help in aiding for early intervention programs for patients with ASD.

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Carey, B. (2015, January 26). More Differences Than Similarities Are Found in Autistic Siblings. The New York Times. Retrieved from

Farley, P. (2015, September 28). New Autism Genes are Revealed in Largest-Ever Study. University of California, San Francisco. Retrieved from

Thompson, D. (2015, September 2). Genetic Test Offers New Clues to Autism. CBS News. Retrieved from

Autism Speaks: Genetics and Genomics. (2015, November 16) Retrieved from

Beery, T (2012). Genetics and Genomics in Nursing and Healthcare. Philadelphia: F.A. Davis Company