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Genetics and Genomics

Theses and Dissertations

2023

Autism Spectrum Disorder

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Full-Text Articles in Life Sciences

Genetic Testing For Autism: The Autistic Adult Perspective, Thomas Scott Dent Apr 2023

Genetic Testing For Autism: The Autistic Adult Perspective, Thomas Scott Dent

Theses and Dissertations

Many professional medical organizations recommend some level of genetic testing as standard of care for those diagnosed with autism spectrum disorder. However, genetic testing related to the diagnosis of autism is seen as controversial by many in the autistic community. While opinions about genetic testing have been well-documented from the perspective of the parents of autistic children, our understanding of the autistic adult perspective remains limited. We implemented a descriptive, web-based survey of autistic adults to assess their awareness of, attitudes towards, and interests in genetic testing for autism (n = 145). Our data demonstrated that half of our participants …


Assessing The Gaps And Potential Solutions To Improve Access To Genetic Testing For Autistic Individuals, Nisha Dhiren Pandya Apr 2023

Assessing The Gaps And Potential Solutions To Improve Access To Genetic Testing For Autistic Individuals, Nisha Dhiren Pandya

Theses and Dissertations

The prevalence of Autism Spectrum Disorder (ASD) continues to increase. Numerous genetic syndromes increase the risk of ASD. Professional organizations have published guidelines on the genetic testing recommended for Autistic individuals. However, healthcare providers do not unanimously offer genetic testing or refer for a genetics evaluation. Notably, parents of Autistic individuals express interest in learning about genetic testing as an option for their children.

This study aimed to identify gaps to improve access to genetic evaluations for Autistic individuals and their families. A survey was sent to healthcare providers across the United States that currently see Autistic individuals. We expected …