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Genetic testing and autism: Tutorial for communication sciences and disorders.

Laura S DeThorne1, Stephanie Ceman2

  • 1Department of Speech & Hearing Science, University of Illinois, 901 S. Sixth Street, Champaign, IL, 61820, United States.

Journal of Communication Disorders
|June 8, 2018
PubMed
Summary
This summary is machine-generated.

Genetic testing for autism reveals complex genetic and environmental factors, not single gene causes. Understanding parental views and autistic experiences is crucial for ethical genetic testing practices.

Keywords:
AutismDisability critiqueGenetic testingGeneticizationNeurodiversity

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Area of Science:

  • Genetics
  • Neurodevelopmental Disorders
  • Communication Sciences and Disorders

Background:

  • Genetic testing is increasingly used in medicine, including for autism spectrum disorder (ASD).
  • Disability critique highlights limitations and concerns surrounding genetic testing in medical practices.
  • Understanding the molecular basis and parental perceptions of genetic testing for autism is essential.

Purpose of the Study:

  • To provide an overview of the molecular basis of genetic variations associated with autism.
  • To explore parental perceptions, including benefits and harms, of genetic testing for autism.
  • To emphasize the integration of autistic individuals' perspectives in genetic testing discussions.

Main Methods:

  • Review of current literature on genetic variations and autism.
  • Analysis of different forms of genetic variation and their potential links to autism.
  • Examination of parental perceptions and ethical considerations regarding genetic testing.

Main Results:

  • Most autism cases result from complex interactions between multiple genetic and environmental factors, not single genetic variations.
  • Genetic testing can identify specific genetic variations in some individuals with autism, but it is not a universal explanation.
  • Parental perceptions of genetic testing for autism are varied, encompassing potential benefits and harms.

Conclusions:

  • Genetic testing for autism is complex, with most cases influenced by polygenic and environmental factors.
  • Integrating first-person perspectives from autistic individuals is critical for ethical and effective genetic testing practices.
  • Professionals in communication sciences and disorders need a comprehensive understanding of genetic testing in autism.