Encyclopedia of Autism Spectrum Disorders

Living Edition
| Editors: Fred R. Volkmar

Parent Perspectives Toward Biological Testing for Autism

  • Kayla Wagner
  • Steven D. HicksEmail author
Living reference work entry
DOI: https://doi.org/10.1007/978-1-4614-6435-8_102482-1



Autism spectrum disorder (ASD) has many known genetic risk factors (Carter and Scherer 2013). As part of the comprehensive evaluation process for idiopathic ASD, genetic testing is recommended by the American Academy of Pediatrics (AAP) guidelines (Johnson and Myers 2007). Yet the cause of ASD remains unknown. Gene-environment interactions are believed to be involved in the etiology of the disorder (Lai et al. 2014). This has prompted interest in the epigenetic signatures unique to children with ASD. Epigenetic factors regulate gene expression in response to both internal (cellular) and external environments, but do not modify the actual DNA sequence. There is potential for both genetic and epigenetic measurements to inform our biologic understanding of ASD and perhaps aid in ASD diagnosis.

Recent advances in biomedical research have demonstrated the potential for molecular testing to provide an early,...

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References and Readings

  1. Carter, M. T., & Scherer, S. W. (2013). Autism spectrum disorder in the genetics clinic: A review. Clinical Genetics, 83(5), 399–407.CrossRefGoogle Scholar
  2. Hicks, S. D., Rajan, A. T., Wagner, K. E., Barns, S., Carpenter, R. L., & Middleton, F. A. (2018). Validation of a salivary RNA test for childhood autism spectrum disorder. Frontiers in Genetics, 9, 534.CrossRefGoogle Scholar
  3. Hicks, S. D., Carpenter, R. L., Wagner, K. E., Pauley, R., Barros, M., Tierney-Aves, C., … & Middleton, F. A. (in press). Saliva MicroRNA differentiates children with autism from peers with typical and atypical development. Journal of the American Academy of Child & Adolescent PsychiatryGoogle Scholar
  4. Johnson, C. P., & Myers, S. M. (2007). Identification and evaluation of children with autism spectrum disorders. Pediatrics, 120(5), 1183–1215.CrossRefGoogle Scholar
  5. Lai, M. C., Lombardo, M. V., & Baron-Cohen, S. (2014). Autism. Lancet, 383(9920), 896–910.CrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2020

Authors and Affiliations

  1. 1.SUNY Upstate Medical UniversitySyracuseUSA
  2. 2.Penn State College of MedicineHersheyUSA