Awareness of genetic testing for children with autism spectrum disorder among caregivers in an autism support group
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ORIGINAL ARTICLE
Awareness of genetic testing for children with autism spectrum disorder among caregivers in an autism support group Aaron Zebolsky 1
&
Duncan Vos 2
&
Neelkamal Soares 3
Received: 20 November 2019 / Accepted: 20 May 2020 # Springer-Verlag GmbH Germany, part of Springer Nature 2020
Abstract Recent discoveries have improved our understanding of the complex genetic mechanisms underlying autism spectrum disorder (ASD). Despite current guidelines, genetic testing for children with ASD is largely underutilized. This has been attributed to a lack of public awareness regarding genetic testing. The role that autism support groups play in this awareness has not been previously described. A web-based survey was developed and distributed through a community support group to assess the awareness and utilization of genetic testing among caregivers for children with ASD. A total of 138 caregivers responded in total. Only 53.6% were aware that genetic testing exists for ASD. Genetic testing was completed in 17.4% of respondents. Rates of awareness were similar across demographic factors including race, family income, education level, and urban, suburban, or rural residence. This supports low awareness as a key factor in the underutilization of genetic testing for ASD, even among members in an organized autism support group. Targeting public awareness through these organizations may be a promising approach for improving the utilization of genetic testing in ASD. Keywords Autism spectrum disorder . Support group . Awareness . Community . Genetic testing
Introduction Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social communication along with restricted, repetitive patterns of behavior, interests, or activities (American Psychiatric Association 2013). The reported prevalence of ASD has continued to increase in recent years, with current estimates now 1 in 54 children in the United States (US) (Maenner et al. 2020). A variety of environmental, genetic, and epigenetic factors contribute to the development of ASD. De novo * Aaron Zebolsky [email protected] 1
Western Michigan University Homer Stryker M.D. School of Medicine, 300 Portage Street, Kalamazoo, MI 49007, USA
2
Division of Epidemiology and Biostatistics, Western Michigan University Homer Stryker M.D. School of Medicine, Kalamazoo, MI 49007, USA
3
Division of Developmental-Behavioral Pediatrics, Department of Pediatric and Adolescent Medicine, Western Michigan University Homer Stryker M.D. School of Medicine, Kalamazoo, MI 49007, USA
and inherited variants in over 700 genes have been associated with the condition (Saxena and Chahrour 2017). These molecular mechanisms are diverse, varying from single-gene mutations to copy-number variants on nearly every chromosome (Huguet et al. 2013). The increasing accessibility of genetic testing in the form of chromosomal microarray (CMA) and next-generation sequencing has improved the clinician’s ability to detect these variants. Genetic testing is now
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