Navigating Health Services with Coexisting Genetic Conditions and Autism: The Impact of a Formal Autism Diagnosis on Access to Care
Abigayle Nafus
Co-Presenters: Individual Presentation
College: College of Health Professions and Human Services
Major: MS.GENTICOUNSLNG
Faculty Research Mentor: Pervola, Josie
Abstract:
Purpose: Many children with neurodevelopmental genetic conditions also meet clinical diagnostic criteria for autism spectrum disorder (ASD). As whole exome sequencing becomes the first-tier test recommendation for global developmental delay, more children are being diagnosed with their genetic condition prior to a clinical ASD diagnosis. Although the cooccurrence of ASD and genetic conditions is well studied, less is known about how dual diagnoses affect access to healthcare, educational services, and insurance coverage. This study explored parents’ experiences accessing services and insurance coverage for their children before and after receiving both an ASD and a neurodevelopmental genetic diagnosis. Methods: Participants were recruited through online support groups. Sixteen participants completed a mixed-methods survey, with 75% (n=12) reporting having a child with both a genetic diagnosis and ASD and 25% having a child with only an ASD diagnosis (n=4). The survey included quantitative and open-ended questions assessing perceived availability and accessibility of medical, therapeutic, educational, and insurance-covered services for children with a single genetic diagnosis compared to those with a dual diagnosis. Descriptive statistics were used to report median score values, and thematic coding was used to analyze open-ended responses. Conclusion: The results indicate that parents of children with a dual diagnosis of ASD and a genetic condition did not report any perceived change in accessibility for doctors, specialists or school services, but there was an increase in coverage of services by insurance. Consistently, participants noted that there was a lack of knowledge and education among healthcare providers regarding dual diagnoses. The results highlight additional areas of support that families require when experiencing a dual diagnosis. Significance: These results have implications for genetic counselors and other healthcare providers, suggesting the families may require additional support in accessing knowledgeable providers, appropriate therapies, and the emotional impact of a dual diagnosis.Keywords: Genetics, Autism spectrum disorder, Neurodevelopmental, Accessibility