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Abstract Background The development of advanced genetic technologies has resulted in rapid identification of genetic etiologies of neurodevelopmental disorders (NDDs) and has transformed the classification and diagnosis of various NDDs. However, diagnostic genetics has far outpaced our ability to provide timely medical counseling, guidance, and care for patients with genetically defined NDDs. These patients and their caregivers present with an unmet need for care coordination across multiple domains including medical, developmental, and psychiatric care and for educational resources and guidance from care professionals. After a genetic diagnosis is made, families also face several barriers in access to informed diagnostic evaluations and medical support. Methods As part of Care and Research in Neurogenetics (CARING), a multidisciplinary clinical program for children and adults with neurogenetic disorders, we conducted qualitative clinical interviews about the diagnostic journey of families. This included the overall timeline to receiving diagnoses, experiences before and after diagnosis, barriers to care, and resources that helped them to navigate the diagnostic process. Results A total of 37 interviews were conducted with parents of children ages 16 months to 33 years. Several key themes were identified: (1) delays between initial caregiver observations and formal developmental or genetic diagnoses; (2) practical barriers to clinical evaluation and care, including long wait times for an appointment, lack of insurance coverage, availability of local evaluations, transportation difficulties, and native language differences; (3) the importance of being part of a patient advocacy group to help navigate the diagnostic journey; and (4) unique challenges faced by adults (18 years or older). Conclusions Families of children with complex neurodevelopmental and genetic disabilities face numerous challenges in finding adequate medical care and services for their child. They experience considerable delays in receiving timely diagnoses and face significant barriers that further delay the process of receiving access to services needed for the child’s continued care. The gaps indicated in this study speak to the need for more comprehensive coordination of care for patients with intellectual and developmental disabilities, as well as the development of systematic, disorder-specific resources both for providers and families in order to improve patient outcomes.

Children with autism spectrum disorder (ASD) participate at lower rates in their community, and their caregivers experience higher levels of stress, in comparison to families of typically developing (TD) children. The social model of disability positions the environment as the central issue when children with disabilities are unable to participate, yet little is known about the relationship between poor community support, reduced community participation in children with ASD, and caregiver stress. This study examined caregiver perceptions of community supportiveness for the community participation of 48 children with ASD (aged 5–12 years), alongside caregiver-reported child ASD symptom severity, adaptive functioning, and caregiver stress. Community supportiveness predicted child involvement, but not attendance, when child characteristics were held constant. Caregiver perceptions of low community supportiveness significantly predicted caregiver feelings of isolation. The importance of modifying community programs to better support inclusion of children with ASD is discussed.