Patient and caregiver perspectives on neurodevelopmental and mental health care for RASopathies

Background: Clinical studies have begun to evaluate therapeutic approaches to address the widespread neurodevelopmental and mental health challenges associated with a group of genetic syndromes known as “RASopathies.” However, the perspectives of patients and families regarding the relevance and accessibility of such treatment approaches have not been studied. Objectives: To assess the mental healthcare needs and treatment experiences encountered by individuals with RASopathies and caregivers. Design: Directed content analysis of focus group and interview transcripts. Methods: We qualitatively analyzed data from four virtual focus groups comprised of caregivers (n = 21) of youth with RASopathies and a series of individual interviews with young adults (n = 11) with RASopathies. Perspectives on primary neurodevelopmental and mental health concerns, treatment history, and care accessibility were explored using a directed content analysis framework. Results: Consistent with prior research, participants reported that attention/executive functioning, mood, and social concerns were common; anxiety was a particularly frequent comorbidity. Mental health concerns varied across settings and frequently interfaced with physical health symptoms. Barriers to care included poor accessibility of services, adverse medication effects, and a lack of provider experience or knowledge. Addressing neurodevelopmental and mental health symptoms effectively often necessitates family resilience and advocacy on the part of patients and their caregivers. Emergent themes uncovered needs for provider training pertaining to rare diseases, trauma-informed care, and improved community awareness regarding RASopathies. Conclusion: This study identified a set of actionable items to inform research, care delivery, and advocacy that reflect the expressed needs and lived experiences of participants representing both caregivers and patients with RASopathies.