Patient and Caregiver Perspectives on Neurodevelopmental and Mental Health Care for RASopathies

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Author(s)

Anne Floyd, Dante J Rogers, Betul Cakir Dilek, Jessica J Simacek, Rebekah Hudock PhD, Rene Pierpont

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Free

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A qualitative study to understand perspectives of caregivers and people with RASopathies on their mental health care needs and treatment experiences

New treatments are being developed and tested to address neurodevelopmental and mental health challenges of people with RASopathies, yet there is a lack of research exploring the patient experience when accessing existing treatments and perceived barriers to care. Our team conducted and analyzed a series of focus groups and interviews with caregivers and young adults with RASopathies. We asked about mental health concerns, treatment history, care accessibility, and ideas for treatment approaches to better meet their needs. Results identified a wide variety of mental health conditions and treatment strategies, with anxiety being a particularly frequent area of concern. Mental health conditions frequently interfaced with physical symptoms. Caregivers and individuals with RASopathies frequently struggled to access care, had adverse medication effects, or encountered providers with a lack of experience or knowledge of RASopathies. Advocacy from patients and their families was often needed to successfully address neurodevelopmental and mental health symptoms. Several themes emerged from these conversations, including needs for provider training in rare diseases, trauma-informed care, and improved community awareness regarding RASopathies. This study identified a set of actionable items to inform research, care delivery and advocacy that was informed by the perspectives of both caregivers and patients with RASopathies.

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Date

2026 

Type

Peer-Reviewed Article 

Publisher

SAGE Publications, Inc.