Cognitive Development and Learning in RASopathies

The RASopathies are a group of genetic disorders that affect multiple organ systems and are caused by molecular genetic variants that dysregulate signaling along the Ras-mitogen-activated protein kinase (RAS/MAPK) pathway. Although cognitive and learning disabilities are observed to varying degrees across all RASopathies, significant gaps remain in our understanding of the mechanisms leading to differences in brain structure and function. Through review of existing research in the field, this chapter provides insight into the cognitive and learning profiles specific to each RASopathy and examines specific areas of challenge and resilience. The chapter draws upon studies of intellectual functioning and academic achievement while considering other pertinent neurodevelopmental domains such as communication, attention, motor coordination, and adaptive functioning. Established associations between RASopathy genotypes and cognitive outcomes are reviewed. Given the myriad medical complications observed in RASopathies, practical considerations for clinical care and educational support are offered. The chapter concludes with a discussion of results from clinical trials targeting relevant cognitive endpoints and suggestions for potential future research directions. The wide spectrum of cognitive and learning outcomes across RASopathies highlights the importance of developing personalized educational and intervention approaches.