Behavioral Profile in RASopathies

Behavioral functioning in the RASopathies has been the focus of much recent interest and research. The RASopathies share many phenotypic characteristics due to the common mechanisms of RAS/MAPK pathway dysregulation, but there are also differences specific to each group. In this chapter, we first review current behavioral findings in Neurofibromatosis Type 1, Legius syndrome, Noonan syndrome, Costello syndrome, and Cardio-facio-cutaneous syndrome, and then look across groups at commonalities and differences. While there is substantial heterogeneity both within and across groups, some broad generalities emerge. The social profile is frequently characterized by a tendency toward socially desirable behaviors in a context of deficits in social and communication skills. ADHD, anxiety, and mood dysregulation are highly prevalent and likely interact with each other and impact social functioning. Differences emerge in the context of the specific physical, medical, cognitive, psychological, and social correlates of each condition. Understanding the complex interplay between these different variables is key to understanding an individual’s disease impact and is a core component of an effective multidisciplinary approach to their care.