Abstract
Objective
This review sought to provide a better understanding of the factors that contribute to social functioning outcomes in individuals with these RASopathies (i.e., genetic syndromes caused by disruption to the RAS-MAPK cellular signaling pathway).
Data Selection
A systematic literature search in the PubMed electronic database yielded 462 articles on social functioning in individuals with RASopathies. An additional five articles were identified through hand searches. Two researchers reviewed each article abstract, resulting in 58 full-text articles to be assessed for eligibility. Thirty-one articles met full criteria for inclusion in the review. For inclusion, studies were required to include at least three participants with a common RASopathy and had to examine the relationship between an aspect of social functioning and a factor that might influence social functioning.
Data Synthesis
The 31 articles meeting inclusion criteria were classified based on the predictors studied. Components examined during full review included: the syndrome(s) studied, participants, the aspect of social functioning assessed, the factor(s) studied in relation to social functioning, study measures, and key findings and limitations. Predictor variables were classified into the following categories: cognitive, affective, communicative, medical, and environmental.
Conclusions
Individuals with RASopathies are at higher risk of social functioning deficits. The majority of studies examined social functioning in NF1. Though a number of neuropsychological, medical, and environmental risk factors correlate with social deficits in this population, the majority of research has focused on cognitive and affective predictors. Symptoms of attention deficit-hyperactivity disorder and social processing difficulties had the most evidence as predictors of social outcomes.