A measurement of personality traits associated with rasopathy syndromes

The RASopathies are a category of genetically inherited disorders that involve mutations in the Ras/mitogen activated protein kinase pathway. Neurofibromatosis type 1 (NF1), Noonan syndrome, Costello syndrome, and Cardiofaciocutaneous (CFC) syndrome are among these, and the clinical phenotypes include physical dysmorphologies, growth problems, developmental delay, and elevated cancer risks. Specific personality traits in individuals with RASopathies have been noted by clinicians and research investigators, however no systematic study has been done to date that scientifically correlates these traits to establish personality phenotypes and no systematic comparisons have been conducted between the four syndromes. A modified version of the Big Five Questionnaire for Children by Barbaranelli et al. (2003) was administered to parents of children diagnosed with a RASopathy at the Third International Meeting on the Genetic Syndromes of the Ras/MAPK Pathway and at a Neurofibromatosis Symposium held at University of California-San Francisco. The results showed that as a group, the individuals diagnosed with a RASopathy differed significantly when compared to unaffected sibling Controls in personality traits measured, scoring lower on Agreeableness, Energy/Extraversion, Conscientiousness, Intellect/Openness, and higher on Emotional Instability. Sense of Humor was not significantly different between the two groups. There were also differences found within the individual RASopathy groups for each trait when compared to each other as well as the Control group. With a clearer definition of these personality traits and differences, parents, teachers, and clinicians can better diagnose, understand, and provide for these individuals. The results from this study could be used as a stepping stone to the possible identification and discovery of a genetic predisposition to certain personality traits.