Cardiofaciocutaneous (CFC) syndrome

What is Cardiofaciocutaneous Syndrome (CFC)?

Cardiofaciocutaneous syndrome (CFC), a rare RASopathy, is characterized by anomalies in the heart (cardio-), face (facio-) and skin (-cutaneous), as well as other bodily systems. Neurological impairments (e.g., hypotonia, seizures, macrocephaly) are common in CFC syndrome, as well as intellectual disability. Four different genes have been found to be associated with CFC (BRAF, MEK1, MEK2, and KRAS). The large majority of individuals with CFC (80-90%) have a mutation in the BRAFgene. Some of our past research on adaptive behavior in the RASopathies has included data pertaining to individuals with CFC syndrome.

Cardiofaciocutaneous Syndrome (CFC) Research

There is a great need to better characterize the range of neuropsychological and behavioral functioning in CFC syndrome. In particular, little is know regarding social and emotional skills and challenges. In collaboration with Melinda Wolford at Youngstown State University, Dr. Pierpont recently conducted a study to investigate risk and protective factors that contribute to behavioral outcomes in this population. This study found that behavioral concerns in children with CFC, such as problems with focus/attention, withdrawn behaviors, aggressive behaviors or symptoms of anxiety, were highly related to problems with sensory modulation. In other words, children with CFC may engage in a number of behaviors to fulfill a sensory need or to avoid certain sensations that are overwhelming to them. This study also examined the relationship between behavioral and communication challenges and caregiver stress/well-being. Our results support a need for interventions to help families address functional communication barriers and concerns related to behavioral health.