ACS EI+ASD Assessment of repetitive, challenging, sensory, and pain behavior among individuals with CFC syndrome
Project Description:
Background: Hallmark features of cardiofaciocutaneous syndrome (CFC) include developmental disability and seizures. The pathogenic variants that cause CFC are well researched and are critical for understanding the role of the RAS-MAPK signaling pathway on growth and development of various organ systems. However, the behavioral phenotype and the potential associated challenging, sensory, and pain behavior experienced by individuals with CFC has received considerably less attention. Given prior research recognizing that behavioral health concerns are one of the most widespread features of CFC, a focused investigation that helps to uncover the underlying sensory and neurological needs that perpetuate repetitive and challenging behaviors is needed to move toward effective treatment options.
Methods: Expanding on our teams CFC neurological database created in 2019-2020 (PI: Pierpont), we will distribute five surveys to caregivers of individuals with CFC on repetitive behavior, challenging behavior and function, and sensory and pain experiences. Demographics, genotypic information, and comorbid diagnoses will be analyzed in relation to the behavioral features assessed in this study.
Expected Outcomes: We aim to examine the repetitive, challenging, and sensory/pain experiences of individuals with CFC to evaluate the frequency, severity, and interference of these behaviors on quality of life. Improved understanding of behavioral features in a large cohort will provide information about which treatment and service modalities should be trialed in the next steps of our collaboration. For example, this study could lay the groundwork to examine the effectiveness of telehealth interventions for families demonstrating and expressing need for behavioral health support
