Function and disability in children with Costello syndrome and Cardiofaciocutaneous syndrome

Area of Science:

• Genetics and Developmental Biology
• Pediatric Medicine
• Rehabilitation Sciences

Background:

• RASopathies are a group of genetic disorders with limited research on functional outcomes.
• Costello syndrome (CS) and Cardiofaciocutaneous syndrome (CFCS) are distinct RASopathies with overlapping features.
• Understanding functional performance and disability is crucial for comprehensive care in these conditions.

Purpose of the Study:

• To compare the functional performance and disability levels between children with CS and CFCS.
• To identify specific areas of functional limitation and disability in these pediatric populations.
• To establish a baseline for future research and clinical interventions.

Main Methods:

• Utilized the Pediatric Outcomes Data Collection Instrument (PODCI) and Pediatric Evaluation of Disability Index (PEDI) questionnaires.
• Collected data from parents of children diagnosed with CS and CFCS.
• Compared scores between the CS and CFCS groups and with published normative data.

Main Results:

• No significant differences were found in PODCI or PEDI scores between the CS and CFCS groups.
• Both groups exhibited statistically significant functional limitations compared to normative data across multiple domains.
• Significant impairments were noted in mobility, social interaction, and daily activities for both CS and CFCS patients.

Conclusions:

• Costello syndrome and Cardiofaciocutaneous syndrome demonstrate comparable functional limitations and disability severity.
• Children with CS and CFCS experience substantial challenges in upper extremity function, transfers, mobility, and physical activities.
• These findings highlight the need for targeted support and interventions to address the functional deficits in individuals with CS and CFCS.