The “FEEDS (FEeding Eating Deglutition Skills)” over Time Study in Cardiofaciocutaneous Syndrome

Feeding, eating and deglutition difficulties are key concerns in patients with cardiofaciocutaneous syndrome (CFCS). This study intends to quantify the development of feeding skills from birth adulthood CFCS. Twenty-seven (eight males; mean age: 16.7 ± 8.3 years; median 15 years, age range: 1.5–38 years) molecularly confirmed clinical diagnosis CFCS were prospectively recruited Rare Disease Unit, Paediatrics Department, Fondazione Policlinico Agostino Gemelli-IRCCS, Rome, Italy, over a one-year period. Pathogenic variants along information regarding oro-motor features collected. Sialorrhea was quantified using Drooling Quotient 5. Feeding abilities screened Italian version Montreal Children’s Hospital Scale (I-MCH-FS). The oral sensory processing section Sensory Profile completed assessment. Mild-to-profuse drooling experienced by 25% patients, food taste selectivity constant during infancy (65%), persistence even beyond adolescence. Nineteen percent participants long-term enteral dependency had BRAF, KRAS MAP2K1 mutations. These findings document that mealtime challenges do not remain restricted only paediatric age, supportive care until plays role.