Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.
Dipartimento Scienze della Vita e Sanità Pubblica, Facoltà di Medicina e Chirurgia, Università Cattolica del S. Cuore, 00168 Rome, Italy.
Genes (Basel). 2023 Jun 25;14(7):1338. doi: 10.3390/genes14071338.
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 to adulthood in patients with CFCS. Twenty-seven patients (eight males; mean age: 16.7 ± 8.3 years; median age: 15 years, age range: 1.5-38 years) with molecularly confirmed clinical diagnosis of CFCS were prospectively recruited from the Rare Disease Unit, Paediatrics Department, Fondazione Policlinico Agostino Gemelli-IRCCS, Rome, Italy, over a one-year period. Pathogenic variants along with key information regarding oro-motor features were collected. Sialorrhea was quantified using the Drooling Quotient 5. Feeding abilities were screened using the Italian version of the Montreal Children's Hospital Feeding Scale (I-MCH-FS). The oral sensory processing section of the Sensory Profile completed the assessment. Mild-to-profuse drooling was experienced by 25% of patients, and food taste selectivity was a constant during infancy (65%), with persistence even beyond adolescence. Nineteen percent of participants with long-term enteral feeding dependency had , and mutations. These findings document that mealtime challenges in CFCS do not remain restricted only to the paediatric age, and that supportive care until adulthood plays a key role.
喂养、进食和吞咽困难是心面指综合征（CFCS）患者的主要关注点。本研究旨在从出生到成年定量评估 CFCS 患者喂养技能的发展。27 名（8 名男性；平均年龄：16.7 ± 8.3 岁；中位数年龄：15 岁，年龄范围：1.5-38 岁）经分子证实的 CFCS 临床诊断患者，在意大利罗马的 Fondazione Policlinico Agostino Gemelli-IRCCS 儿科罕见病科，通过为期一年的前瞻性招募纳入本研究。收集了致病变异以及口运动特征的关键信息。使用流涎商 5 来量化流涎情况。使用意大利版蒙特利尔儿童医院喂养量表（I-MCH-FS）筛查喂养能力。感官评估使用感官概况中的口腔感觉处理部分完成。25%的患者有轻度到重度流涎，婴儿期（65%）对食物味道的选择性是持续的，甚至在青春期后也是如此。19%需要长期肠内喂养的参与者携带 和 突变。这些发现表明 CFCS 患者在就餐时的挑战并不仅限于儿童期，并且支持性护理直到成年期起着关键作用。
