Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Roma, Italy.
Department of Life Sciences and Public Health, Faculty of Medicine and Surgery, Università Cattolica del Sacro Cuore, 00168 Roma, Italy.
Genes (Basel). 2023 Sep 22;14(10):1843. doi: 10.3390/genes14101843.
syndrome is an autosomal-dominant neurodevelopmental disorder featuring developmental delay; intellectual disability; behavioral disturbances; movement disorders; visual defects; and subtle facial features caused by de novo loss-of-function variants in the gene. Due to paucity of data, this study intends to describe feeding issues and oral-motor dyspraxia in an unselected cohort of 10 patients with a confirmed molecular diagnosis. Pathogenic variants along with key information regarding oral-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). Mild-to-severe coordination difficulties in single or in a sequence of movements involving the endo-oral and peri-oral muscles were noticed across the entire cohort. Mild-to-profuse drooling was a commonly complained-about issue by 30% of parents. The mean total I-MCH-FS t-score equivalent was 43.1 ± 7.5. These findings contribute to the understanding of the syndrome highlighting the oral motor phenotype, and correlating specific gene variants with clinical characteristics.
该综合征是一种常染色体显性神经发育障碍，其特征为发育迟缓、智力残疾、行为障碍、运动障碍、视力缺陷以及由于基因中的新生功能丧失变异而导致的微妙面部特征。由于数据有限，本研究旨在描述未经选择的 10 名经分子诊断确诊的患者的喂养问题和口腔运动障碍。收集了致病性变异以及与口腔运动特征相关的关键信息。使用流涎商 5 来量化流涎。使用意大利版蒙特利尔儿童医院喂养量表（I-MCH-FS）来筛查喂养能力。整个队列都注意到单个或一系列涉及内口腔和口腔周围肌肉的运动存在轻度至重度协调困难。30%的父母抱怨有轻度至重度流涎。平均总 I-MCH-FS t 评分等效值为 43.1±7.5。这些发现有助于理解综合征，突出了口腔运动表型，并将特定的基因变异与临床特征相关联。
