Dysphagia in children with a 22q11.2 deletion: Unusual pattern found on modified barium swallow

作     者：Eicher, PS McDonald-McGinn, DM Fox, CA Driscoll, DA Emanuel, BS Zackai, EH 

作者机构：Childrens Hosp Philadelphia Div Human Genet & Mol Biol Philadelphia PA 19104 USA Childrens Hosp Philadelphia Philadelphia Childrens Seashore House Philadelphia PA 19104 USA Univ Penn Med Ctr Dept Obstet & Gynecol Philadelphia PA 19104 USA Univ Penn Med Ctr Dept Pediat Philadelphia PA 19104 USA 

出 版 物：《JOURNAL OF PEDIATRICS》 (儿科学杂志)

年 卷 期：2000年第137卷第2期

页      面：158-164页

核心收录：

学科分类：1002[医学-临床医学] 100202[医学-儿科学] 10[医学] 

主　　题：畸形 多发性/放射摄影术 染色体缺失 染色体 人 22对 吞咽 吞咽障碍/病因学 吞咽障碍/病理生理学 吞咽障碍/放射摄影术 DiGeorge综合征/并发症 食管/畸形 食管/放射摄影术 咽/畸形 咽/放射摄影术 综合征 青少年 儿童 儿童 学龄前 女(雌)性 人类 婴儿 婴儿 新生 男(雄)性 

摘      要：Objectives: To delineate feeding dysfunction in a population of children with a 22q11.2 deletion and report the associated findings noted during the modified barium swallow (RIBS). Study design: Seventy-five children with a chromosome 22q11.2 deletion and history of persistent feeding difficulty received a feeding evaluation, including an AIBS for those children for whom there was concern about airway penetration. Results: A consistent pattern of feeding difficulty independent of palatal or cardiac involvement, emerged From the evaluations. This group typically has trouble coordinating the suck/swallow/breath pattern, resulting in slow nipple Feedings interrupted by gagging or regurgitation. Recurrent vomiting and constipation are common. With advancement to chewable table foods, gagging or refusal develops, related to an immature oral transport pattern. The MBS studies demonstrate pharyngeal hypercontractility, circopharyngeal prominence, and/or diverticula. Conclusions: Because of the consistency of dysphagic symptoms and AIBS findings, we propose that dysmotility, especially through the pharyngoesophageal segment, is central to the dysphagia affecting this group. Dysphagia related to dysmotility may be underdiagnosed in this population or erroneously attributed to cardiac disease. Therefore attention to feeding status and investigation with MBS and gastrointestinal studies as warranted are recommended for all patients with a 22q11.2 deletion and feeding problems.