Dysphagia in children with a 22q11.2 deletion: Unusual pattern found on modified barium swallow
Dysphagia in children with a 22q11.2 deletion: Unusual pattern found on modified barium swallow
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DOI：
10.1067/mpd.2000.105356
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发表时间：
2000-08-01
影响因子：
5.1
通讯作者：
Zackai, EH
中科院分区：
文献类型：
--
作者：
Eicher, PS;McDonald-McGinn, DM;Zackai, EH
目的：描述22q11.2缺失儿童人群的喂养功能障碍，并报告改良吞钡（RIBS）检查中发现的相关结果。研究设计：75名22q11.2缺失且有持续喂养困难病史的儿童接受喂养评估，包括对担心气道渗透的儿童进行AIBS。评估结果显示，进食困难的模式一致，与腭部或心脏受累无关。这一组通常难以协调吮吸/吞咽/呼吸模式，导致缓慢的乳头发热，被呕吐或反流中断。反复呕吐和便秘是常见的。随着咀嚼食物的发展，与不成熟的口腔运输模式有关的呕吐或拒绝发展。MBS的研究表明，咽部收缩过度，circopharyngeal突出，和/或diverticula.Conclusions：由于吞咽困难的症状和AIBS的结果的一致性，我们建议，运动障碍，特别是通过咽食管段，是中央吞咽困难影响这一组。与动力障碍相关的吞咽困难可能在该人群中诊断不足或错误地归因于心脏病。因此，对于所有22q11.2缺失和进食问题的患者，建议注意进食状态，并根据需要进行MBS和胃肠道研究。
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.