LaMantia Anthony-Samuel, Moody Sally A, Maynard Thomas M, Karpinski Beverly A, Zohn Irene E, Mendelowitz David, Lee Norman H, Popratiloff Anastas
Institute for Neuroscience, The George Washington University School of Medicine and Health Sciences, Washington D.C., USA; Department of Pharmacology and Physiology, George Washington University, School of Medicine and Health Sciences, Washington D.C., USA.
Institute for Neuroscience, The George Washington University School of Medicine and Health Sciences, Washington D.C., USA; Department of Anatomy and Regenerative Biology, George Washington University, School of Medicine and Health Sciences, Washington D.C., USA.
Dev Biol. 2016 Jan 15;409(2):329-42. doi: 10.1016/j.ydbio.2015.09.024. Epub 2015 Nov 7.
Pediatric dysphagia-feeding and swallowing difficulties that begin at birth, last throughout childhood, and continue into maturity--is one of the most common, least understood complications in children with developmental disorders. We argue that a major cause of pediatric dysphagia is altered hindbrain patterning during pre-natal development. Such changes can compromise craniofacial structures including oropharyngeal muscles and skeletal elements as well as motor and sensory circuits necessary for normal feeding and swallowing. Animal models of developmental disorders that include pediatric dysphagia in their phenotypic spectrum can provide mechanistic insight into pathogenesis of feeding and swallowing difficulties. A fairly common human genetic developmental disorder, DiGeorge/22q11.2 Deletion Syndrome (22q11DS) includes a substantial incidence of pediatric dysphagia in its phenotypic spectrum. Infant mice carrying a parallel deletion to 22q11DS patients have feeding and swallowing difficulties that approximate those seen in pediatric dysphagia. Altered hindbrain patterning, craniofacial malformations, and changes in cranial nerve growth prefigure these difficulties. Thus, in addition to craniofacial and pharyngeal anomalies that arise independently of altered neural development, pediatric dysphagia may result from disrupted hindbrain patterning and its impact on peripheral and central neural circuit development critical for feeding and swallowing. The mechanisms that disrupt hindbrain patterning and circuitry may provide a foundation to develop novel therapeutic approaches for improved clinical management of pediatric dysphagia.
小儿吞咽困难——从出生开始,持续整个童年,并持续到成年期的进食和吞咽困难——是发育障碍儿童中最常见、最不为人所理解的并发症之一。我们认为小儿吞咽困难的一个主要原因是产前发育过程中后脑模式的改变。这种变化会损害颅面结构,包括口咽肌肉和骨骼成分,以及正常进食和吞咽所需的运动和感觉回路。其表型谱包括小儿吞咽困难的发育障碍动物模型,可以为进食和吞咽困难的发病机制提供机理上的见解。一种相当常见的人类遗传性发育障碍,狄乔治/22q11.2缺失综合征(22q11DS)在其表型谱中包括相当高比例的小儿吞咽困难。携带与22q11DS患者平行缺失的幼鼠存在进食和吞咽困难,与小儿吞咽困难中所见的情况相似。后脑模式改变、颅面畸形和颅神经生长变化预示着这些困难。因此,除了独立于神经发育改变而出现的颅面和咽部异常外,小儿吞咽困难可能是由于后脑模式破坏及其对进食和吞咽至关重要的外周和中枢神经回路发育的影响所致。破坏后脑模式和神经回路的机制可能为开发改善小儿吞咽困难临床管理的新治疗方法提供基础。