Abraham Suzanne S, Taragin Ben, Djukic Alesandra
Departments of Otolaryngology-Head and Neck Surgery & Radiology, Albert Einstein College of Medicine, Bronx, NY, USA,
Dysphagia. 2015 Apr;30(2):128-38. doi: 10.1007/s00455-014-9587-9. Epub 2014 Dec 23.
We do not know the natural history of dysphagia in classical Rett syndrome (RTT) by stage or age. This study investigated swallowing physiology in 23 females ages 1:7 to 5:8 (years, months) with classical Rett syndrome to determine common and distinguishing features of dysphagia in post-regression early Pseudostationary Stage III. In-depth analysis of videofluoroscopic swallowing studies (VFSS) found dysmotility of oral stage events across subjects implicating oral apraxia. Impaired motility was further compromised by recurrent dystonic and dyskinetic movements that co-occurred with oral apraxia during oral ingestion in 78 % (n = 18) of the subjects with RTT. Of this group, 44 % displayed rocking and/or rolling lingual pattern, 56 % had recurrent oral tongue retroflexions, and/or elevated posturing of the tongue tip, and, 72 % displayed multi-wave oropharyngeal transfer pattern. The proportion of subjects whose swallowing motility was disrupted by aberrant involuntary tongue movements did not differ significantly between bolus types (liquid, puree, and solid) trialed. Liquid ingestion was significantly more efficient in subjects using bottles with nipples than their counterparts who used spouted or straw cups. Dystonic and dyskinetic tongue movements disrupted liquid ingestion in subjects using cups with spouts or straws significantly more than those using bottles. Analysis of food ingestion revealed that significantly more subjects were able to orally form, transport, and transfer a puree bolus into the pharynx than they were a solid bolus. A significantly larger number of subjects aspirated and penetrated liquid than they did puree or solid. No significant relationship was found between subjects with airway contamination and those with dystonic and dyskinetic tongue movements. Subjects' rocking and rolling lingual patterns were consistent with those evidenced in adults with Parkinson's disease. Subjects' tongue retroflexions were classified as provisionally unique to RTT. VFSS pre-planning, fluoroscopic procedures, and therapeutic strategies specific to this specialty population were derived.
我们尚不清楚经典型雷特综合征（RTT）吞咽困难按阶段或年龄划分的自然病史。本研究调查了23名年龄在1岁7个月至5岁8个月的女性经典型雷特综合征患者的吞咽生理学，以确定回归后早期假性静止期III吞咽困难的共同特征和区别特征。对视频荧光吞咽造影研究（VFSS）的深入分析发现，所有受试者的口腔期活动均存在运动障碍，提示口腔失用症。在78%（n = 18）的RTT受试者中，反复出现的张力障碍性和运动障碍性运动与口腔失用症同时发生，进一步损害了运动功能。在这一组中，44%表现出摇摆和/或滚动舌模式，56%有反复的口腔舌后翻和/或舌尖抬高姿势，72%表现出多波口咽转移模式。在试验的不同食团类型（液体、泥状食物和固体食物）中，吞咽运动因异常不自主舌运动而中断的受试者比例无显著差异。使用带奶嘴奶瓶的受试者摄入液体的效率明显高于使用带喷嘴杯或吸管杯的受试者。使用带喷嘴杯或吸管杯的受试者，张力障碍性和运动障碍性舌运动对液体摄入的干扰明显大于使用奶瓶的受试者。对食物摄入的分析表明，能够经口形成、运输并将泥状食物团转移至咽部的受试者明显多于固体食物团。吸入和渗透液体的受试者数量明显多于泥状食物或固体食物。气道污染受试者与张力障碍性和运动障碍性舌运动受试者之间未发现显著关系。受试者的摇摆和滚动舌模式与帕金森病成人患者的表现一致。受试者的舌后翻被初步归类为RTT特有的表现。得出了针对该特殊人群的VFSS预规划、荧光检查程序和治疗策略。
