Co-occurrence of Dystonic and Dyskinetic Tongue Movements with Oral Apraxia in Post-regression Dysphagia in Classical Rett Syndrome Years of Life 1 Through 5.

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.

How radiologic/clinicopathologic features relate to compressive symptoms in benign thyroid disease.

OBJECTIVES/HYPOTHESIS: To identify compressive symptomatology in a patient cohort with benign thyroid disease who underwent thyroidectomy. To determine radiographic/clinicopathologic features related to and predictive of a compressive outcome. STUDY DESIGN: Retrospective cohort study. METHODS: Medical records of 232 patients with benign thyroid disease on fine needle aspiration who underwent thyroidectomy from 2009 to 2012 at an academic medical center were reviewed. Data collection and analyses involved subjects' demographics, compressive symptoms, preoperative airway encroachment, intubation complications, specimen weight, and final pathologic diagnosis. RESULTS: Subjects were ages 14 to 86 years (mean: 52.4 years). Ninety-six subjects (41.4%) reported compressive symptomatology of dysphagia (n =74; 32%), dyspnea (n = 39; 17%), and hoarseness (n = 24; 10%). Ninety-seven (42.2%) had preoperative airway encroachment. Dyspnea was significantly related to tracheal compression, tracheal deviation, and substernal extension. Dysphagia was related to tracheal compression and tracheal deviation. Compressive symptoms and preoperative airway encroachment were not related to intubation complications. Final pathologic diagnosis was not related to compressive symptoms, whereas specimen weight was significantly related to dyspnea and dysphagia. Final pathology revealed 74 subjects (32%) with malignant lesions. Malignant and benign nodular subject groups differed significantly in substernal extension, gland weight, tracheal deviation, and dyspnea. Logit modeling for dyspnea was significant for tracheal compression as a predictor for the likelihood of dyspnea. CONCLUSION: Dyspnea was closely related to preoperative airway encroachment and most indicative of a clinically relevant thyroid in our cohort with benign thyroid disease. Tracheal compression was found to have predictive value for the likelihood of a dyspneic outcome. LEVEL OF EVIDENCE: 4. Laryngoscope, 127:993-997, 2017.

Laryngopharyngeal dysmotility in multiple sclerosis.

This study investigated the swallowing physiology of 13 patients [age 27-69 years (mean = 45 years)] with multiple sclerosis (MS) who had Kurtzke Extended Disability Status Scale (EDSS) scores ranging from 2 to 9 (mean = 6) and who complained of difficulty swallowing. Videofluoroscopic recordings of the patients' calibrated liquid and paste bolus swallows were analyzed and compared with published normative data. Results showed that swallowing physiology was disordered in the 13 MS patients with severity level ranging from mild to severe. Eleven patients had primary pharyngeal dysphagia. 1 patient had primary laryngeal dysphagia, and 1 patient had primary oral dysphagia. Laryngeal dysmotility, the predominant anterior pharyngeal segment dysfunction, was evidenced in all 13 patients with MS. They displayed significantly longer-than-normal pharyngeal delay times, shorter-than-normal time intervals from onset of laryngeal excursion to return to rest. and longer-than-normal time intervals between airway closure at the arytenoid to epiglottic base and upper esophageal sphincter opening. Pharyngeal constrictor dysmotility, the predominant posterior pharyngeal segment dysfunction, was observed in 11 of the 13 MS patients. A significant relationship was found between the severity of the MS patients' functional swallowing impairment and posterior pharyngeal segment dysfunction. Material penetrated the supraglottic airway of 9 patients with 1 patient aspirating. A significant relationship was observed between supraglottic penetration and brainstem dysfunction. No significant relationship was found between severity of dysphagia and neurological disability as measured by EDSS scores or neurological impairment as measured by Functional System (FS) scores. Disturbed neuromotor sequencing of laryngeal events and a progression in neuromotor weakening of the pharyngeal constrictors were suggested from the findings.