Patterns of Dysphagia and Airway Protection in Infants with 22q11.2-Deletion Syndrome.

OBJECTIVE: 22q11.2-deletion syndrome is a genetic condition that affects 1:3000 births. In addition to cardiac anomalies and immunosuppression, individuals with 22q11.2-deletion syndrome can have feeding difficulties from birth resulting in failure to thrive and infections. This study aims to characterize the dysphagia seen in infants with 22q11.2-deletion syndrome. METHODS: This is a retrospective chart review of infants with 22q11.2-deletion syndrome who underwent videofluoroscopic swallow studies (VFSS) from June 1, 2008 to January 1, 2018 at a tertiary children's hospital. Demographic data and VFSS findings were collected. RESULTS: Forty-four patients were identified, 52% were females, and mean age at VFSS was 71 days. In their lifetime, 30% of the patients had at least 1 episode of pneumonia, 66% had NG-tube placement and 41% required G-tube placement. 93% had oral-phase dysphagia, and 89% had pharyngeal-phase dysphagia. Twenty-two patients (50%) demonstrated evidence of penetration. Eighteen patients (41%) showed tracheal aspiration. Of the patients that showed tracheal aspiration, 83% of them aspirated "silently." Three patients (7%) had upper esophageal sphincter (UES) opening dysfunction. CONCLUSION: Vast majority of the infants with 22q11.2-deletion syndrome referred for swallow studies demonstrated evidence of dysphagia in both oral and pharyngeal phases with deficits in swallow physiology not yet documented in other studies. Importantly, more than 80% of these infants showed evidence of "silent" tracheal aspiration, which can lead to recurrent pneumonia and significant morbidity if overlooked. Prompt recognition is paramount in these infants to intervene early and reduce long-term complications and also develop targeted interventions. LEVEL OF EVIDENCE: 4 Laryngoscope, 130:2532-2536, 2020.

Effects of extracellular calcium and surgical techniques on restoration of axonal continuity by polyethylene glycol fusion following complete cut or crush severance of rat sciatic nerves.

Complete crush or cut severance of sciatic nerve axons in rats and other mammals produces immediate loss of axonal continuity. Loss of locomotor functions subserved by those axons is restored only after months, if ever, by outgrowths regenerating at ∼1 mm/day from the proximal stumps of severed axonal segments. The distal stump of a severed axon typically begins to degenerate in 1-3 days. We recently developed a polyethylene glycol (PEG) fusion technology, consisting of sequential exposure of severed axonal ends to hypotonic Ca(2+) -free saline, methylene blue, PEG in distilled water, and finally Ca(2+) -containing isotonic saline. This study examines factors that affect the PEG fusion restoration of axonal continuity within minutes, as measured by conduction of action potentials and diffusion of an intracellular fluorescent dye across the lesion site of rat sciatic nerves completely cut or crush severed in the midthigh. Also examined are factors that affect the longer-term PEG fusion restoration of lost behavioral functions within days to weeks, as measured by the sciatic functional index. We report that exposure of cut-severed axonal ends to Ca(2+) -containing saline prior to PEG fusion and stretch/tension of proximal or distal axonal segments of cut-severed axons decrease PEG fusion success. Conversely, trimming cut-severed ends in Ca(2+) -free saline just prior to PEG fusion increases PEG fusion success. PEG fusion prevents or retards the Wallerian degeneration of cut-severed axons, as assessed by measures of axon diameter and G ratio. PEG fusion may produce a paradigm shift in the treatment of peripheral nerve injuries. © 2016 Wiley Periodicals, Inc.