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Patterns of dysphagia and airway protection in infants with 22q11.2-deletion syndrome

The Laryngoscope Oct 18, 2019

Wong NS, et al. - In infants with 22q11.2-deletion syndrome, a genetic condition that affects 1:3000 births, researchers conducted this retrospective chart review to describe patterns of dysphagia and airway protection. The study sample consisted of infants with 22q11.2-deletion syndrome who had videofluoroscopic swallow studies (VFSS) from June 1, 2008, to January 1, 2018, at a tertiary children's hospital. According to results, 44 patients were identified, 52% were females, and the mean age at VFSS was 71 days. Investigators found that the vast majority of infants with 22q11.2-deletion syndrome referred for swallow studies showed signs of dysphagia in both oral and pharyngeal phases with deficits in swallow physiology not yet reported in other research. More than 80% of these infants exhibited evidence of "silent" tracheal aspiration, which, if missed, can lead to recurrent pneumonia and significant morbidity. In these infants, prompt recognition is essential for early intervention and the reduction of long-term complications and also the development of targeted interventions.
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