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Patterns of Dysphagia and Airway Protection in Infants with 22q11.2‐Deletion Syndrome
- Source :
- The Laryngoscope. 130:2532-2536
- Publication Year :
- 2019
- Publisher :
- Wiley, 2019.
-
Abstract
- 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.
- Subjects :
- Male
0301 basic medicine
Pediatrics
medicine.medical_specialty
medicine.medical_treatment
03 medical and health sciences
0302 clinical medicine
Tracheal aspiration
DiGeorge syndrome
DiGeorge Syndrome
medicine
Humans
Deletion syndrome
Airway Management
Retrospective Studies
business.industry
Infant
Immunosuppression
Evidence-based medicine
medicine.disease
Dysphagia
Deglutition
030104 developmental biology
Otorhinolaryngology
Failure to thrive
Pharynx
Female
medicine.symptom
Deglutition Disorders
Airway
business
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 15314995 and 0023852X
- Volume :
- 130
- Database :
- OpenAIRE
- Journal :
- The Laryngoscope
- Accession number :
- edsair.doi.dedup.....54a4e71784fcabbce4fa175e380d33ae