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.

The effect of a speaking valve on laryngeal aspiration and penetration in children with tracheotomies.

OBJECTIVES/HYPOTHESIS: Alterations in swallowing can occur after tracheotomy and can result in varying degrees of aspiration. In tracheotomized adult patients, use of a Passy Muir Speaking Valve (PMV) has been shown to decrease laryngeal penetration and aspiration of foods and liquids. The objective of this study was to determine if the PMV has a similar effect on laryngeal penetration and aspiration in tracheotomized children. STUDY DESIGN: This is a prospective case-control study. METHODS: Pediatric patients with tracheotomies who were able to tolerate the PMV were identified. Modified barium swallow (MBS) was performed with and without the PMV. Two consistencies, thin liquids and purées, were used. Two speech language pathologists (SLPs), who were blinded to the PMV status, reviewed the recorded MBSs. Three swallows of each consistency were graded on an 8 point Penetration-Aspiration Scale. Residue in the vallecula, piriform sinuses, and posterior pharyngeal wall was graded. RESULTS: Twelve patients were included for analysis. Laryngeal penetration and aspiration was decreased with purées over liquids (P = 0.5 and P = 0.005, respectively) with either the sham valve or the PMV. The presence of the PMV decreased piriform sinus residue (P = 0.01); however, it did not demonstrate a decrease in laryngeal aspiration or penetration. CONCLUSION: Unlike in adults, the presence of PMV did not decrease laryngeal aspiration or penetration in children with tracheotomies. It did, however, improve piriform sinus residue. LEVEL OF EVIDENCE: 3b.

Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive.

OBJECTIVE: Failure to thrive (FTT) is a feature of children with Potocki-Lupski syndrome (PTLS) [duplication 17p11.2]. This study was designed to describe the growth characteristics of 24 subjects with PTLS from birth through age 5 years in conjunction with relevant physical features and swallow function studies. STUDY DESIGN: We evaluated 24 individuals with PTLS who were ascertained by chromosome analysis and/or array comparative genome hybridization. Clinical assessments included review of medical records, physical examination, otolaryngological examination, and swallow function studies. Measures of height and weight were converted to Z-scores. RESULTS: The mean weight-for-age and weight-for-length Z-scores at birth were lower (P < .01) than the reference standard and did not change with age. A history of poor feeding, hypotonia, and FTT were reported in 92%, 88%, and 71%, respectively. Individuals with hypotonia had lower weight-for-age and body mass index-for-age Z-scores (P = .01). Swallow function studies demonstrated at least one abnormality in all subjects. CONCLUSIONS: FTT is common in children with PTLS. We hypothesize that oropharyngeal dysphagia and hypotonia likely contribute to FTT in patients with PTLS and recommend that once a diagnosis is established, the individual be assessed for feeding and growth issues and be availed of oromotor therapy and nutritional services.