Age-Related Dysphagia Among Children with 22q11.2-Deletion Syndrome

ObjectiveTo describe videofluoroscopic swallow study (VFSS) findings for children with 22q11.2-deletion syndrome and evaluate age-associated changes.DesignRetrospective case series.SettingTertiary children's hospital.Patients, ParticipantsChildren <18 years old.MethodsAll VFSS between 2016 and 2021 were included. Comorbidities and dysphagia patterns were compared between children younger or older than 2 years of age.InterventionsNone.Main Outcome MeasuresAbnormal swallowing findings on VFSS measured by a standardized severity scale of oral and pharyngeal dysphagia.Results40 children obtained a VFSS at a mean age of 4.3 years (standard deviation (SD): 5.5). Congenital heart disease was seen in 78% (N = 31) and gastroesophageal reflux disease in 50% (N = 20). Oropharyngeal dysphagia was demonstrated in 98% (N = 39). Oral residue was seen in 30% (N = 12) and 28% (N = 11) had pharyngonasal reflux. Pharyngeal residue was noted in 75% (N = 30), abnormal pharyngeal squeeze in 55% (N = 22), abnormal hyolaryngeal elevation in 45% (N = 18), delayed swallow in 45% (N = 18), and pharyngeal pooling in 15% (N = 6). Thin-liquid aspiration was identified in 35% (N = 14). A modified diet was required for 75% (N = 30) and 38% of children (N = 15) also required tube feeding. When comparing the children less than 2 years (53%, N = 21), pharyngeal squeeze abnormalities were less common compared to older children (33% vs. 79%, P = .01).ConclusionOropharyngeal dysphagia is common in children with 22q11.2-deletion syndrome characterized by abnormal pharyngeal squeeze and hyolaryngeal elevation with delayed swallow triggers. While most maintained modified oral intake, age-related changes were not encountered on VFSS.