Pharyngeal dysphagia in children with Down syndrome

Pharyngeal dysphagia (PD) in children with Down syndrome (DS) has not been examined. This study aims to describe the incidence, duration, and precipitating factors of PD in a large cohort of children with DS.

Case series with chart review.

Tertiary care children's hospital.

The International Classification of Diseases, Ninth Revision (ICD-9) code for DS was used to identify all children treated at a single institution from 1992 to 2012. Patient charts were reviewed for signs, symptoms, and documentation of PD. Videofluoroscopic swallow studies (VFSS) established the final diagnosis of PD in affected patients. Otolaryngologic interventions and their impact on PD were also explored.

A total of 228 patients with the ICD-9 code for DS were found. Twenty-seven patients (11.8%) were excluded due to record deficiencies. Thus, of the 201 children with DS who were available for complete review, 116 (57.7%) had and established diagnosis of PD by VFSS. The mean age at first diagnosis of PD was 1.69 years. At the time of the study, the cohort mean age was 7.45 years, with only 20 patients demonstrating resolution of PD. Patients with a tracheotomy or significant neurologic delays were more likely to have worsening or prolonged PD. Laryngeal clefts were identified in 3 patients, whereas 78 (67%) underwent surgery for upper airway obstruction that did not consistently improve PD.

This study suggests that PD is common, persistent, and should be routinely explored in children with DS. Intervention for upper airway obstruction had a limited role for PD in this study cohort.