Longitudinal Instrumental Assessment and Management of Dysphagia in a Child with Distal Trisomy 13q: A Case Report

Abstract

Background and Clinical Significance: Children with rare neurogenetic disorders may present with complex feeding and swallowing impairments requiring repeated assessment and individualized management. In severe pediatric dysphagia, instrumental evaluation is particularly important for identifying aspiration, characterizing swallowing abnormalities, and informing decisions regarding oral feeding. Case Presentation: We report the longitudinal assessment and management of dysphagia in a 6-year-old girl with genetically confirmed distal trisomy 13q who presented with severe feeding difficulties and prolonged gastrostomy-tube dependence. Serial clinical evaluations and modified barium swallow studies (MBSS), performed between 18 months and six years of age, documented persistent oropharyngeal dysphagia involving both oral and pharyngeal phases. Earlier examinations demonstrated aspiration across tested consistencies, including silent aspiration. Management included structured swallowing therapy, controlled oral trials, texture modification, and continued enteral nutritional support, with feeding recommendations informed by clinical and instrumental reassessments. At 5 years and 10 months, aspiration persisted with thin liquids, although no aspiration was observed with thickened liquids or purees during the assessed trials. At six years of age, no aspiration was observed under the tested conditions, although deep laryngeal penetration and other pharyngeal swallowing abnormalities persisted. These findings supported cautious progression of oral intake while gastrostomy feeding remained necessary. Conclusions: This case highlights the value of longitudinal instrumental swallowing assessment in guiding individualized feeding decisions in children with complex neurodevelopmental disorders. Although swallowing findings changed over time, persistent airway protection abnormalities and differences in assessment conditions underscore the need for cautious interpretation and continued multidisciplinary management.

The authors' abstract, as published at the source. Diagnostics, 2026 · DOI ↗