Examining a New Method to Studying Velopharyngeal Structures in a Child With 22q11.2 Deletion Syndrome

Abstract

Purpose To date, no studies have imaged the velopharynx in children with 22q11.2 deletion syndrome (22q11.2 DS) without the use of sedation. Dysmorphology in velopharyngeal structures has been shown to have significant negative implications on speech among these individuals. This single case study was designed to assess the feasibility of a child-friendly magnetic resonance imaging (MRI) scanning protocol in this clinically challenging population and to determine the utility of this MRI protocol for future work in this area. Method One 6-year-old White girl diagnosed with 22q11.2 DS was imaged using a child-friendly, nonsedated MRI protocol. Quantitative and qualitative measures of the velopharyngeal area and associated structures were evaluated, and comparisons were made to age-matched control subjects with normal velopharyngeal anatomy. Results MRI data were successfully obtained using the child-friendly scanning protocol in the subject in the present study. Quantitative and qualitative differences of the levator muscle and associated velopharyngeal structures were noted. Using these MRI and structural analyses methods, insights related to muscle morphology can be obtained and considered as part of the research and clinical examination of children with 22q11.2 DS. Conclusion The imaging protocol described in this study presents an effective means to counteract difficulties in imaging young children.