Dysphagia in children with a 22q11.2 deletion: Unusual pattern found on modified barium swallow

Objectives: To delineate feeding dysfunction in a population of children wi th a 22q11.2 deletion and report the associated findings noted during the m odified barium swallow (RIBS). Study design: Seventy-five children with a chromosome 22q11.2 deletion and history of persistent feeding difficulty received a feeding evaluation, inc luding an AIBS for those children for whom there was concern about airway p enetration. Results: A consistent pattern of feeding difficulty independent of palatal or cardiac involvement, emerged From the evaluations. This group typically has trouble coordinating the suck/swallow/breath pattern, resulting in slow nipple Feedings interrupted by gagging or regurgitation. Recurrent vomitin g and constipation are common. With advancement to chewable table foods, ga gging or refusal develops, related to an immature oral transport pattern. T he MBS studies demonstrate pharyngeal hypercontractility, circopharyngeal p rominence, and/or diverticula. Conclusions: Because of the consistency of dysphagic symptoms and AIBS find ings, we propose that dysmotility, especially through the pharyngoesophagea l segment, is central to the dysphagia affecting this group. Dysphagia rela ted to dysmotility may be underdiagnosed in this population or erroneously attributed to cardiac disease. Therefore attention to feeding status and in vestigation with MBS and gastrointestinal studies as warranted are recommen ded for all patients with a 22q11.2 deletion and feeding problems.