OBJECTIVES: To delineate feeding dysfunction in a population of children with a 22q11.2 deletion and report the associated findings noted during the modified barium swallow (MBS). STUDY DESIGN: Seventy-five children with a chromosome 22q11.2 deletion and history of persistent feeding difficulty received a feeding evaluation, including an MBS for those children for whom there was concern about airway penetration. 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 vomiting and constipation are common. With advancement to chewable table foods, gagging or refusal develops, related to an immature oral transport pattern. The MBS studies demonstrate pharyngeal hypercontractility, cricopharyngeal prominence, and/or diverticula. CONCLUSIONS: Because of the consistency of dysphagic symptoms and MBS findings, we propose that dysmotility, especially through the pharyngoesophageal segment, is central to the dysphagia affecting this group. Dysphagia related to dysmotility may be underdiagnosed in this population or erroneously attributed to cardiac disease. Therefore attention to feeding status and investigation with MBS and gastrointestinal studies as warranted are recommended for all patients with a 22q11.2 deletion and feeding problems.
OBJECTIVES: To delineate feeding dysfunction in a population of children with a 22q11.2 deletion and report the associated findings noted during the modified barium swallow (MBS). STUDY DESIGN: Seventy-five children with a chromosome 22q11.2 deletion and history of persistent feeding difficulty received a feeding evaluation, including an MBS for those children for whom there was concern about airway penetration. 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 vomiting and constipation are common. With advancement to chewable table foods, gagging or refusal develops, related to an immature oral transport pattern. The MBS studies demonstrate pharyngeal hypercontractility, cricopharyngeal prominence, and/or diverticula. CONCLUSIONS: Because of the consistency of dysphagic symptoms and MBS findings, we propose that dysmotility, especially through the pharyngoesophageal segment, is central to the dysphagia affecting this group. Dysphagia related to dysmotility may be underdiagnosed in this population or erroneously attributed to cardiac disease. Therefore attention to feeding status and investigation with MBS and gastrointestinal studies as warranted are recommended for all patients with a 22q11.2 deletion and feeding problems.
Authors: Matthew E Randolph; Qingwei Luo; Justin Ho; Katherine E Vest; Alan J Sokoloff; Grace K Pavlath Journal: J Physiol Date: 2014-10-17 Impact factor: 5.182
Authors: Daniel W Meechan; Thomas M Maynard; Eric S Tucker; Alejandra Fernandez; Beverly A Karpinski; Lawrence A Rothblat; Anthony-S LaMantia Journal: Prog Neurobiol Date: 2015-04-09 Impact factor: 11.685
Authors: Donna M McDonald-McGinn; Kathleen E Sullivan; Bruno Marino; Nicole Philip; Ann Swillen; Jacob A S Vorstman; Elaine H Zackai; Beverly S Emanuel; Joris R Vermeesch; Bernice E Morrow; Peter J Scambler; Anne S Bassett Journal: Nat Rev Dis Primers Date: 2015-11-19 Impact factor: 52.329