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


METHODS
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.
Eicher
P S
PS
Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, PA, USA.
McDonald-Mcginn
D M
DM
Fox
C A
CA
Driscoll
D A
DA
Emanuel
B S
BS
Zackai
E H
EH
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D003679:Deglutition; D003680:Deglutition Disorders / Q000000981:diagnostic imaging / Q000209:etiology / Q000503:physiopathology*; D004062:DiGeorge Syndrome / Q000150:complications*; D004947:Esophagus / Q000002:abnormalities / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010614:Pharynx / Q000002:abnormalities / Q000000981:diagnostic imaging; D011859:Radiography; D013577:Syndrome