Videofluororadiographic Descriptors of Swallowing Physiology in Typical Rett Syndrome: Post-Regression Stabilization During Early Childhood

Abstract

Typical or classic Rett syndrome (RTT) is the only pervasive neurodevelopmental disorder with a known chromosomal abnormality. Despite differences in clinical phenotype of girls with RTT who share the same gene mutation on chromosome X, there is commonality in the stages and core features of this profoundly disabling disorder, including the deterioration of acquired vocal behaviors and meaningful speech during the regression stage. The purpose of this article is to ascertain any commonality in the swallowing neurophysiology of a select sample of girls with typical RTT who were under the age of 5 years and had undergone the devastating effects of developmental regression.