Analysis of speech characteristics in children with velocardiofacial syndrome (VCFS) and children with phenotypic overlap without VCFS

Objective: To address two questions of theoretical importance regarding the profile and course of communication impairment associated with velocardiofacial syndrome (VCFS): (1) do speech characteristics of children with VCFS differ from a group of children with some of the phenotypic characteristics of VCFS who do not have the syndrome, and (2) do younger children with VCFS demonstrate speech patterns that differ from older children with VCFS? Design: Prospective, cross-sectional study comparing two groups of children at two age levels. Patients: Thirteen children with VCFS and eight children with some of the phenotypic features of VCFS who did not have the syndrome. Children ranged in age from 3 to 10 years. Main Outcome Measure: (1) Broad phonetic transcription of speech yielding measures of number of consonant types, Percent Consonant Correct, and percentage of glottal stops used; and (2) composite ratings of velopharyngeal function made from perceptual, aerodynamic, and endoscopic evaluations. Results: Younger children with VCFS demonstrated greater speech impairment than older children with VCFS or the children without VCFS, such as smaller consonant inventories, greater number of developmental errors, greater severity of articulation disorder, and higher frequency of glottal stop use. The relationship between ratings of velopharyngeal function and the speech variables analyzed was not straightforward. Conclusions: Some young children with VCFS demonstrated speech impairment that is qualitatively and quantitatively different from older children with VCFS or children without VCFS. This finding supports the hypothesis that some children with VCFS demonstrate a profile of speech production that is different from normal but also may be specific to the syndrome.