Articulation in Beckwith-Wiedemann syndrome: Two case studies

Beckwith-Wiedemann syndrome (BWS) is a genetic disorder with abdominal wall defects, gigantism, and macroglossia as its main characteristics. A number of investigators have reported the presence of articulation errors in indi viduals with BWS due to macroglossia. However, few data are available on th e exact nature of the articulation problems of subjects with BWS. This pape r presents two case studies that highlight the articulatory characteristics associated with BWS. Subjects were a boy aged 5 years 9 months and a girl aged 3 years 6 months. A phonetic analysis was conducted in which it was fo und that primarily consonants with an anterior place of articulation were a ffected. The error patterns appeared to be related to inappropriate tongue and lip postures. An observer experiment in which naive and expert observer s rated speech samples from three modes of presentation (auditory-only, vis ual-only, and audiovisual) showed that the subjects' speech was more distur bed visually than auditorily.