Articulation in Beckwith-Wiedemann Syndrome: Two Case Studies

Abstract

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 individuals with BWS due to macroglossia. However, few data are available on the exact nature of the articulation problems of subjects with BWS. This paper 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 found that primarily consonants with an anterior place of articulation were affected. The error patterns appeared to be related to inappropriate tongue and lip postures. An observer experiment in which naive and expert observers rated speech samples from three modes of presentation (auditory-only, visual-only, and audiovisual) showed that the subjects’ speech was more disturbed visually than auditorily.