The aim of this study was to delineate the language difficulties in Kabuki Syndrome. At presentation, the child with Kabuki Syndrome had waddling gait, dolicocephaly, and frontal bossing. On administering an Indian standardized test (Linguistic Profile Test), different aspects of spontaneous language production were analysed. Receptive language skills were within normal limits, but expressive language skills showed deficits in semantic and syntactic areas. Articulation errors appeared mainly due to poor oral-motor coordination and hypotonia. A dull flat pattern of speech was characteristic to the child.
Malik P, Sharma A, Sakhuja S, Munjal S, Panda NK. Speech and Language Characteristics in Kabuki Syndrome. The Internet Journal of Allied Health Sciences and Practice. 2010 Apr 01;8(2), Article 12.