Speech patterns in Kabuki make-up syndrome: a case report.
The case of a girl aged 3 years and 8 months with Kabuki make-up syndrome is reported. At presentation, she had normal cognitive functioning, and she also had a history of otitis media, a submucous cleft palate, and some hypotonia. Language testing showed normal receptive skills and good expressive vocabulary but poor morphosyntactic abilities. Speech analysis showed that she was capable of producing most of the sounds of her native language but demonstrated high variability in production of the sounds. In addition, she inconsistently simplified words by application of several phonologic processes. Possible explanations for the communication problems demonstrated are discussed.
Van Lierde
K M
KM
Department of Otorhinolaryngology, Audiology and Speech Pathology, University of Ghent, Belgium. kristiane.vanlierde@rug.ac.be
Van Borsel
J
J
Van Cauwenberge
P
P
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D001184:Articulation Disorders / Q000175:diagnosis* / Q000235:genetics; D002675:Child, Preschool; D002972:Cleft Palate / Q000175:diagnosis / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D007805:Language Development Disorders / Q000175:diagnosis* / Q000235:genetics; D009123:Muscle Hypotonia / Q000175:diagnosis / Q000235:genetics; D010700:Phonetics; D013062:Speech Articulation Tests; D013577:Syndrome