Van Lierde K M, Van Borsel J, Van Cauwenberge P
Department of Otorhinolaryngology, Audiology and Speech Pathology, University of Ghent, Belgium.
J Commun Disord. 2000 Nov-Dec;33(6):447-61; quiz 461-2. doi: 10.1016/s0021-9924(00)00032-0.
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.
报告了一例3岁8个月患有歌舞伎综合征的女孩的病例。初诊时，她认知功能正常，有中耳炎、黏膜下腭裂病史，还有一些肌张力减退。语言测试显示她的接受能力正常，表达词汇量良好，但形态句法能力较差。言语分析表明，她能够发出母语的大部分音，但发音具有高度变异性。此外，她通过几种语音过程不一致地简化单词。文中讨论了所表现出的沟通问题的可能原因。
