Rossi Natalia Freitas, Souza Deise Helena de, Moretti-Ferreira Danilo, Giacheti Célia Maria
Departamento de Genética do Instituto de Biociências de Botucatu (IBB - Unesp) - São Paulo.
Pro Fono. 2009 Apr-Jun;21(2):107-11. doi: 10.1590/s0104-56872009000200004.
the speech fluency pattern attributed to individuals with Williams-Beuren syndrome (WBS) is supported by the effectiveness of the phonological loop. Some studies have reported the occurrence of speech disruptions caused by lexical and semantic deficits. However, the type and frequency of such speech disruptions has not been well elucidated.
to determine the speech fluency profile of individuals with WBS and to compare the speech performance of these individuals to a control group matched by gender and mental age.
Twelve subjects with Williams-Beuren syndrome, chronologically aged between 6.6 and 23.6 years and mental age ranging from 4.8 to 14.3 years, were evaluated. They were compared with another group consisting of 12 subjects with similar mental age and with no speech or learning difficulties. Speech fluency parameters were assessed according to the ABFW Language Test: type and frequency of speech disruptions and speech rate. The obtained results were compared between the groups.
In comparison with individuals of similar mental age and typical speech and language development, the group with Williams-Beuren syndrome showed a greater percentage of speech discontinuity, and an increased frequency of common hesitations and word repetition.
The speech fluency profile presented by individuals with WBS in this study suggests that the presence of disfluencies can be caused by deficits in the lexical, semantic, and syntactic processing of verbal information. The authors stress that further systematic investigations on the subject are warranted.
威廉姆斯-贝伦综合征（WBS）患者的言语流畅模式得到了语音回路有效性的支持。一些研究报告了由词汇和语义缺陷引起的言语中断情况。然而，此类言语中断的类型和频率尚未得到充分阐明。
确定WBS患者的言语流畅特征，并将这些患者的言语表现与按性别和心理年龄匹配的对照组进行比较。
对12名威廉姆斯-贝伦综合征患者进行了评估，他们的实际年龄在6.6至23.6岁之间，心理年龄在4.8至14.3岁之间。将他们与另一组由12名心理年龄相似且无言语或学习困难的受试者进行比较。根据ABFW语言测试评估言语流畅参数：言语中断的类型和频率以及语速。对两组所得结果进行比较。
与心理年龄相似且言语和语言发育正常的个体相比，威廉姆斯-贝伦综合征组的言语不连续性百分比更高，常见犹豫和单词重复的频率增加。
本研究中WBS患者呈现的言语流畅特征表明，言语不流畅的出现可能是由言语信息的词汇、语义和句法处理缺陷所致。作者强调有必要对该主题进行进一步的系统研究。
