Lewis Barbara A, Avrich Allison A, Freebairn Lisa A, Taylor H Gerry, Iyengar Sudha K, Stein Catherine M
Department of Psychological Sciences, Case Western Reserve University, Cleveland, Ohio.
Top Lang Disord. 2011;31(2):112-127. doi: 10.1097/TLD.0b013e318217b5dd.
The present study examined associations of 5 endophenotypes (i.e., measurable skills that are closely associated with speech sound disorders and are useful in detecting genetic influences on speech sound production), oral motor skills, phonological memory, phonological awareness, vocabulary, and speeded naming, with 3 clinical criteria for classifying speech sound disorders: severity of speech sound disorders, our previously reported clinical subtypes (speech sound disorders alone, speech sound disorders with language impairment, and childhood apraxia of speech), and the comorbid condition of reading disorders. PARTICIPANTS AND METHOD: Children with speech sound disorders and their siblings were assessed at early childhood (ages 4-7 years) on measures of the 5 endophenotypes. Severity of speech sound disorders was determined using the z score for Percent Consonants Correct-Revised (developed by Shriberg, Austin, Lewis, McSweeny, & Wilson, 1997). Analyses of variance were employed to determine how these endophenotypes differed among the clinical subtypes of speech sound disorders. RESULTS AND CONCLUSIONS: Phonological memory was related to all 3 clinical classifications of speech sound disorders. Our previous subtypes of speech sound disorders and comorbid conditions of language impairment and reading disorder were associated with phonological awareness, while severity of speech sound disorders was weakly associated with this endophenotype. Vocabulary was associated with mild versus moderate speech sound disorders, as well as comorbid conditions of language impairment and reading disorder. These 3 endophenotypes proved useful in differentiating subtypes of speech sound disorders and in validating current clinical classifications of speech sound disorders.
本研究考察了5种内表型（即与语音障碍密切相关且有助于检测基因对语音产生影响的可测量技能）、口腔运动技能、语音记忆、语音意识、词汇量和快速命名与3种语音障碍临床分类标准之间的关联：语音障碍的严重程度、我们之前报告的临床亚型（单纯语音障碍、伴有语言障碍的语音障碍和儿童言语失用症）以及阅读障碍的共病情况。参与者与方法：对患有语音障碍的儿童及其兄弟姐妹在幼儿期（4至7岁）进行5种内表型的测量评估。使用修订后的正确辅音百分比z分数（由施里伯格、奥斯汀、刘易斯、麦克休尼和威尔逊于1997年制定）来确定语音障碍的严重程度。采用方差分析来确定这些内表型在语音障碍临床亚型之间是如何不同的。结果与结论：语音记忆与语音障碍的所有3种临床分类相关。我们之前的语音障碍亚型以及语言障碍和阅读障碍的共病情况与语音意识相关，而语音障碍的严重程度与这种内表型的关联较弱。词汇量与轻度和中度语音障碍以及语言障碍和阅读障碍的共病情况相关。这3种内表型被证明有助于区分语音障碍的亚型并验证当前语音障碍的临床分类。
