GENETIC STUDIES OF TRICHO DENTO OSSEOUS SYNDROME: DENTAL & GENETIC DISORDERS

齿毛骨毛综合症的遗传学研究：牙科

• 批准号: 6491956
• 负责人: John T. Wright
• 金额: $ 29.46万
• 依托单位: CASE WESTERN RESERVE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2001
• 资助国家: 美国
• 起止时间: 2001-09-01 至 2002-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6491956
• 关键词: biomedical resource; child (0-11); cognition; communication behavior; female; genetics; growth /development; human subject; male

This project builds upon a previous study which established the familiality of severe phonology disorders based upon an analysis of clinically affected status. The present study is aimed at refining the phenotype for developmental phonology disorders by examining their comorbidity and phenotypic boundaries with language disorders and reading disorders. It proposes to identify subtypes of phonology disorders and examine modes of inheritance for each subtype, while examining and allowing for gender differences which may exist in many of these disorders. In addition, developmental phonology disorders will be compared to reading disorders, or dyslexia, in terms of phenotypic similarities and patterns of inheritance. The validity of family history in predicting later learning problems will also be examined, as will the value of testing battery measurements as predictors of the outcome of therapy for individuals with preschool phonology problems. The goals here are to identify those aspects of performance during the preschool years which predict later speech and language skills, cognitive development, and academic achievement in children with preschool phonology disorders. Emphasis in all of these endeavors is focused on the analysis of quantitative measures of speech, language, and reading. As data collection of reading-disordered families and of longitudinal follow-up measures of phonology-disordered families are still in progress, analytic activity has so far focused on covariate adjustment and admixture analyses of initial phonological measures. These analyses have established the existence of effects of gender and, to a lesser extent, of socio-economic status for these measures. Despite the use of age-specific norms, age effects were noted for most of the measures considered. To some extent, this may be attributable to the lack of available population figures for adult populations, but compensatory strategies in test-taking in adulthood represent another possibility. Approaches to adjust for this phenomenon, such as standardization within developmental epoch, are currently being considered. Other efforts were directed at development and validation of a single score to reflect aspects of oral-motor and language proficiency when different, age-specific procedures must be used.

该项目建立在之前的一项研究的基础上，该研究确立了 基于以下分析的严重语音障碍的家族性 临床受影响的状态。 本研究旨在完善 通过检查发育音系障碍的表型 与语言障碍的共病和表型界限 阅读障碍。 它建议识别音韵学的子类型 疾病并检查每种亚型的遗传模式，同时 检查并考虑许多领域可能存在的性别差异 这些疾病。 此外，发育语音障碍 将与阅读障碍或阅读障碍进行比较 表型相似性和遗传模式。 有效性 家族史也能预测以后的学习问题 检查，以及测试电池测量值 学龄前儿童治疗结果的预测因素 音系问题。 这里的目标是确定以下方面 学龄前阶段的表现可以预测以后的言语和 语言技能、认知发展和学术成就 患有学龄前语音障碍的儿童。 强调所有这些 工作重点是对定量指标进行分析 言语、语言和阅读。 作为数据采集 阅读障碍家庭及其纵向随访措施 语音障碍家庭仍在进行中，分析活动 到目前为止，重点关注协变量调整和混合分析 最初的语音措施。 这些分析确定了 存在性别的影响，并且在较小程度上存在 这些措施的社会经济地位。 尽管使用 年龄特定标准，大多数措施都注意到年龄效应 经过考虑的。 某种程度上，这可能是由于缺乏 成年人口的可用人口数据，但具有补偿性 成年后的考试策略代表了另一种可能性。 针对这种现象的调整方法，例如标准化 目前正在考虑发展时期。 其他 努力的目的是开发和验证单一分数 反映口腔运动和语言能力的各个方面 必须使用不同的、针对特定年龄的程序。