A Familial Study of Severe Phonology Disorders

描述（由申请人提供）：言语声音障碍（SSD）是儿童早期最常见的沟通障碍类型，通常会使个人面临日后学业困难的风险。尽管SSD的高患病率，有没有大的，纵向研究SSD从幼儿期延伸到青春期/青年期，以检查残留的语音/语言缺陷和教育/职业成就和行为调整的长期后果。目前的建议是一个持续20年的遗传学研究的SSD（严重语音障碍的家族研究; NIDCD授权号DC 000528），旨在验证已知基因的作用SSD和共病语言障碍（LI）和阅读障碍（RD）。该项目将利用由研究人员收集的SSD家庭的大型数据库，研究儿童早期SSD的长期结果以及使个人日后出现教育和行为问题的风险最大的因素。我们检查了275个儿童早期SSD的家庭，并跟踪了其中284名儿童到学龄。在本项目中，将在青春期/青年期重新评估样本的LI、RD和相关认知技能或与特定染色体区域相关的内表型。463个同胞对提供了DNA，我们对二元和数量性状进行了无模型遗传连锁分析。我们已经发现了语音处理与3 p12-q13和6p 22-p21.2，语音产生与15 q15-q21，言语短期记忆与1 p36和语言技能与1 p33-p32的联系的证据。这些连锁研究表明，潜在的基因影响SSD，RD和LI的行为和遗传重叠，我们测试的假设，神经表达的基因识别为阅读障碍也与SSD。适应功能，心理社会调整和教育/职业成就的措施也将被用来研究早期SSD在青春期/青年期的功能意义。这些结局将与儿童期是否存在共病LI、学龄早期SSD的持续与恢复、特定认知缺陷和遗传因素相关。这些因素的相互关系将在结构方程模型中进行研究。研究结果将揭示早期SDD患者易受影响的长期问题类型，确定风险因素，并确定青少年/青年干预措施的需求，以减少语言和成就方面的核心问题，并确保更有利的教育，职业和行为结果。言语声音障碍（SSD）在儿童中非常普遍，并且具有很高的个人和社会成本。超过一半的SSD儿童在语言，阅读和拼写方面遇到后期学习困难，并且经常需要其他类型的补救服务，其中50%-70%的儿童在12年级时表现出一般的学习困难。最近的证据表明，早期儿童SSD的残余影响可能是终身的。语言和识字在青少年/年轻人的独立运作中发挥作用。缺乏这种独立性会使个人和社会付出高昂的代价。沟通和信息技能和技术在工作场所的重要性将在未来继续增加;因此，有沟通障碍的人在这方面将处于不利地位。一个人未来的职业成功可以通过早期识别沟通障碍，建立其原因，并随后进行干预。很少有人知道的过渡到成年的个人与SSD的历史。该项目将提供所需的寿命数据，以确定早期SSD对该人群后期功能的全部意义，并确定影响青少年/年轻成人结局的因素。

DESCRIPTION (provided by applicant): Speech sound disorders (SSD) are the most prevalent type of communication disorder in early childhood and often place an individual at risk for later academic difficulties. Despite the high prevalence of SSD, there have been no large, longitudinal studies of SSD extending from early childhood into adolescence/young adulthood to examine residual speech/language deficits and long-term consequences for educational/vocational attainment and behavioral adjustment. The present proposal is a continuation of a 20 year genetic study of SSD (A Familial Study of Severe Phonology Disorders; NIDCD grant number DC000528) that seeks to validate the role of known genes for SSD and co-morbid language impairment (LI) and reading disorders (RD). This project will exploit the large database of families with SSD assembled by the investigators to examine long-term outcomes of early childhood SSD and factors that place individuals at greatest risk for later educational and behavioral problems. We have examined 275 families of children with early childhood SSD and followed 284 of these children to school age. In this project, the sample will be reassessed in adolescence/young adulthood on measures of LI, RD, and associated cognitive skills, or endophenotypes that have been linked to specific chromosome regions. DNA has been provided by 463 sibling pairs and we have conducted model-free genetic linkage analysis for binary and quantitative traits. We have found evidence for linkage of phonological processing to 3p12-q13 and 6p22-p21.2, speech sound production to 15q15-q21, verbal short-term memory to 1p36 and language skills to 1p33-p32. These linkage studies suggest that the underlying genes influence the behavioral and genetic overlap of SSD, RD, and LI and we test the hypothesis that neurally expressed genes identified for dyslexia are also associated with SSD. Measures of adaptive functioning, psychosocial adjustment and educational/vocational attainment will also be employed to examine the functional significance of early SSD in adolescence/young adulthood. These outcomes will be related to the presence or absence of co-morbid LI during childhood, persistent vs. recovery of SSD at early school age, specific cognitive deficits, and genetic factors. The interrelationships of these factors will be examined within a structural equation model. Findings will reveal the types of long-term problems to which individuals with early SDD are vulnerable, identify risk factors, and determine needs for adolescent/young adulthood interventions to reduce core problems in language and achievement and insure more favorable educational, vocational, and behavioral outcomes. PUBLIC HEALTH RELEVANCE Speech sound disorders (SSD) are highly prevalent in children and have high personal and societal costs. More than half of children with SSD encounter later academic difficulties in language, reading, and spelling and often require other types of remedial services, with 50%-70% exhibiting general academic difficulty through grade 12. Recent evidence suggests that the residual effects of an early childhood SSD may be life-long. Language and literacy play a role in independent functioning in the adolescent/young adult. Lack of such independence has a high personal and societal cost. The importance of communication and information skills and technologies in the work place will continue to increase in the future; and the individual who has a communication disorder will thus be at a disadvantage in this regard. An individual's future occupational success can be enhanced through the early identification of communication disorders, establishment of their causes, and subsequent intervention. Little is known of the transition into adulthood by the individual with a history of SSD. This project will provide life-span data that is needed to determine full significance of early SSD for the later functioning of this population and identify factors that influence adolescent/young adult outcomes.