Preventing speech and language disorders in infants with classic galactosemia

项目摘要/摘要 这项研究调查了早期主动干预是否改善了患者的言语和语言结果 婴儿有沟通障碍的风险。言语和语言障碍是常见的，并造成高社交， 情感负担和教育负担。没有预防性治疗；评估和治疗是 通常要到2岁或3岁时才开始出现缺陷。婴儿典型的半乳糖血症(CG) 调查积极主动的方法的关键是它们不仅对汽车和 认知缺陷不仅是严重的言语和语言障碍的原因。因为CG是通过新生儿确诊的 通过筛选，可以利用已知的风险来评估是否主动支持收购 预习(2至12个月；咕咕，嘟嘟声)和早期语言(12至24个月；第一个单词，语音 习得、词汇增长、句子复杂性)可以减少与以下方面相关的沟通缺陷 CG。我们设计并推出了名为Babble Boot Camp(BBC)的主动式演讲/语言计划 患有CG的婴儿，年龄在2到24个月。初步结果与对言语和健康有益的效果一致 语言发展，但从一个小的试点队列推广是不可能的。拟议的研究增强了 通过在更大的CG队列中实施BBC并对其进行评估，来评估BBC的权力、范围和影响 使用和不使用CG的对照队列。一位儿科语音语言病理学家通过 家长培训。家长们了解到了学习前技能、言语和语言发展的典型里程碑， 延迟的潜在危险信号，重要的是，支持所有人的典型开发的活动和例程 计划的各个阶段，例如，刺激和强化喋喋不休，塑造第一个单词，以及建立 词汇和句子的复杂性。COO、BUBLE、演讲、语言和语言的纵向测量 使用自动化全天录音与信号处理软件相结合的环境 生成丰富、客观的数据矩阵。量化间接治疗效果、认知和质量的衡量标准 也收集了关于生命的信息。对言语、语言、认知和生活质量的正式测试是 术后24个月复查，36个月和48个月随访。使用多水平增长曲线模型，直接 (言语、语言)和间接(认知、生活质量)治疗效果将进行纵向评估和 通过三个队列中的群体比较。预期结果将显示主动服务有所改善 言语和语言结果，为改变临床管理的缺陷提供客观证据- 以主动服务为基础。对认知和生活质量的间接益处是可能的。结果将激励人们 在有其他言语和语言障碍风险类型的婴儿中测试积极主动的方法。这项研究有 有可能增进健康，减少与言语和语言障碍相关的疾病负担。它很合身 NIH通过开发和实施智力和发展性治疗获得高度优先的资金 有可能改善生活质量的障碍以及认知和行为表现。

Project Summary/Abstract This study investigates whether early, proactive intervention improves speech and language outcomes in infants at risk for communication disorders. Speech and language disorders are common and inflict high social, emotional, and educational burdens. Preventive treatments are not available; assessments and treatment are usually not initiated until ages 2 or 3 years when deficits manifest. Infants with classic galactosemia (CG) hold the key towards investigating proactive approaches because they are at high risk not only for motor and cognitive deficits but also for severe speech and language disorders. Because CG is diagnosed via newborn screening, the known risk can be leveraged to evaluate whether proactively supporting the acquisition of prespeech (2 to 12 months; cooing, babble) and early speech (12 to 24 months; first words, speech sound acquisition, vocabulary growth, sentence complexity) can reduce the communication deficits associated with CG. We designed and launched a proactive speech/language program called Babble Boot Camp (BBC) for infants with CG, ages 2 to 24 months. Initial results are consistent with a beneficial effect on speech and language development, but generalizing from a small pilot cohort is impossible. The proposed study enhances the power, scope, and impact of the BBC by implementing it in a larger CG cohort and evaluating it against control cohorts with and without CG. A pediatric speech-language pathologist implements the program via parent training. Parents learn about the typical milestones of prespeech, speech, and language development, potential red flags for delays, and importantly, activities and routines that support typical development for all stages of the program, for instance stimulating and reinforcing babble, shaping first words, and building vocabulary and sentence complexity. Longitudinal measures of coo, babble, speech, language, and linguistic environment using automatized daylong audio recordings in conjunction with signal processing software generate a rich, objective data matrix. To quantify indirect treatment effects, measures of cognition and quality of life are also collected. Formal testing of speech, language, cognition, and quality of life outcomes is performed at 24 months, with follow-up at 36 and 48 months. Using multilevel growth curve models, direct (speech, language) and indirect (cognition, quality of life) treatment effects will be evaluated longitudinally and through group comparisons in the three cohorts. Expected results will show that proactive services improve speech and language outcomes, providing objective evidence to change clinical management from deficit- based to proactive services. Indirect benefits for cognition and quality of life are possible. Results will motivate testing proactive approaches in infants with other risk types for speech and language disorders. This study has potential to enhance health and reduce disease burden associated with speech and language disorders. It fits a high NIH funding priority by developing and implementing treatment for intellectual and developmental disorders with the potential of improving quality of life and cognitive and behavioral manifestations.