Preventing speech and language disorders in infants with classic galactosemia

项目总结/摘要 这项研究调查了早期积极干预是否能改善儿童的言语和语言结果。 有沟通障碍风险的婴儿。言语和语言障碍是常见的， 情感和教育负担。预防性治疗不可用;评估和治疗 通常要到2或3岁时出现缺陷时才开始。典型半乳糖血症（CG）婴儿 研究积极主动的方法的关键，因为它们不仅对运动， 认知缺陷也适用于严重的言语和语言障碍。因为CG是通过新生儿 通过筛选，可以利用已知风险来评估是否主动支持收购 说话前（2至12个月;咕咕叫，牙牙学语）和早期语言（12至24个月;第一个词，语音 习得，词汇量增长，句子复杂性）可以减少与 CG。我们设计并推出了一个名为Babble靴子Camp（BBC）的前瞻性演讲/语言计划， CG婴儿，年龄2至24个月。初步结果与对语言的有益影响一致， 语言发展，但从一个小试点群体推广是不可能的。拟议的研究加强了 通过在更大的CG队列中实施BBC，并根据 有和没有CG的对照组。一名儿科语言病理学家通过以下方式实施该计划： 家长培训家长们了解了学前、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，支持所有人典型发展的活动和例程 该计划的阶段，例如刺激和加强牙牙学语，塑造第一个单词，并建立 词汇和句子的复杂性。对coo、牙牙学语、言语、语言和语言学的纵向测量 结合信号处理软件使用自动化全天音频记录的环境 生成丰富、客观的数据矩阵。量化间接治疗效果、认知和质量指标 生活也被收集起来。对言语、语言、认知和生活质量结果的正式测试是 在24个月时进行，在36个月和48个月时进行随访。使用多级增长曲线模型，直接 将纵向评价（言语、语言）和间接（认知、生活质量）治疗效果， 通过三个队列的组间比较。预期结果将表明，主动服务得到改善 言语和语言结果，提供客观证据，改变临床管理从赤字- 基于主动服务。对认知和生活质量的间接好处是可能的。结果将激励 在患有其他言语和语言障碍风险类型的婴儿中测试主动方法。本研究 提高健康和减少与言语和语言障碍相关的疾病负担的潜力。它适合 通过开发和实施智力和发展的治疗， 具有改善生活质量以及认知和行为表现潜力的疾病。

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.