CFM: Longitudinal Outcomes in Children pre-Kindergarten (CLOCK)

描述（由申请人提供）：颅面短小症（CFM）是一种复杂的先天性疾病，与面部结构发育不全有关。这种情况通常与外耳、内耳和中耳、下颌骨、软组织和面神经的畸形有关，导致不同程度的面部不对称。因此，患有CFM的儿童在听力损失、语言产生障碍、神经发育迟缓、学习和社交结果差以及行为不适应方面的风险较高。我们之前对患有CFM的学龄儿童的研究表明，患有CFM的儿童在神经心理和社会结果评估方面的表现不如没有颅面疾病的儿童。然而，没有对婴幼儿进行过研究，也没有对导致这些结果的具体机制进行过调查。我们研究联盟的长期目标是改善CFM儿童的神经发育、社会和行为结果。拟议的研究包括对患有和不患有CFM的儿童进行纵向队列研究。该研究计划的基本原理是，更好地了解CFM畸形对发育的直接和间接影响，将有助于确定更具体和有效的早期干预措施。本文概述了一项多中心、纵向队列研究，研究对象包括125名CFM婴儿和100名无颅面异常的婴儿。参与者将接受0-3岁的一系列评估，以全面评估婴幼儿CFM的发育状况。本研究设计还将探索CFM可能导致某些结果的具体途径。具体而言，本研究探讨了(1)面部不对称与情绪相关的面部运动和社会化不良之间的纵向关系；(2)耳部畸形、听力和语言缺陷与神经行为结果之间的关系。这项研究的结果将最终导致未来的调查，评估新的干预措施和相应的变化，目前的儿童CFM护理标准。

DESCRIPTION (provided by applicant): Craniofacial microsomia (CFM) is a complex, congenital condition associated with underdevelopment of the facial structures. This condition is frequently associated with malformations of the outer, inner and middle ear, mandible, soft tissue, and facial nerve, resulting in varying degrees of facial asymmetry. As a result, children with CFM have elevated risk of hearing loss, impaired speech production, neurodevelopmental delays, poor academic and social outcomes, and behavioral maladjustment. Our prior studies in school-age children with CFM demonstrate that children with CFM do not perform as well on neuropsychological and social outcome assessments as children without craniofacial conditions. However, no studies have been performed in infants and toddlers and nor have the specific mechanisms contributing to these outcomes been investigated. The long term goals of our research consortium are to improve neurodevelopmental, social, and behavioral outcomes for children with CFM. The proposed research includes a longitudinal cohort study in children with and without CFM. The rationale underlying the research plan is that better understanding of the direct and indirect effects of CFM malformations on development will lead to the identification of more specific and effective early interventions. This proposal outlines a multi-center, longitudinal cohort study of 125 infants with CFM and 100 infants without craniofacial anomalies. Participants will undergo a series of evaluations between ages 0-3 years of age to comprehensively evaluate the developmental status of infants and toddlers with CFM. This research design will also explore specific pathways by which CFM may lead to certain outcomes. Specifically, the proposal explores (1) the longitudinal relations between facial asymmetry and emotion-related facial movements and poor socialization; and (2) associations among ear malformations, hearing and speech deficits and neurobehavioral outcomes. Results of this research will ultimately lead to future investigations that assess new interventions and corresponding changes in current standards of care for children with CFM. PUBLIC HEALTH RELEVANCE: We propose to develop a research collaboration with five craniofacial centers to enroll 125 children with craniofacial microsomia. We will perform a longitudinal study to investigate developmental outcomes in children with craniofacial microsomia during the first 3 years of age, and evaluate the relationship between these outcomes and the severity of craniofacial asymmetry, as well as hearing. The results of this study will enable further research on the etiology and health care outcomes in patients with craniofacial disorders.