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

描述(申请人提供)：头面部矮小症(CFM)是一种复杂的先天性疾病，与面部结构发育不全有关。这种情况经常与外耳、内耳和中耳、下颌、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的儿童听力损失、言语产生障碍、神经发育迟缓、学习和社会结果差以及行为适应不良的风险增加。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部疾病的儿童。然而，还没有对婴儿和学步儿童进行研究，也没有调查导致这些结果的具体机制。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。建议的研究包括一项对患有和不患有CFM的儿童进行的纵向队列研究。这项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导致确定更具体和有效的早期干预措施。这项建议概述了一项多中心的纵向队列研究，研究对象为125名患有CFM的婴儿和100名无颅面畸形的婴儿。参与者将在0-3岁之间接受一系列评估，以全面评估患有CFM的婴幼儿的发育状况。这项研究设计还将探索CFM可能导致某些结果的具体途径。具体地说，该提案探索了(1)面部不对称与情绪相关的面部运动和不良社会化之间的纵向关系；以及(2)耳朵畸形、听力和言语缺陷与神经行为结果之间的关联。这项研究的结果最终将导致未来的调查，评估新的干预措施和当前CFM儿童护理标准的相应变化。

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.