Craniofacial microsomia: Accelerating Research and Education (CARE)

项目摘要 颅面矮小症（CFM）是一种复杂的先天性疾病，发病率约为1：3，500至1：5，600 活产与CFM相关的临床特征包括面部结构发育不全， 通常影响耳朵（如小耳畸形）和下颌（如下颌发育不全）。近一半的人 CFM也有颅外畸形，如心脏，肾脏或脊柱异常。CFM患者 有复杂的医疗保健需求，通常需要终生进行阶段性和（理想情况下）协调的评估 和干预措施，以优化生长和营养，听力，神经发育，呼吸，并尽量减少 颅外畸形的影响听力放大技术的最新进展，颌 分散注意力和耳朵重建有可能改善对患有 CFM。然而，我们对整体医疗保健结果、医疗保健负担、 成本，以及CFM患者和/或其照顾者的心理需求。患有CFM的人 很少被纳入定性研究，以探索他们独特的医疗保健经验。本研究提出 建立一个由受CFM影响的个人、医疗保健提供者和倡导者组成的国际社区 领导人，以促进未来的研究在CFM。有关心理健康的多角度数据， CFM患者及其护理人员在整个治疗途径中的医疗保健经验将 收集。研究小组提出了一个混合方法，多信息和国际研究。这 方法上严格的方法将用于实现以下目标：验证一个心理 通过对160名CFM患者和/或其照顾者的访谈，提出了CFM的概念框架（Aim 1）;在800名受CFM影响的国际人群中确定心理困扰的预测因素 (Aim 2）评估目前的医疗保健规定在多大程度上解决了心理问题 通过与60多名医疗保健专业人员和患者倡导者的访谈，确定了目标1和2（目标 3）;并为CFM参与者和/或其照顾者建立登记册，以供未来研究（目标4）。这 该项目将提供一个全面的方法来评估心理健康和医疗保健的经验 CFM患者和他们的照顾者。未来的研究将侧重于具体干预措施的调查 来优化这些弱势群体的心理健康

Project Summary Craniofacial microsomia (CFM) is a complex congenital condition that affects approximately 1:3,500 to 1:5,600 live births. Clinical features associated with CFM include underdevelopment of the facial structures, most commonly affecting the ear (e.g. microtia), and jaw (e.g. mandibular hypoplasia). Nearly half of individuals with CFM also have extra-cranial malformations, such as heart, kidney, or spine anomalies. Individuals with CFM have complex healthcare needs and often require a lifetime of staged and (ideally) coordinated evaluations and interventions to optimize growth and nutrition, hearing, neurodevelopment, breathing, and minimize the impact of extra-cranial malformations. Recent advances in techniques for hearing amplification, jaw distraction, and ear reconstruction have the potential to improve aspects of health important to individuals with CFM. However, we have large gaps in knowledge about holistic healthcare outcomes, burden of healthcare, cost, and the psychologic needs of individuals with CFM and/or their caregivers. Individuals with CFM have rarely been included in qualitative studies to explore their unique healthcare experiences. This study proposes to establish an international community of individuals affected by CFM, healthcare providers, and advocacy leaders to facilitate future research in CFM. Multi-perspective data pertaining to the psychological health and healthcare experiences of individuals with CFM and their caregivers across the treatment pathway will be collected. The study team proposes a mixed-methods multi-informant and international study. This methodologically rigorous approach will be used to achieve the following goals: validate a psychological conceptual framework for CFM through interviews with 160 individuals with CFM and/or their caregivers (Aim 1); identify predictors of psychological distress in an international population of 800 individuals affected by CFM (Aim 2); evaluate the extent to which current healthcare provisions address the areas of psychological concern identified in Aims 1 and 2 through interviews with over 60 healthcare professionals and patient advocates (Aim 3); and establish a registry for participants with CFM and/or their caregivers for future research (Aim 4). This project will provide a comprehensive approach for assessing psychological health and healthcare experiences of individuals with CFM and their caregivers. Future studies will focus on investigations of specific interventions to optimize psychologic health in this vulnerable population.