Craniofacial microsomia: Accelerating Research and Education (CARE)

项目摘要 颅面部巨大症是一种复杂的先天性疾病，大约影响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良，大多数 通常影响耳朵(如小耳垂)和下巴(如下颌发育不良)。有近一半的人患有 CFM也有颅外畸形，如心脏、肾脏或脊柱畸形。患有CFM的个人 有复杂的医疗保健需求，通常需要终生进行阶段性评估和(理想情况下)协调评估 和干预措施，以优化生长和营养、听力、神经发育、呼吸，并将 颅外畸形的影响。听力放大技术的最新进展 分散注意力和耳朵重建术有可能改善对个人健康至关重要的方面 CFM。然而，我们在整体医疗保健结果、医疗保健负担、 费用，以及患有CFM的个人和/或其照顾者的心理需求。患有CFM的个人有 很少被纳入定性研究，以探索他们独特的医疗体验。这项研究提出 建立一个由受CFM影响的个人、医疗保健提供者和倡导人员组成的国际社区 促进未来CFM研究的领导人。关于心理健康和心理健康的多角度数据 CFM患者及其照顾者在整个治疗过程中的医疗经历将是 收好了。研究小组提出了一种混合方法、多信息者和国际研究。这 将使用严格的方法来实现以下目标：验证心理学 通过采访160名CFM患者和/或他们的照顾者(AIM)，了解CFM的概念框架 1)；在800名受CFM影响的国际人口中确定心理痛苦的预测因素 (目标2)；评估目前的医疗保健规定在多大程度上解决了心理关切领域 目标1和目标2通过对60多名医疗保健专业人员和患者权益倡导者(AIM)的采访确定 3)；并为儿童基金会参与者和/或其照顾者建立一个登记册，以供今后研究(目标4)。这 该项目将提供一种评估心理健康和医疗保健体验的综合方法 患有CFM的个人和他们的照顾者。未来的研究将侧重于对具体干预措施的调查 以优化这一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.