Craniofacial microsomia: Accelerating Research and Education (CARE)

NIH RePORTER · NIH · R01 · $541,871 · view on reporter.nih.gov ↗

Abstract

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.

Key facts

NIH application ID
10149285
Project number
5R01DE029510-02
Recipient
SEATTLE CHILDREN'S HOSPITAL
Principal Investigator
Carrie Lyn Heike
Activity code
R01
Funding institute
NIH
Fiscal year
2021
Award amount
$541,871
Award type
5
Project period
2020-05-01 → 2025-02-28