Clinical Project 2: Syndromic Craniosynostosis Treatment Approaches and Outcomes

ABSTRACT: CLINICAL PROJECT 2 Surgical treatment for syndromic craniosynostosis (CS) has advanced significantly over the last 2 decades, with several methods that have been developed to expand the cranial vault and to treat maxillofacial dysmorphologies. The different types of procedures performed at various centers, staged with different timing for the developing child, presents significant confusions for families dealing with syndromic CS treatment. The Advancing Craniosynostosis Treatment (ACT) Rare Diseases Consortium has been assembled to address this lack of standardization of care. Clinical Project 2 will carry out prospective multi-site observational study of 3 main surgical techniques used to treat syndromic CS: fronto-orbital advancement (FOA), posterior vault distraction osteogenesis (PVDO), and endoscopic strip craniectomy (ESC). surgical treatment variables for syndromic CS patients. This study tests the central hypothesis that treatment earlier in development with fewer operations for similar syndromic CS phenotypes will be associated with better patient function, appearance, and quality of life. Aim 1 will examine the index operation to address cranial vault volume. Aim 2 will examine the staged procedures to address midface form and function. Both aims will compare morphological outcomes, by using 2D/3D facial imaging, lateral cephalometry and computed tomography (CT) to quantify skeletal and soft tissue changes before and after surgical treatment. To assess neurocognitive development, Vineland Adaptive Behavior Scales, Conners Early Childhood Assessment and the NIH Toolbox will be used. To measure surgical burden and outcomes, we will assess the number and timing of revisionary FOAs, lengths of hospital stay, number of transfusions, number of readmissions, major infection, and other major complications. Both aims will leverage PEDSnet common data model to generate unaffected and non- syndromic cohort data as control. These investigations will deliver prospective objective data comparing common clinical endpoints across multiple sites. These studies will provide foundational rigorous data to enable future clinical trials, work toward clinically actionable recommendations, and inform evidence- based clinical practices, thereby advancing treatment and optimizing patient outcomes in syndromic CS patients and their families.