Machine learning applications in craniosynostosis diagnosis and treatment prediction: a systematic review

Craniosynostosis refers to the premature fusion of one or more of the fibrous cranial sutures connecting the bones of the skull. Machine learning (ML) is an emerging technology and its application to craniosynostosis detection and management is underexplored. This systematic review aims to evaluate the application of ML techniques in the diagnosis, severity assessment, and predictive modeling of craniosynostosis. A comprehensive search was conducted on the PubMed and Google Scholar databases using predefined keywords related to craniosynostosis and ML. Inclusion criteria encompassed peer-reviewed studies in English that investigated ML algorithms in craniosynostosis diagnosis, severity assessment, or treatment outcome prediction. Three independent reviewers screened the search results, performed full-text assessments, and extracted data from selected studies using a standardized form. Thirteen studies met the inclusion criteria and were included in the review. Of the thirteen papers examined on the application of ML to the identification and treatment of craniosynostosis, two papers were dedicated to sagittal craniosynostosis, five papers utilized several different types of craniosynostosis in the training and testing of their ML models, and six papers were dedicated to metopic craniosynostosis. ML models demonstrated high accuracy in identifying different types of craniosynostosis and objectively quantifying severity using innovative metrics such as metopic severity score and cranial morphology deviation. The findings highlight the significant strides made in utilizing ML techniques for craniosynostosis diagnosis, severity assessment, and predictive modeling. Predictive modeling of treatment outcomes following surgical interventions showed promising results, aiding in personalized treatment strategies. Despite methodological diversities among studies, the collective evidence underscores ML’s transformative potential in revolutionizing craniosynostosis management.