Computer aided diagnosis of neurodevelopmental disorders and genetic syndromes based on facial images - A systematic literature review

Author(s)

de Barros, Fabio Rosindo Daher ; da Silva, Caio Novais F. ; Michelassi, Gabriel de Castro ; Brentani, Helena ; Nunes, Fatima L. S. ; Machado-Lima, Ariane

• Document type: Journal article
• Source: HELIYON; v. 9, n. 10, p. 19-pg., 2023-10-10.

Abstract

Neurodevelopment disorders can result in facial dysmorphisms. Therefore, the analysis of facial images using image processing and machine learning techniques can help construct systems for diagnosing genetic syndromes and neurodevelopmental disorders. The systems offer faster and cost-effective alternatives for genotyping tests, particularly when dealing with large-scale applications. However, there are still challenges to overcome to ensure the accuracy and reliability of computer-aided diagnosis systems. This article presents a systematic review of such initiatives, including 55 articles. The main aspects used to develop these diagnostic systems were discussed, namely datasets - availability, type of image, size, ethnicities and syndromes - types of facial features, techniques used for normalization, dimensionality reduction and classification, deep learning, as well as a discussion related to the main gaps, challenges and opportunities. (AU)

• FAPESP's process: 20/01992-0 - Computer aid system for the diagnosis of psychiatric disorders based on facial anthropometric measurements
• Grantee: Ariane Machado Lima
• Support Opportunities: Research Grants - eScience and Data Science Program - Regular Program Grants
• FAPESP's process: 22/08065-3 - Desenvolvimento de aplicativo para coleta de imagens faciais para o auxílio ao diagnóstico de transtornos do neurodesenvolvimento
• Grantee: Caio Novais Fernandes da Silva
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• FAPESP's process: 14/50889-7 - National Institute of Science and Technology Medicine Assisted by Scientific Computing (INCT-MACC)
• Grantee: José Eduardo Krieger
• Support Opportunities: Research Projects - Thematic Grants