Machine Learning, Large Language Models, and Multimodal AI for Diagnosing Pediatric Rare Diseases: Scoping Review

Jungang Zhao   ^{1, 2 *} , PhD ;   Jiawei Luo   ^{1, 2 *} , PhD ;   Qiu Li   ³ , PhD ;   Yaolong Chen   ^{1, 2, 4, 5} , MD, PhD

¹ Chevidence Lab Child & Adolescent Health, Department of Pediatric Research Institute, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Children and Adolescents' Health and Diseases, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China

² Chongqing Municipal Health Commission Key Laboratory of Children's Vital Organ Development and Diseases, Chongqing, China

³ Department of Nephrology, Children's Hospital of Chongqing Medical University, Chongqing, China

⁴ Research Unit of Evidence-Based Evaluation and Guidelines, Chinese Academy of Medical Sciences (2021RU017), School of Basic Medical Sciences, Lanzhou University, Lanzhou, China

⁵ WHO Collaborating Center for Guideline Implementation and Knowledge Translation, Lanzhou University, Lanzhou, China

*these authors contributed equally