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ORIGINAL RESEARCH article

Front. Public Health
Sec. Children and Health
Volume 12 - 2024 | doi: 10.3389/fpubh.2024.1373649
This article is part of the Research Topic Diagnosis and Identification of Novel Disorders and Ultra-Rare Disorders in Science and Clinical Routine View all 4 articles

Accelerating Rare Disease Detection: An Experience of Multidisciplinary Team Model in Undiagnosed Diseases Program in a children's hospital

Provisionally accepted
Yu Shi Yu Shi *Shijian Miao Shijian Miao Yuan Yuan Yuan Yuan Yang Fu Yang Fu Chengjun Sun Chengjun Sun Hongsheng Wang Hongsheng Wang Mengmeng Ge Mengmeng Ge Dongyun Li Dongyun Li Guomei Shen Guomei Shen Xuan Gao Xuan Gao Xiaowen Zhai Xiaowen Zhai
  • Children's Hospital, Fudan University, Shanghai, China

The final, formatted version of the article will be published soon.

    Background: A definite diagnosis goes undiscovered for a percentage of children with undiagnosed disorders, with significant medical, psychological, and social effects. Other than specialized clinical centers, exceptional molecular studies, common procedures, and devoted activities at the national and international levels, children with complex undiagnosed disorders require innovative approaches.In March 2016, Children's hospital of Fudan university represented the Children's Undiagnosed Diseases Program (UDP). The purpose of this study is to describe the project findings and underline the critical significance of multidisciplinary teamwork in China's undiagnosed rare illnesses program. We investigated the 758 cases in our UDP system retrospectively. Demographic information, laboratory test results, and genetic information were gathered.Results: Between January 2017 and December 2021, 758 cases were examined. Males made up 436 (57.5%) of the total. Over half of the patients were children under the age of five. The average patient course time preceding admission to UDP was 6.0 months (95% CI 10.512.6). These patients visited an average of 1.8 clinics during their diagnostic journey.Except for 69 individuals (90.9%), all had more than one presenting symptom in various organs: 460 (60.7%) had neurology difficulties, 151 (19.9%) had endocrine problems, and 141 (18.6%) had immunology problems. UDP has a diagnosis rate of 61.3%. Genetic testing was performed on 469 of the 758 patients, for a genetic diagnosis rate of 15.8%.The UDP method has a sensitivity of 94.5%, a specificity of 86.4%, a positive predictive value of 92.8%, and an negative predictive value of 89.5%.Our UDP targets an unmet need, namely the diagnosis of patients with complicated, multisystem illnesses. Using a multidisciplinary team model approach, this UDP pilot study achieved a reasonable diagnosis 3 success rate, increasing the possibility of more diagnoses and new scientific discoveries of difficult and rare diseases.

    Keywords: undiagnosed diseases, Undiagnosed disease program, multidisciplinary, China, Children

    Received: 20 Jan 2024; Accepted: 22 Aug 2024.

    Copyright: © 2024 Shi, Miao, Yuan, Fu, Sun, Wang, Ge, Li, Shen, Gao and Zhai. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Yu Shi, Children's Hospital, Fudan University, Shanghai, China

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.