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一种用于小儿软骨发育不全自动生长监测的人工智能辅助工具。

An AI-assisted tool for automated growth monitoring in pediatric achondroplasia.

作者信息

Cohen-Sela Eyal, Lebenthal Yael, Brener Avivit, Regev Ravit, Hagenäs Lars

机构信息

The Institute of Pediatric Endocrinology, Diabetes and Metabolism, Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center, 64239-06, Tel Aviv, Israel.

The School of Medicine, Gray Faculty of Medical & Health Sciences, Tel Aviv University, Tel Aviv, Israel.

出版信息

Eur J Pediatr. 2025 Jul 18;184(8):490. doi: 10.1007/s00431-025-06321-3.

DOI:10.1007/s00431-025-06321-3
PMID:40679562
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12274215/
Abstract

UNLABELLED

Growth assessment in achondroplasia requires disorder-specific growth charts incorporating sex- and age-specific values. Manual calculations are tedious and subject to error. We present an artificial intelligence (AI)-assisted tool that automates z-score calculations for pediatric patients with achondroplasia. The tool integrates European Lambda-Mu-Sigma (LMS) growth reference data for 9 anthropometric parameters: height, weight, body mass index, head circumference, sitting height, leg length, arm span, relative sitting height, and foot length. It inputs anthropometric measurements and transforms them into sex- and age-specific z-scores and percentiles in real time. Ten pediatric endocrinologists independently calculated anthropometric z-scores for 3 patients with achondroplasia using both the manual growth charts and the automated tool. Time-to-completion and accuracy were recorded and compared. The mean time required by the AI-assisted tool to calculate z-scores for all 9 parameters was significantly shorter than that required by manual calculation (23.4 ± 5.8 vs. 10.1 ± 2.8 min, p < 0.001). The tool demonstrated 100% agreement with manual LMS-based calculations and eliminated human errors to which manual calculations are subject, with significantly higher median absolute z-score deviation compared to the smart tool (0.17 [0.07-0.30] vs. 0 [0-0.01], p < 0.001).

CONCLUSION

This AI-assisted tool provides a user-friendly, accessible, and highly accurate method for automated growth assessment in pediatric achondroplasia. It facilitates efficient clinical and research applications, with potential for future integration into electronic health records and web-based platforms.

WHAT IS KNOWN

•Growth monitoring in achondroplasia requires syndrome-specific Lambda-Mu-Sigma based charts. •Manual z-score calculations are time-consuming and subject to error.

WHAT IS NEW

•We present an AI-assisted Excel tool that automates z-scores and percentile calculations for 9 anthropometric parameters. •Performance and inter-user reliability testing by 10 pediatric endocrinologists showed significantly improved speed and accuracy over manual methods.

摘要

未标注

软骨发育不全的生长评估需要特定疾病的生长图表,其中包含性别和年龄特异性值。手动计算繁琐且容易出错。我们展示了一种人工智能(AI)辅助工具,可自动为软骨发育不全的儿科患者计算z评分。该工具整合了9个人体测量参数的欧洲Lambda-Mu-Sigma(LMS)生长参考数据:身高、体重、体重指数、头围、坐高、腿长、臂展、相对坐高和足长。它输入人体测量数据,并实时将其转换为性别和年龄特异性的z评分和百分位数。十位儿科内分泌学家使用手动生长图表和自动化工具分别为3名软骨发育不全患者独立计算人体测量z评分。记录并比较完成时间和准确性。AI辅助工具计算所有9个参数的z评分所需的平均时间明显短于手动计算所需的时间(23.4±5.8分钟对10.1±2.8分钟,p<0.001)。该工具与基于LMS的手动计算显示出100%的一致性,并消除了手动计算易出现的人为误差,与智能工具相比,中位绝对z评分偏差明显更高(0.17[0.07 - 0.30]对0[0 - 0.01],p<0.001)。

结论

这种AI辅助工具为儿科软骨发育不全的自动生长评估提供了一种用户友好、易于使用且高度准确的方法。它有助于高效的临床和研究应用,未来有可能集成到电子健康记录和基于网络的平台中。

已知信息

•软骨发育不全的生长监测需要基于特定综合征的Lambda-Mu-Sigma图表。

•手动z评分计算耗时且容易出错。

新内容

•我们展示了一种AI辅助的Excel工具,可自动计算9个人体测量参数的z评分和百分位数。

•10位儿科内分泌学家进行的性能和用户间可靠性测试表明,与手动方法相比,速度和准确性有显著提高。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3693/12274215/88fc9dc561fe/431_2025_6321_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3693/12274215/88fc9dc561fe/431_2025_6321_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3693/12274215/88fc9dc561fe/431_2025_6321_Fig1_HTML.jpg

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本文引用的文献

1
Approach to the Patient with Achondroplasia-New Considerations for Diagnosis, Management, and Treatment.软骨发育不全患者的诊疗方法——诊断、管理及治疗的新思考
J Clin Endocrinol Metab. 2025 Jun 17;110(7):e2309-e2316. doi: 10.1210/clinem/dgaf017.
2
International consensus guidelines on the implementation and monitoring of vosoritide therapy in individuals with achondroplasia.关于在软骨发育不全个体中实施和监测维索利肽治疗的国际共识指南。
Nat Rev Endocrinol. 2025 May;21(5):314-324. doi: 10.1038/s41574-024-01074-9. Epub 2025 Jan 6.
3
ChatGPT and Generative Artificial Intelligence for Medical Education: Potential Impact and Opportunity.
ChatGPT 和生成式人工智能在医学教育中的应用:潜在影响与机遇。
Acad Med. 2024 Jan 1;99(1):22-27. doi: 10.1097/ACM.0000000000005439. Epub 2023 Aug 31.
4
Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study-a multi-center retrospective cohort study of achondroplasia in the US.成骨不全症的生长情况,包括身高、体重、体重身高比和头围:CLARITY:成骨不全症自然史研究——美国多中心回顾性队列研究成骨不全症。
Orphanet J Rare Dis. 2021 Dec 23;16(1):522. doi: 10.1186/s13023-021-02141-4.
5
Privacy protections to encourage use of health-relevant digital data in a learning health system.隐私保护措施,以鼓励在学习型健康系统中使用与健康相关的数字数据。
NPJ Digit Med. 2021 Jan 4;4(1):2. doi: 10.1038/s41746-020-00362-8.
6
Clinical charts for surveillance of growth and body proportion development in achondroplasia and examples of their use.临床图表用于监测软骨发育不全患者的生长和身体比例发育及其使用示例。
Am J Med Genet A. 2021 Feb;185(2):401-412. doi: 10.1002/ajmg.a.61974. Epub 2020 Nov 21.
7
Development of body proportions in achondroplasia: Sitting height, leg length, arm span, and foot length.软骨发育不全患者身体比例的发育:坐高、腿长、臂展和足长。
Am J Med Genet A. 2018 Sep;176(9):1819-1829. doi: 10.1002/ajmg.a.40356. Epub 2018 Aug 27.
8
Growth in achondroplasia: Development of height, weight, head circumference, and body mass index in a European cohort.软骨发育不全的生长情况:欧洲队列中身高、体重、头围和体重指数的发育情况
Am J Med Genet A. 2018 Aug;176(8):1723-1734. doi: 10.1002/ajmg.a.38853. Epub 2018 Aug 2.
9
Leg length, sitting height, and body proportions references for achondroplasia: New tools for monitoring growth.软骨发育不全的腿长、坐高和身体比例参考标准:监测生长的新工具。
Am J Med Genet A. 2018 Apr;176(4):896-906. doi: 10.1002/ajmg.a.38633. Epub 2018 Feb 9.
10
Growth charts for Australian children with achondroplasia.澳大利亚软骨发育不全儿童的生长图表。
Am J Med Genet A. 2017 Aug;173(8):2189-2200. doi: 10.1002/ajmg.a.38312. Epub 2017 Jun 9.