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Algorithmic Fairness in Machine Learning Prediction of Autism Using Electronic Health Records.

Studies in health technology and informatics2025

Angell Amber M, Li Yongqiu, Bian Jiang, Parchment Camille, Yin Larry, Chamala Srikar, Hakimjavadi Hesamedin, Thompson Lindsay, Guo Yi

What this study means for families

Researchers studied whether computer programs used to identify autism from medical records work fairly for both boys and girls. They looked at over 280,000 children's records and found that these computer programs showed unfair differences between boys and girls. This is concerning because girls with autism are already often missed or diagnosed later than boys.

Summary by AutismInsights from published abstract. This is not a substitute for reading the original paper.

Research summary

This retrospective case-control study examined algorithmic fairness in machine learning models designed to predict autism spectrum disorder (ASD) diagnosis using electronic health records. The research included 70,803 children diagnosed with ASD and 212,409 matched controls without ASD. Researchers developed logistic regression and XGBoost models to predict ASD diagnosis and evaluated their performance using standard metrics. Crucially, they assessed fairness by examining model performance differences between boys and girls, calculating specific fairness metrics including equal opportunity and equalized odds.

The study revealed significant fairness issues in machine learning models for ASD prediction, highlighting sex-based disparities that could perpetuate existing diagnostic inequities in autism identification.

Summary by AutismInsights from published abstract. This is not a substitute for reading the original paper.

Key findings

  • 1

    Machine learning models for ASD prediction using electronic health records demonstrated significant fairness issues

    Confidence: moderateRelevance: High - indicates potential for perpetuating diagnostic disparities
  • 2

    Sex-based disparities were identified in model performance between boys and girls

    Confidence: moderateRelevance: High - could worsen existing gender bias in autism diagnosis

Summary by AutismInsights from published abstract. This is not a substitute for reading the original paper.

Clinical implications

These findings highlight critical concerns about implementing machine learning tools for autism identification without addressing algorithmic bias. Healthcare systems must ensure fairness testing before deploying such technologies to avoid exacerbating existing diagnostic disparities, particularly for girls with autism.

Summary by AutismInsights from published abstract. This is not a substitute for reading the original paper.

Limitations

The abstract does not specify the magnitude of fairness issues identified, the specific performance differences between demographic groups, or potential solutions. Study methodology details and generalizability to different healthcare systems are not described.

Summary by AutismInsights from published abstract. This is not a substitute for reading the original paper.

Original abstract

Efforts to improve early diagnosis of autism spectrum disorder (ASD) in children are beginning to use machine learning (ML) approaches applied to real-world clinical datasets, such as electronic health records (EHRs). However, sex-based disparities in ASD diagnosis highlight the need for fair prediction models that ensure equitable performance across demographic groups for ASD identification. This retrospective case-control study aimed to develop ML-based prediction models for ASD diagnosis using risk factors found in EHRs and assess their algorithmic fairness. The study cohorts included 70,803 children diagnosed with ASD and 212,409 matched controls without ASD.

We built logistic regression and Xgboost models and evaluated their performance using standard metrics, including accuracy, recall, precision, F1-score, and area under the curve (AUC). To assess fairness, we examined model performance by sex and calculated fairness-specific metrics, such as equal opportunity (recall parity) and equalized odds, to identify potential biases in model predictions between boys and girls. Our results revealed significant fairness issues in ML models for ASD prediction using EHRs.

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Evidence Grade

Emerging

limited

Grade assigned by AutismInsights based on study type and published abstract.

Study Details

Journal
Studies in health technology and informatics
Year
2025
PMID
40776043
DOI
10.3233/SHTI251025

MeSH Terms

HumansElectronic Health RecordsMachine LearningMaleFemaleRetrospective StudiesCase-Control StudiesChildAutism Spectrum DisorderAlgorithmsChild, Preschool