Early Autism Diagnosis: Machine Learning Models and Their Effectiveness

Author: Poonam Chaudhary, Anmol Bhatia, Vanshika Sangwan, Riya Saxena, Sanyam Virmani, Rahul . Journal of Instrumentation Technology & Innovations-STM Journals Issn: 2249-4731 Date: 2025-01-10 04:05 Volume: 14 Issue: 2 Keyword: Autism spectrum disorder (ASD), machine learning, modalities, Autism Diagnostic Observation Schedule (ADOS), XG Boost, precision, accuracy, confusion matrix, F1 score. Full Text PDF Submit Manuscript Journals

Abstract

Diagnosis is of utmost importance for timely intervention and support. However, traditional diagnosis methods, which are based on subjective assessment, are delayed. This project explores the role that machine learning techniques might play in enhancing the accuracy and effectiveness of autism spectrum disorder (ASD) detection. Several state-of-the-art classification algorithms were benchmarked using a dataset from Kaggle. Logistic regression, XG Boost, random forest, decision tree, and gradient boosting were taken into consideration. Other performance measures, in terms of accuracy, F1 -score, and precision, were considered. The results showed that XG Boost was the best model, because this one had the most precision and reliability of ASD prediction. The research signifies the potential of artificial intelligence AI and machine learning ML technologies for the betterment of the diagnostic process and provides a robust and timely tool for early detection of ASD. Conclusions and recommendations of the study strongly emphasize the necessity of approaches that integrate multidisciplinary and ethical considerations for responsible translation into clinical practice.

Keyword: Autism spectrum disorder (ASD), machine learning, modalities, Autism Diagnostic Observation Schedule (ADOS), XG Boost, precision, accuracy, confusion matrix, F1 score.

Refrences:

  1. Bone D, Bishop S, Black MP, Goodwin MS, Lord C. Use of machine learning to improve autism
    screening and diagnostic instruments: effectiveness, efficiency, and multi-instrument fusion. J
    Child Psychol Psychiatry. 2016; 57 (8): 927–937.
  2. Heinsfeld AS, Franco AR, Craddock RC, Buchweitz A, Meneguzzi F. Identification of autism
    spectrum disorder using deep learning and the ABIDE dataset. NeuroImage: Clinical. 2018; 17: 16–
    23.
  3. Thabtah F, Peebles D, Seker H. A machine learning autism classification based on logistic
    regression analysis. Health Inform Sci Syst. 2020; 8 (1): 1–9.
  4. Duda M, Ma R, Haber N, Wall DP. Use of machine learning for behavioral distinction of autism and ADHD. Transl Psychiatry. 2016; 6 (2): e732.
  5. Li M, Dai Z, Wang M, He L, Huang H, Zheng H. Predicting autism spectrum disorder based on
    multi-site MRI, clinical, and demographic data: a multisite machine learning study. Mol Psychiatry.
    2019; 24 (10): 1599–1605.
  6. Chen CP, Keown CL, Jahedi A, Muller RA. Deep learning in autism diagnosis and biomarker
    discovery. J Autism Dev Disord. 2015; 45 (4): 1123–1136.
  7. Yechiam E, Arshavsky O, Shamay-Tsoory SG, Yaniv S, Aharon J. Adapted to explore:
    reinforcement learning in autistic spectrum conditions. Brain Cognit. 2010; 72 (2): 317–324.
  8. Chen Q, Chen X, Zhang Y, Ma Q. Deep learning for neuroimaging-based diagnosis and
    rehabilitation of autism spectrum disorder: a review. Front Neurosci. 2020; 14: 1007.
  9. Guang S, Pang N, Deng X, Yang L, He F, Wu L, Chen C, Yin F, Peng J. Synaptopathology involved
    in autism spectrum disorder. Front Cell Neurosci. 2018; 12: 470.
  10. Abraham A, Milham MP, Di Martino A, Craddock RC, Samaras D, Thirion B, Varoquaux G.
    Deriving reproducible biomarkers from multi-site resting-state data: an autism-based example.
    NeuroImage. 2017; 147: 736–745.
  11. Lundberg SM, Erion GG, Lee SI. Consistent individualized feature attribution for tree ensembles.
    Nat Mach Intell. 2020; 2 (5): 252–260.
  12. Chen X, Huang Q, Shi L, He Y, Li YX. Associations between gut microbiota and autism spectrum
    disorder: a systematic review and meta-analysis. PLoS One. 2019; 14 (9): e0222907.
  13. Hyman SL, Levy SE, Myers SM; Council on Children With Disabilities, Section on Developmental
    and Behavioral Pediatrics. Identification, evaluation, and management of children with autism
    spectrum disorder. Pediatrics. 2020; 145 (1): e20193447.
  14. Lord C, Cook EH, Leventhal BL, Amaral DG. Autism spectrum disorders review. Neuron. 2000;
    28 (2): 355–363.
  15. Hazlett HC, Gu H, Munsell BC, Kim SH, Styner M, Wolff JJ, Piven J. Early brain development in
    infants at high risk for autism spectrum disorder. Nature. 2017; 542 (7641): 348–351.
  16. Khosla M, Jamison K, Ngo GH, Kuceyeski A, Sabuncu MR. Machine learning in resting-state fMRI
    analysis. Magn Reson Imaging. 2019; 64: 101–121.
  17. Kuwabara H, Lu J, Lim L, Irie H, Lopez PT. Machine learning approaches for predicting autism
    spectrum disorder diagnosis using facial imaging features. J Child Psychol Psychiatry. 2016; 57
    (8): 927–937.
  18. Vabalas A, Gowen E, Poliakoff E, Casson AJ. Machine learning algorithm validation with a limited
    sample size. PLoS One. 2019; 14 (11): e0224365.
  19. Shaw KA, Maenner MJ, Bakian AV, et al. Early identification of autism spectrum disorder among
    children aged 4 years — Early Autism and Developmental Disabilities Monitoring Network, six
    sites, United States, 2016. MMWR Surveill Summ. 2021; 70 (10): 1–14.
  20. van’t Hof M, Tisseur C, van Berckelear-Onnes I, van Nieuwenhuyzen A, Daniels AM, Deen M,
    Hoek HW, Ester WA. Age at autism spectrum disorder diagnosis: a systematic review and metaanalysis from 2012 to 2019. Autism. 2021; 25 (4): 862–973.
  21. Bi X, Wang Z, Yang Y, Gao Y, Xu Y. A multi-feature learning model for early autism spectrum
    disorder diagnosis based on structural and functional MRI. Front Neurosci. 2018; 12: 707.
  22. Hyman SL, Levy SE, Myers SM; Council on Children With Disabilities, Section on Developmental
    and Behavioral Pediatrics. Identification, evaluation, and management of children with autism
    spectrum disorder. Pediatrics. 2020; 145 (1): e20193447.
  23. Thabtah F. Machine learning in autism spectrum disorder behavioral research: a review and ways
    forward. Inform Health Soc Care. 2019; 44 (3): 278–297.
  24. Kelley JE, Barrio BL, Cardon TA, Brando-Subis C, Lee S, Smith K. DSM-5 autism spectrum
    disorder symptomology in award-winning narrative fiction. Educ Train Autism Dev Disabil.
    2018;53:115-27.
  25. Frye RE, Rossignol D, Casanova MF, Brown GL, Martin V, Edelson S, et al. A review of traditional
    and novel treatments for seizures in autism spectrum disorder: Findings from a systematic review
    and expert panel. Front Public Health. 2013;1:31. DOI: 10.3389/fpubh.2013.00031. PMID: 24350200.
  26. Pensado-López A, Veiga-Rúa S, Carracedo Á, Allegue C, Sánchez L. Experimental models to study
    autism spectrum disorders: hiPSCs, rodents and zebrafish. Genes. 2020;11:1376. DOI:
    10.3390/genes11111376. PMID: 33233737.
  27. Hyman SL, Levy SE, Myers SM, Kuo DZ, Apkon S, Davidson LF, et al. Identification, evaluation,
    and management of children with autism spectrum disorder. Pediatrics. 2020;145. DOI:
    10.1542/peds.2019-3447. PMID: 31843864.
  28. Marbaniang P, Patil I, Lokanathan M, Parse H, Catherin Sesu D, Ingavale S, et al. Nanorice-like
    structure of carbon-doped hexagonal boron nitride as an efficient metal-free catalyst for oxygen
    electroreduction. ACS Sustain Chem Eng. 2018;6:11115-22. DOI:
    10.1021/acssuschemeng.8b02609.
  29. Guang S, Pang N, Deng X, Yang L, He F, Wu L, et al. Synaptopathology involved in autism
    spectrum disorder. Front Cell Neurosci. 2018;12:470. DOI: 10.3389/fncel.2018.00470. PMID:
    30627085.
  30. Scott-Van Zeeland AA, McNealy K, Wang AT, Sigman M, Bookheimer SY, Dapretto M. No neural
    evidence of statistical learning during exposure to artificial languages in children with autism
    spectrum disorders. Biol Psychiatry. 2010;68:345-51. DOI: 10.1016/j.biopsych.2010.01.011.
    PMID: 20303070.
  31. Prince M, Patel V, Saxena S, Maj M, Maselko J, Phillips MR, et al. No health without mental health.
    Lancet. 2007;370:859-77. DOI: 10.1016/S0140-6736(07)61238-0. PMID: 17804063.
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