Aprendizaje automático en el diagnóstico médico. Un caso de estudio en la identificación del Trastorno del Espectro Autista a partir del comportamiento ocular

  1. Chávez-Trujillo, Roberto 1
  2. Aguilar, Rosa M. 1
  3. González-Mora, José Luis 1
  1. 1 Universidad de La Laguna
    info

    Universidad de La Laguna

    San Cristobal de La Laguna, España

    ROR https://ror.org/01r9z8p25

Revista:
Revista iberoamericana de automática e informática industrial ( RIAI )

ISSN: 1697-7920

Año de publicación: 2024

Volumen: 21

Número: 3

Páginas: 205-217

Tipo: Artículo

DOI: 10.4995/RIAI.2024.20484 DIALNET GOOGLE SCHOLAR lock_openAcceso abierto editor

Otras publicaciones en: Revista iberoamericana de automática e informática industrial ( RIAI )

Resumen

A pesar de los avances recientes, el diagnóstico del autismo sigue siendo un desafío complejo debido a la necesidad de recursos médicos especializados, tiempo y materiales. Esto a menudo resulta en diagnósticos tardíos, incluso en la edad adulta, dificultando las intervenciones efectivas. Por otro lado, el campo de la inteligencia artificial y el aprendizaje automático ha experimentado un notable progreso. Estas técnicas han abierto nuevas oportunidades entre otras muchas áreas, en el diagnóstico médico, incluyendo el Trastorno del Espectro Autista (TEA). El objetivo principal de este artículo es ofrecer una visión general de la aplicabilidad de las técnicas de aprendizaje automático en el diagnóstico médico, a través de un caso de uso específico en el TEA. Se ha desarrollado un modelo de clasificación basado en el algoritmo XGBoost, que logra una sensibilidad del 82 % y una especificidad del 74 % al clasificar muestras individuales. Además, al combinar este modelo con un algoritmo de votación por mayoría, se obtienen unos muy destacados resultados de clasificación en el conjunto de pruebas.

Referencias bibliográficas

  • Abrahams, B. S., Geschwind, D. H., may 2008. Advances in autism genetics: on the threshold of a new neurobiology. Nature Reviews Genetics 9 (5), 341-355. https://doi.org/10.1038/nrg2346
  • American Psychiatric Association, May 2013. Diagnostic and Statistical Manual of Mental Disorders (5th ed.), 5th Edition. American Psychiatric Association. https://doi.org/10.1176/appi.books.9780890425596
  • Bishop, C.M., 2019. Pattern recognition and machine learning. InformationScience and Statistics. Springer Science+Business Media, LLC, New York, NY.
  • Cassisi, C., Montalto, P., Aliotta, M., Cannata, A., Pulvirenti, A., 2012. Similarity measures and dimensionality reduction techniques for time series data mining. In: Karahoca, A. (Ed.), Advances in Data Mining Knowledge Discovery and Applications. IntechOpen, Rijeka, Ch. 3. https://doi.org/10.5772/49941
  • Centers for Disease Control and Prevention, CDC, Sep. 2020. Data & statistics on autism spectrum disorder. https://www.cdc.gov/ncbddd/autism/data.html.
  • Chawarska, K., Macari, S., Shic, F., Aug. 2013. Decreased Spontaneous Attention to Social Scenes in 6-Month-Old Infants Later Diagnosed with Autism Spectrum Disorders. Biological Psychiatry 74 (3), 195-203. https://doi.org/10.1016/j.biopsych.2012.11.022
  • Chen, T., Guestrin, C., aug 2016. XGBoost: A Scalable Tree Boosting System. Proceedings of the 22nd ACM SIGKDD International Conference on Knowledge Discovery and Data Mining. https://doi.org/10.1145/2939672.2939785
  • Cristino, F., Mathot, S., Theeuwes, J., Gilchrist, I. D., Aug. 2010. Scan- ˆMatch: A novel method for comparing fixation sequences. Behavior Research Methods 42 (3), 692-700. https://doi.org/10.3758/BRM.42.3.692
  • D. Nevison Cynthia, sep 2014. A comparison of temporal trends in United States autism prevalence to trends in suspected environmental factors. Environmental Health 13 (1). https://doi.org/10.1186/1476-069X-13-73
  • Day, R., nov 2010. Examining the validity of the needleman-wunsch algorithm in identifying decision strategy with eye-movement data. Decision Support Systems 49 (4), 396-403. URL: https://www.sciencedirect.com/science/article/pii/S0167923610000904 https://doi.org/10.1016/j.dss.2010.05.001
  • Friedman, J. H., 2001. Greedy function approximation: A gradient boosting machine. The Annals of Statistics 29 (5), 1189 - 1232. https://doi.org/10.1214/aos/1013203451
  • Geller, S., Apr. 2019. Normalization vs Standardization: Quantitative analysis. https://towardsdatascience.com/normalizationvstandardization-quantitative-analysis-a91e8a79cebf, accessed: 23-04-2021.
  • Goodfellow, I., Bengio, Y., Courville, A., 2016. Deep Learning. MIT Press, http://www.deeplearningbook.org
  • Goshtasby, A. A., 2012. Similarity and Dissimilarity Measures. Springer London, London, Ch. Chapter 2, pp. 7-66. https://doi.org/10.1007/978-1-4471-2458-0_2
  • Hannah Furfaro, Spectrum, May 2019. Gaze patterns in toddlers may predict autism. https://www.spectrumnews.org/news/gaze-patternstoddlers-may-predict-autism/, accessed: 23-03-2020.
  • Hughes, V., Spectrum, Sep. 2008. Eyes provide insight into autism's origins. https://www.spectrumnews.org/news/eyes-provide-insightinto-autisms-origins/, accesed: 2020-04-23.
  • Jiang, M., Zhao, Q., Oct. 2017. Learning visual attention to identify people withautism spectrum disorder. In: 2017 IEEE International Conference on Com-puter Vision (ICCV). IEEE, pp. 3287-3296. https://doi.org/10.1109/ICCV.2017.354
  • Jones, W., Klin, A., Nov. 2013. Attention to eyes is present but in decline in 2-6-month-old infants later diagnosed with autism. Nature 504 (7480), 427-431. https://doi.org/10.1038/nature12715
  • Kaltenbach, H., 2011. A Concise Guide to Statistics. SpringerBriefs in Statistics. Springer Berlin Heidelberg. URL: https://books.google.es/books?id=2L8xNcbRvYgC
  • LeCun, Y., Bengio, Y., Hinton, G., May 2015. Deep learning. Nature521 (7553), 436-444. https://doi.org/10.1038/nature14539
  • Libbey, J., Sweeten, T., McMahon, W., Fujinami, R., feb 2005. Autistic disorder and viral infections. Journal of NeuroVirology 11 (1), 1-10. https://doi.org/10.1080/13550280590900553
  • Liu, W., Yu, X., Raj, B., Yi, L., Zou, X., Li, M., Sep. 2015. Efficient autismspectrum disorder prediction with eye movement: A machine learning fra-mework. In: 2015 International Conference on Affective Computing and In-telligent Interaction (ACII). IEEE, pp. 649-655. https://doi.org/10.1109/ACII.2015.7344638
  • Lopez, V., Fernández, A., García, S., Palade, V., Herrera, F., nov 2013. An insight into classification with imbalanced data: Empirical results and current trends on using data intrinsic characteristics. Information Sciences 250, 113-141. https://doi.org/10.1016/j.ins.2013.07.007
  • Maenner, M. J., Shaw, K. A., Jon Baio, e., mar 2020. Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years - Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2016. MMWR. CDC Surveillance Summaries 69 (4), 1-12. https://doi.org/10.15585/mmwr.ss6904a1
  • Mendelsohn, N. J., Schaefer, G. B., mar 2008. Genetic evaluation of autism.Seminars in Pediatric Neurology 15 (1), 27-31. https://doi.org/10.1016/j.spen.2008.01.005
  • Needleman, S. B., Wunsch, C. D., 1970. A general method applicable to the search for similarities in the amino acid sequence of two proteins. Journal of Molecular Biology 48 (3), 443-453. URL: https://www.sciencedirect.com/science/article/pii/0022283670900574 https://doi.org/10.1016/0022-2836(70)90057-4
  • Nguyen, Q. H., Ly, H.-B., Ho, L. S., Al-Ansari, N., Le, H. V., Tran, V. Q., Prakash, I., Pham, B. T., feb 2021. Influence of data splitting on performance of machine learning models in prediction of shear strength of soil. Mathematical Problems in Engineering 2021, 1-15. https://doi.org/10.1155/2021/4832864
  • Preeti, K., Srinath, S., Shekhar, P. S., Satish, C. G., Kommu, J. V. S., Feb. 2017. Lost time: Need for more awareness in early intervention of autism spectrum disorder. Asian Journal of Psychiatry 25, 13-15. https://doi.org/10.1016/j.ajp.2016.07.021
  • Raschka, S., Jul. 2014. About feature scaling and normalization and the effect of standardization for machine learning algorithms. https://sebastianraschka.com/Articles/2014_about_feature_scaling.html, accessed: 23-04-2021.
  • Rosen, N. E., Lord, C., Volkmar, F. R., Feb. 2021. The diagnosis of autism:From kanner to dsm-iii to dsm-5 and beyond. Journal of Autism and Deve-lopmental Disorders 51 (12), 4253-4270. https://doi.org/10.1007/s10803-021-04904-1
  • Schmidhuber, J., Jan. 2015. Deep learning in neural networks: An overview.Neural Networks 61, 85-117. https://doi.org/10.1016/j.neunet.2014.09.003
  • Schmitt, L. M., Cook, E. H., Sweeney, J. A., Mosconi, M. W., 2014. Saccadic eye movement abnormalities in autism spectrum disorder indicate dysfunctions in cerebellum and brainstem. Molecular Autism 5 (1), 47. https://doi.org/10.1186/2040-2392-5-47
  • Seger, C., 2018. An investigation of categorical variable encoding techniques in machine learning: binary versus one-hot and feature hashing. Ph.D. thesis, KTH, School of Electrical Engineering and Computer Science (EECS).
  • Tanaka, J. W., Sung, A., Oct. 2013. The "eye avoidance" hypothesis of autism face processing. Journal of Autism and Developmental Disorders 46 (5), 1538-1552. https://doi.org/10.1007/s10803-013-1976-7
  • Vabalas, A., Gowen, E., Poliakoff, E., Casson, A. J., nov 2019. Machine learning algorithm validation with a limited sample size. PLOS ONE 14 (11), e0224365. https://doi.org/10.1371/journal.pone.0224365
  • Wang, S., Jiang, M., Duchesne, X. M., Laugeson, E. A., Kennedy, D. P.,Adolphs, R., Zhao, Q., Nov. 2015. Atypical Visual Saliency in AutismSpectrum Disorder Quantified through Model-Based Eye Tracking. Neuron 88 (3), 604-616. https://doi.org/10.1016/j.neuron.2015.09.042
  • Wei, Q., Cao, H., Shi, Y., Xu, X., Li, T., Jan. 2023. Machine learning based oneye-tracking data to identify autism spectrum disorder: A systematic reviewand meta-analysis. Journal of Biomedical Informatics 137, 104254. https://doi.org/10.1016/j.jbi.2022.104254
  • Xu, G., Jing, J., Bowers, K., Liu, B., Bao, W., sep 2013. Maternal diabetes and the risk of autism spectrum disorders in the offspring: A systematic review and meta-analysis. Journal of Autism and Developmental Disorders 44 (4), 766-775. https://doi.org/10.1007/s10803-013-1928-2
  • Zwaigenbaum, L., Bryson, S., Rogers, T., Roberts, W., Brian, J., Szatmari, P., Jun. 2004. Behavioral manifestations of autism in the first year of life. International Journal of Developmental Neuroscience 23 (2-3), 143-152. https://doi.org/10.1016/j.ijdevneu.2004.05.001