Skip to main content
Log in

Diagnosis of Autism Spectrum Disorder: A Review of Three Focused Interventions

  • Review Article
  • Published:
SN Computer Science Aims and scope Submit manuscript

Abstract

Autism is a neurological developmental disorder that impacts a person’s physical, social, and emotional behavior. This disorder develops over time and is characterized by social deficits and repetitive behavior. Although there is no cure for this disorder, an early diagnosis and intervention can do significant wonders and can help the subject to become active functioning members of the family and society. The aim of this study is to minimize the diagnostic period by finding an optimal diagnosis procedure from the existing diagnosis tools. The diagnosis of autism can be done in three ways: 1. clinical evaluation; 2. screening tools; 3. brain images. In this review paper, we have thoroughly gone through all three types of diagnostic procedures and found that there was no single diagnostic tool to confirm the disorder. We also found that the diagnosis period was too long. As the result of this review, we found an ASD diagnosis triad which helps to choose the right diagnosis procedure based on the subjects age which reduces the diagnostic period and helps to aid early diagnosis by eliminating the chaos in choosing the diagnostic tools.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Fig. 1
Fig. 2
Fig. 3
Fig. 4
Fig. 5

Similar content being viewed by others

References

  1. Bai D, Yip BHK, Windham GC, et al. Association of Genetic and Environmental Factors With Autism in a 5-Country Cohort. JAMA Psychiatry. 2019;76(10):1035–43. https://doi.org/10.1001/jamapsychiatry.2019.1411

  2. Hisle-Gorman E, Susi A, Stokes T, Gorman G, Erdie-Lalena C, Nylund CM. Prenatal, perinatal, and neonatal risk factors of autism spectrum disorder. Pediatr Res. 2018;84(2):190–8. https://doi.org/10.1038/pr.2018.23.

    Article  Google Scholar 

  3. Parner ET, Baron-Cohen S, Lauritsen MB, Jørgensen M, Schieve LA, Yeargin-Allsopp M, Obel C. Parental age and autism spectrum disorders. Ann Epidemiol. 2012;22(3):143–50. https://doi.org/10.1016/j.annepidem.2011.12.006.

    Article  Google Scholar 

  4. Centres for Disease Control and Prevention. Autism Spectrum Disorder (ASD). Data and Statistics. 2022. https://www.cdc.gov/ncbddd/autism/data.html (Accessed on 31st Mar 2022)

  5. Centres for Disease Control and Prevention. Autism Spectrum Disorder (ASD). Screening and diagnosis. 2022. https://www.cdc.gov/ncbddd/autism/screening.html (Accessed on 31st Mar 2022)

  6. Kim SH, Joseph RM, Frazier JA, O’Shea TM, Chawarska K, Allred EN, Leviton A, Kuban KK, Extremely Low Gestational Age Newborn (ELGAN) Study Investigators. Predictive validity of the modified checklist for autism in toddlers (M-CHAT) born very preterm. J Pediatr. 2016;178:101-107.e2. https://doi.org/10.1016/j.jpeds.2016.07.052.

    Article  Google Scholar 

  7. John O. Meta-analysis of diagnostic accuracy of M-CHAT by categorical rank of clinical diagnosis. In: Thesis. Georgia State University; 2020.

    Google Scholar 

  8. Schjølberg S, Shic F, Volkmar FR, Nordahl-Hansen A, Stenberg N, Torske T, Larsen K, Riley K, Sukhodolsky DG, Leckman JF, Chawarska K, Øien RA. What are we optimizing for in autism screening? Examination of algorithmic changes in the M-CHAT. Autism Res. 2021;15(2):296–304. https://doi.org/10.1002/aur.2643.

    Article  Google Scholar 

  9. Immaculate RGD. A comparison on performance evaluation of various image fusion techniques. Int J Emerg Technol Innovative Eng. 2015;1(3). ISSN: 2394-6598

  10. Srisinghasongkram P, Pruksananonda C, Chonchaiya W. Two-step screening of the modified checklist for autism in toddlers in Thai children with language delay and typically developing children. J Autism Dev Disord. 2016;46(10):3317–29. https://doi.org/10.1007/s10803-016-2876-4.

    Article  Google Scholar 

  11. Sangare M, Toure HB, Toure A, Karembe A, Dolo H, Coulibaly YI, Kouyate M, Traore K, Diakité SA, Coulibaly S, Togora A, Guinto CO, Awandare GA, Doumbia S, Diakite M, Geschwind DH. Validation of two parent-reported autism spectrum disorders screening tools M-CHAT-R and SCQ in Bamako, Mali. ENeurological Sci. 2019;15:100188. https://doi.org/10.1016/j.ensci.2019.100188.

    Article  Google Scholar 

  12. Robins DL, Casagrande K, Barton M, Chen CMA, Dumont-Mathieu T, Fein D. Validation of the modified checklist for autism in toddlers, revised with follow-up (M-CHAT-R/F). Pediatrics. 2013;133(1):37–45. https://doi.org/10.1542/peds.2013-1813.

    Article  Google Scholar 

  13. Sturner R, Howard B, Bergmann P, Attar S, Stewart-Artz L, Bet K, Allison C, Baron-Cohen S. Autism screening at 18 months of age: a comparison of the Q-CHAT-10 and M-CHAT screeners. Mol Autism. 2022. https://doi.org/10.1186/s13229-021-00480-4.

    Article  Google Scholar 

  14. Weitlauf AS, Vehorn AC, Stone WL, Fein D, Warren ZE. Using the M-CHAT-R/F to identify developmental concerns in a high-risk 18-month-old sibling sample. J Dev Behav Pediatr. 2015;36(7):497–502. https://doi.org/10.1097/dbp.0000000000000194.

    Article  Google Scholar 

  15. Petrocchi S, Levante A, Lecciso F. Systematic review of level 1 and level 2 screening tools for autism spectrum disorders in toddlers. Brain Sci. 2020;10(3):180. https://doi.org/10.3390/brainsci10030180.

    Article  Google Scholar 

  16. McCarty P, Frye RE. Early detection and diagnosis of autism spectrum disorder: why is it so difficult? Semin Pediatr Neurol. 2020;35:100831. https://doi.org/10.1016/j.spen.2020.100831.

    Article  Google Scholar 

  17. Nukeshtayeva K, Lubchenko M, Omarkulov B, DeLellis N. Validation non-English version of modified checklist for autism in toddlers-revised with follow-up. J Clin Med Kazakhstan. 2021;18(4):4–11. https://doi.org/10.23950/jcmk/11041.

    Article  Google Scholar 

  18. Kim SY, Oh M, Bong G, Song DY, Yoon NH, Kim JH, Yoo HJ. Diagnostic validity of autism diagnostic observation schedule second edition (K-ADOS-2) in the Korean population. Mol Autism. 2022. https://doi.org/10.1186/s13229-022-00506-5.

    Article  Google Scholar 

  19. Lebersfeld JB, Swanson M, Clesi CD, et al. Systematic review and meta-analysis of the clinical utility of the ADOS-2 and the ADI-R in diagnosing autism spectrum disorders in children. J Autism Dev Disord. 2021;51:4101–14. https://doi.org/10.1007/s10803-020-04839-z.

    Article  Google Scholar 

  20. Centres for Disease Control and Prevention. Autism Spectrum Disorder (ASD). Screening and diagnosis. 2022. https://www.cdc.gov/ncbddd/autism/hcp-screening.html (Accessed on 6th Apr 2022)

  21. Jansen AG, Mous SE, White T, Posthuma D, Polderman TJC. What twin studies tell us about the heritability of brain development, morphology, and function: a review. Neuropsychol Rev. 2015;25(1):27–46. https://doi.org/10.1007/s11065-015-9278-9.

    Article  Google Scholar 

  22. Ruby Grace D, Immaculate. International Journal of Emerging Technology and Innovative Engineering, 2015; 1(3).

  23. Hillman EM. Coupling mechanism and significance of the BOLD signal: a status report. Annu Rev Neurosci. 2014;37:161–81. https://doi.org/10.1146/annurev-neuro-071013-014111. (PMID:25032494; PMCID:PMC4147398).

    Article  Google Scholar 

  24. Tae WS, Ham BJ, Pyun SB, Kang SH, Kim BJ. Current clinical applications of diffusion-tensor imaging in neurological disorders. J Clin Neurol. 2018;14(2):129. https://doi.org/10.3988/jcn.2018.14.2.129.

    Article  Google Scholar 

  25. Zhang F, Wei Y, Liu J, Wang Y, Xi W, Pan Y. Identification of Autism spectrum disorder based on a novel feature selection method and variational autoencoder. Comput Biol Med. 2022;148:105854. https://doi.org/10.1016/j.compbiomed.2022.105854.

    Article  Google Scholar 

  26. Margolis AE, Pagliaccio D, Thomas L, Banker S, Marsh R. Salience network connectivity and social processing in children with nonverbal learning disability or autism spectrum disorder. Neuropsychology. 2019;33(1):135–43. https://doi.org/10.1037/neu0000494.

    Article  Google Scholar 

  27. Gotts SJ, Ramot M, Jasmin K, Martin A. Altered resting-state dynamics in autism spectrum disorder: Causal to the social impairment? Prog Neuropsychopharmacol Biol Psychiatry. 2019;90:28–36. https://doi.org/10.1016/j.pnpbp.2018.11.002.

    Article  Google Scholar 

  28. Li Y, Zhu Y, Nguchu BA, Wang Y, Wang H, Qiu B, Wang X. Dynamic functional connectivity reveals abnormal variability and hyper-connected pattern in autism spectrum disorder. Autism Res. 2019;13(2):230–43. https://doi.org/10.1002/aur.2212.

    Article  Google Scholar 

  29. Voorhies W, Dajani DR, Vij SG, Shankar S, Turan TO, Uddin LQ. Aberrant functional connectivity of inhibitory control networks in children with autism spectrum disorder. Autism Res. 2018;11(11):1468–78. https://doi.org/10.1002/aur.2014.

    Article  Google Scholar 

  30. Liu G, Shi L, Qiu J, Lu W. Two neuroanatomical subtypes of males with autism spectrum disorder revealed using semi-supervised machine learning. Mol Autism. 2022. https://doi.org/10.1186/s13229-022-00489-3.

    Article  Google Scholar 

  31. Thabtah F. Machine learning in autistic spectrum disorder behavioral research: a review and ways forward. Inform Health Soc Care. 2018;44(3):278–97. https://doi.org/10.1080/17538157.2017.1399132.

    Article  Google Scholar 

  32. Bilgen I, Guvercin G, Rekik I. Machine learning methods for brain network classification: application to autism diagnosis using cortical morphological networks. J Neurosci Methods. 2020;343:108799. https://doi.org/10.1016/j.jneumeth.2020.108799.

    Article  Google Scholar 

  33. Akhavan Aghdam M, Sharifi A, Pedram MM. Combination of rs-fMRI and sMRI data to discriminate autism spectrum disorders in young children using deep belief network. J Digit Imaging. 2018;31(6):895–903. https://doi.org/10.1007/s10278-018-0093-8.

    Article  Google Scholar 

  34. Aghdam MA, Sharifi A, Pedram MM. Diagnosis of autism spectrum disorders in young children based on resting-state functional magnetic resonance imaging data using convolutional neural networks. J Digit Imaging. 2019;32(6):899–918. https://doi.org/10.1007/s10278-019-00196-1.

    Article  Google Scholar 

  35. Heinsfeld AS, Franco AR, Craddock RC, Buchweitz A, Meneguzzi F. Identification of autism spectrum disorder using deep learning and the ABIDE dataset. NeuroImage Clin. 2018;17:16–23. https://doi.org/10.1016/j.nicl.2017.08.017.

    Article  Google Scholar 

  36. Dekhil O, Ali M, El-Nakieb Y, Shalaby A, Soliman A, Switala A, Mahmoud A, Ghazal M, Hajjdiab H, Casanova MF, Elmaghraby A, Keynton R, El-Baz A, Barnes G. A personalized autism diagnosis CAD system using a fusion of structural MRI and resting-state functional MRI data. Front Psych. 2019. https://doi.org/10.3389/fpsyt.2019.00392.

    Article  Google Scholar 

  37. Khadem-Reza ZK, Zare H. Automatic detection of autism spectrum disorder (ASD) in children using structural magnetic resonance imaging with machine vision system. Middle East Curr Psychiatry. 2022;29:54. https://doi.org/10.1186/s43045-022-00220-1.

    Article  Google Scholar 

  38. Raina SK, Chander V, Bhardwaj AK, Kumar D, Sharma S, Kashyap V, Singh M, Bhardwaj A. Prevalence of Autism Spectrum Disorder among Rural, Urban, and Tribal Children (1–10 Years of Age). J Neurosci Rural Pract. 2017;08(03):368–74. https://doi.org/10.4103/jnrp.jnrp_329_16.

    Article  Google Scholar 

  39. Ecker C, Murphy D. Neuroimaging in autism—from basic science to translational research. Nat Rev Neurol. 2014;10(2):82–91. https://doi.org/10.1038/nrneurol.2013.276.

    Article  Google Scholar 

  40. Marlow M, Servili C, Tomlinson M. A review of screening tools for the identification of autism spectrum disorders and developmental delay in infants and young children: recommendations for use in low- and middle-income countries. Autism Res. 2019;12(2):176–99. https://doi.org/10.1002/aur.2033.

    Article  Google Scholar 

Download references

Funding

The authors did not receive support from any organization for the submitted work. No funding was received to assist with the preparation of this manuscript.

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to D. Swainson Sujana.

Ethics declarations

Conflict of interest

The authors declare that they have no conflicts of interest.

Additional information

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

This article is part of the topical collection “Advances in Computational Intelligence, Paradigms and Applications” guest edited by Young Lee and S. Meenakshi Sundaram.

Rights and permissions

Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Sujana, D.S., Augustine, D.P. Diagnosis of Autism Spectrum Disorder: A Review of Three Focused Interventions. SN COMPUT. SCI. 4, 139 (2023). https://doi.org/10.1007/s42979-022-01584-1

Download citation

  • Received:

  • Accepted:

  • Published:

  • DOI: https://doi.org/10.1007/s42979-022-01584-1

Keywords

Navigation