Skip to main content

Advertisement

Log in

Early Diagnosis of Autism Spectrum Disorder: What the Pediatricians Should Know

  • Review Article
  • Published:
Indian Journal of Pediatrics Aims and scope Submit manuscript

Abstract

Autism is a spectrum disorder marked by considerable heterogeneity and characterized by impairments in the social communication domain along with the presence of restricted and repetitive behaviors or interests. Comprehensive autism evaluation generally consists of assessments by a multidisciplinary team. Having multiple specialists in the evaluation team aids in diagnosis and in chalking out a comprehensive management plan. Diagnosis is generally based on detailed developmental history, clinical judgment, and the use of standardized diagnostic instruments. Differential diagnosis is complicated as many of the mental health and neurodevelopmental conditions that routinely coexist with autism also have some symptoms that overlap with autism. Several barriers are linked to delay in diagnosis including lack of comfort in diagnosing autism by primary care providers, delayed referrals, the inability of parents to raise critical developmental concerns, confusion of autism with other conditions, and health system that is not responsive to the needs of the underserved communities. The etiology of autism spectrum disorder (ASD) is complex and still not completely understood; it involves genetics, neurobiology, and environmental exposures, leading to a diverse presentation of behaviors and symptoms. There is an imperative need to start therapeutic interventions as soon as a diagnosis of autism is suspected rather than wait for a definitive diagnosis. Early diagnosis is vital as timely intervention can lead to better outcomes for children and their families.

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.

Similar content being viewed by others

References

  1. American Psychiatric Association (APA). Diagnostic and statistical manual of mental disorders, 5th edition. Arlington, VA: American Psychiatric Association; 2013. p. 50–59.

  2. Cakir J, Frye RE, Walker SJ. The lifetime social cost of autism: 1990–2029. Res Autism Spectrum Disord. 2020;72:101502.

    Article  Google Scholar 

  3. Arora NK, Nair MKC, Gulati S, et al. Neurodevelopmental disorders in children aged 2–9 years: Population-based burden estimates across five regions in India. PLoS Med. 2018;15:e1002615.

    Article  PubMed  PubMed Central  Google Scholar 

  4. 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:e20193447.

  5. Lord C, Charman T, Havdahl A, et al. The Lancet Commission on the future of care and clinical research in autism. Lancet. 2022;399:271–334.

    Article  PubMed  Google Scholar 

  6. Guinchat V, Chamak B, Bonniau B, et al. Very early signs of autism reported by parents include many concerns not specific to autism criteria. Res Autism Spectr Disord. 2012;6:589–601.

    Google Scholar 

  7. National Consultation Meeting for Developing IAP Guidelines on Neuro Developmental Disorders under the aegis of IAP Childhood Disability Group and the Committee on Child Development and Neurodevelopmental Disorders, Dalwai S, Ahmed S, Udani V, Mundkur N, Kamath SS, C Nair MK. Consensus statement of the Indian Academy of Pediatrics on evaluation and management of autism spectrum disorder. Indian Pediatr. 2017;54:385–93.

  8. Robins DL, Casagrande K, Barton M, Chen CM, Dumont-Mathieu T, Fein D. Validation of the modified checklist for autism in toddlers, revised with follow-up (M-CHAT-R/F). Pediatrics. 2014;133:37–45.

    Article  PubMed  PubMed Central  Google Scholar 

  9. Ts J, Jacob P, Srinath S, et al. Toddlers at risk for autism spectrum disorders from Kerala, India - a community based screening. Asian J Psychiatr. 2018;31:10–2.

    Article  PubMed  Google Scholar 

  10. Guthrie W, Wallis K, Bennett A, et al. Accuracy of autism screening in a large pediatric network. Pediatrics. 2019;144:e20183963.

    Article  PubMed  Google Scholar 

  11. Babu G, Scaria LM, Prasanna GL, Deepa B, Leena ML, Remadevi S. A nine-item red flag sign card for identification of autism spectrum disorder among toddlers aged 12 to 18 months. Indian J Pediatr. 2022;89:288–90.

    Article  PubMed  Google Scholar 

  12. Chakraborty S, Bhatia T, Sharma V, et al. Psychometric properties of a screening tool for autism in the community-The Indian Autism Screening Questionnaire (IASQ). PLoS ONE. 2021;16:e0249970.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  13. Zwaigenbaum L, Maguire J. Autism screening: where do we go from here? Pediatrics. 2019;144:e20190925.

    Article  PubMed  Google Scholar 

  14. Ministry of Social Justice and Empowerment, GoI. Scientific Report on Research Project for Development of Indian Scale for Assessment of Autism. 2009. Available at: https://thenationaltrust.gov.in/upload/uploadfiles/files/ISAA%20TEST%20MANNUAL(2).pdf. Accessed on 22 Sept 2022.

  15. Mukherjee SB, Aneja S, Sharma S, Sharma M. Diagnostic accuracy of indian scale for assessment of autism in indian children aged 2–5 years. Indian Pediatr. 2019;56:831–6.

    Article  PubMed  Google Scholar 

  16. Gulati S, Kaushik JS, Saini L, et al. Development and validation of DSM-5 based diagnostic tool for children with autism spectrum disorder. PLoS ONE. 2019;14:e0213242.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  17. Malhi P, Singhi P. Adaptive behavior functioning in children with autism. Indian J Pediatr. 2015;82:677–81.

    Article  PubMed  Google Scholar 

  18. Malhi P, Singhi P. Follow up of children with autism spectrum disorders: stability and change in diagnosis. Indian J Pediatr. 2011;78:941–5.

    Article  PubMed  Google Scholar 

  19. Pierce K, Gazestani VH, Bacon E, et al. Evaluation of the diagnostic stability of the early autism spectrum disorder phenotype in the general population starting at 12 months. JAMA Pediatr. 2019;173:578–87.

    Article  PubMed  PubMed Central  Google Scholar 

  20. Prahbhjot M, Singhi P. Age at diagnosis for autism spectrum disorders: does it differ by place of residence? Indian J Pub Health. 2022;66:166–70.

    Google Scholar 

  21. Bhavnani S, Lockwood Estrin G, Arora R, et al. “I was confused … and still am” barriers impacting the help-seeking pathway for an autism diagnosis in urban north India: a mixed methods study. J Autism Dev Disord. 2022;52:1778–88.

    Article  PubMed  Google Scholar 

  22. Malhi P, Shetty AR, Bharti B, Saini L. Parenting a child with autism spectrum disorder: a qualitative study. Indian J Public Health. 2022;66:121–7.

    PubMed  Google Scholar 

  23. Lockwood Estrin G, Milner V, Spain D, Happé F, Colvert E. Barriers to autism spectrum disorder diagnosis for young women and girls: a systematic review. Rev J Autism Dev Disord. 2021;8:454–70.

    Article  PubMed  Google Scholar 

  24. Napolitano A, Schiavi S, La Rosa P, et al. Sex differences in autism spectrum disorder: diagnostic, neurobiological, and behavioral features. Front Psychiatry. 2022;13:889636.

  25. Lukmanji S, Manji SA, Kadhim S, et al. The co-occurrence of epilepsy and autism: a systematic review. Epilepsy Behav. 2019;98:238–48.

    Article  PubMed  Google Scholar 

  26. Sharma V, Saini AG, Malhi P, Singhi P. Epilepsy and EEG abnormalities in children with autism spectrum disorders. Indian J Pediatr. 2021. https://doi.org/10.1007/s12098-021-03928-w.

    Article  PubMed  PubMed Central  Google Scholar 

  27. Lefter R, Ciobica A, Timofte D, Stanciu C, Trifan A. A descriptive review on the prevalence of gastrointestinal disturbances and their multiple associations in autism spectrum disorder. Medicina (Kaunas). 2019;56:11.

    Article  PubMed  Google Scholar 

  28. Malhi P, Kaur A, Singhi P, Sankhyan N. Sleep dysfunction and behavioral daytime problems in children with autism spectrum disorders: a comparative study. Indian J Pediatr. 2019;86:12–7.

    Article  PubMed  Google Scholar 

  29. Malhi P, Saini S, Bharti B, Attri S, Sankhyan N. Sensory processing dysfunction and mealtime behavior problems in children with autism. Indian Pediatr. 2021;58:842–5.

    Article  PubMed  Google Scholar 

  30. Malhi P, Sankhyan N. Intentional self harm in children with autism. Indian J Pediatr. 2021;88:158–60.

    Article  PubMed  Google Scholar 

Download references

Acknowledgements

The authors thank their patients and the families.

Author information

Authors and Affiliations

Authors

Contributions

PS, PM contributed equally to writing the manuscript. PS will act as the guarantor of this paper.

Corresponding author

Correspondence to Prahbhjot Malhi.

Ethics declarations

Conflict of Interest

None.

Additional information

Publisher's Note

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

Rights and permissions

Springer Nature or its licensor 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

Singhi, P., Malhi, P. Early Diagnosis of Autism Spectrum Disorder: What the Pediatricians Should Know. Indian J Pediatr 90, 364–368 (2023). https://doi.org/10.1007/s12098-022-04363-1

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12098-022-04363-1

Keywords

Navigation