Health Knowledge About Early Diagnosis of Autism Spectrum Disorders: A Case for Soft Transdiagnostic Approaches to Better Represent the Clinical and Scientific Reality of ASD
Abstract
1. Introduction
1.1. Theoretical Framework
1.2. Problem, Research Question
1.3. Systematic Search
Article Title | Sample Size | Age | Diagnostic Tools | Journal Subject Area | Findings in Current Research |
---|---|---|---|---|---|
McCarty, P., and Frye, R. E. (2020, October). Early detection and diagnosis of autism spectrum disorder: Why is it so difficult? Seminars in Pediatric Neurology, 35, 100831. [9] | N/A | N/A | M-CHAT; ADOS; ADI-R; developmental screening; biomarkers | Pediatrics, Neurology | Improved training may increase the occurrence of practice by primary care physicians in ASD diagnosis. |
Kaba, D., and Soykan Aysev, A. (2020). Evaluation of Autism Spectrum Disorder in Early Childhood According to the DSM-5 Diagnostic Criteria. Turk Psikiyatri Dergisi, 31(2). [22] | 80 | 18 to 72 months | ABC; CARS; AbBC | Psychiatry and Mental Health | Children under 7 are the riskiest DSM-5 group for lost diagnosis, which leads to progressive loss of functionality. |
Harris, H. K., Sideridis, G. D., Barbaresi, W. J., and Harstad, E. (2020). Pathogenic yield of genetic testing in autism spectrum disorder. Pediatrics, 146(4). [16] | 500 | 18 to 36 months | Genetic test; DSM-5 criteria | Pediatrics | Toddlers with DSM-5 ASD diagnosis should be recommended for genetic testing. |
Dow, D., Day, T. N., Kutta, T. J., Nottke, C., and Wetherby, A. M. (2020). Screening for autism spectrum disorder in a naturalistic home setting using the systematic observation of red flags (SORF) at 18–24 months. Autism Research, 13(1), 122–133. [19] | 228 | 18 to 24 months | ADOS-T; MSEL; VABS-II; video-recorded home observation; parent-report questionnaire; ESAC | Neurology, Genetics | ASD screening tools are not accurate enough in routine screening of toddlers. SORF provides beneficial video-recorded samples of child and family. |
Hicks, S. D., Carpenter, R. L., Wagner, K. E., Pauley, R., Barros, M., Tierney-Aves, C., … and Middleton, F. A. (2020). Saliva microRNA differentiates children with autism from peers with typical and atypical development. Journal of the American Academy of Child & Adolescent Psychiatry, 59(2), 296–308. [18] | 433 | 2 to 6 years old | DSM-5 criteria | Psychiatry and Mental Health, Developmental and Educational Psychology | Salivary microRNA is a non-invasive test that can improve accuracy in diagnosis of ASD in children. |
Harris, H. K., Lee, C., Sideridis, G. D., Barbaresi, W. J., and Harstad, E. (2021). Identifying subgroups of toddlers with DSM-5 autism spectrum disorder based on core symptoms. Journal of Autism and Developmental Disorders, 1–15. [16] | 500 | 18 to 36 months | DSM-5 criteria | Developmental and Educational Psychology | Social communication and restricted/repetitive behaviors may more precisely characterize subgroups within toddlers at time of ASD diagnosis. |
Kong, X. J., Sherman, H. T., Tian, R., Koh, M., Liu, S., Li, A. C., and Stone, W. S. (2021). Validation of rapid interactive screening test for autism in toddlers using autism diagnostic observation schedule™ second edition in children at high-risk for autism spectrum disorder. Frontiers in psychiatry, 12, 737890. [23] | 35 | 18 to 84 months | RITA-T; ADOS-2 | Psychiatry and Mental Health | Rapid Interactive screening Test for Autism in Toddlers (RITA-T) was found to be valid for screening toddlers at high risk of ASD, allowing initiation of services before formal diagnosis with DSM-5. |
Coulter, K. L., Barton, M. L., Robins, D. L., Stone, W. L., and Fein, D. A. (2021). DSM-5 symptom expression in toddlers. Autism, 25(6), 1653–1665. [17] | 336 | 12 to 36 months | ITC; M-CHAT DSM-5 criteria | Developmental and Educational Psychology | Contradicts earlier studies suggesting that restrictive and repetitive behavior may not be apparent until later in childhood. |
Pellecchia, M., Dickson, K. S., Vejnoska, S. F., and Stahmer, A. C. (2021). The autism spectrum: Diagnosis and epidemiology. In L. M. Glidden, L. Abbeduto, L. L. McIntyre, & M. J. Tassé (Eds.), APA handbook of intellectual and developmental disabilities: Foundations (pp. 207–237). American Psychological Association [21] | N/A | N/A | DSM-5 criteria | Developmental and Educational Psychology | Presents ASD as one of seven conditions that result in intellectual and developmental disabilities. Addresses intellectual disabilities from multiple disciplines in biological, behavioral, and social science. |
Haffner, D. N., Bartram, L. R., Coury, D. L., Rice, C. E., Steingass, K. J., Moore-Clingenpeel, M., … and Group, N. E. D. (2021). The Autism Detection in Early Childhood Tool: Level 2 autism spectrum disorder screening in a NICU Follow-up program. Infant Behavior and Development, 65, 101650. [24] | 69 | 18–36 months | DSM-5 criteria ADEC CBCL | Developmental and Educational Psychology | Autism Detection in Early Childhood is useful as a level 1 screening tool identifying children at risk for ASD in high-risk NICU. |
Khan, Z. U. N., Chand, P., Majid, H., Ahmed, S., Khan, A. H., Jamil, A., … and Jafri, L. (2022). Urinary metabolomics using gas chromatography-mass spectrometry: potential biomarkers for autism spectrum disorder. BMC Neurology, 22(1), 101. [25] | 85 | 24–84 months | DSM-5 criteria biomarker | Neurology | Urine organic acid profiles are good discriminators between children with ASD and typically developing children. |
Alrehaili, R. A., ElKady, R. M., Alrehaili, J. A., and Alreefi, R. M. (2023). Exploring Early Childhood Autism Spectrum Disorders: A Comprehensive Review of Diagnostic Approaches in Young Children. Cureus, 15(12). [20] | N/A | N/A | DSM-5 criteria diagnostic; instrument; medical history; physical examinations; laboratory investigation; neuroimaging; screening test | Medicine | Various diagnostic modalities, including lab investigations and neuroimaging, contribute to early detection and comprehensive assessment of ASD. |
Saban-Bezalel, R., Avni, E., Ben-Itzchak, E., and Zachor, D. A. (2023). Relationship between Parental Concerns about Social–Emotional Reciprocity Deficits and Their Children’s Final ASD Diagnosis. Children, 10(11), 1786. [26] | 80 | 48–154 months | DSM-5 criteria | Pediatrics | Parental concerns about their child’s development regarding deficits in social-emotional reciprocity are significant in predicting a final diagnosis of ASD. |
Lavi, R., and Stokes, M. A. (2023). Reliability and validity of the Autism Screen for Kids and Youth. Autism, 27(7), 1968–1982. [27] | 197 | 48–222 months | DSM-5 criteria; ASKY | Developmental and Educational Psychology | When children outgrow early childhood, the Autism Screen for Kids and Youth with items related to DSM-5 criteria is a promising screening tool. |
Francés, L., Ruiz, A., Soler, C. V., Francés, J., Caules, J., Hervás, A., … and Quintero, J. (2023). Prevalence, comorbidities, and profiles of neurodevelopmental disorders according to the DSM-5-TR in children aged 6 years old in a European region. Frontiers in Psychiatry, 14, 1260747. [28] | 289 | 6 years | WISC-V; CELF-5; Batería para la evaluación de los procesos de lectura revisada-prolece—r; TEDI-MATH; DCDQ | Psychiatry and Mental Health | Neurodevelopmental disorders (NDD) often coexist with other disorders, and it is rare for them to occur alone. There is evidence of presence of comorbidities in language disorders and ADHD. Low economic resources, lower levels of education of parents, and lifestyle habits that can be improved can alert clinicians to the possibility of NDD. |
2. Results
2.1. The 2020 Screening Procedures, Including the DSM-5 Standard
2.2. The 2021 ASD Diagnosis Based on DSM-5 and Screening Tools
2.3. The 2022 ASD Diagnosis Advanced Based on Biomarker
2.4. The 2023 ASD Diagnosis Requires Behavior, Neurological, and Biological Measures
3. Discussion
3.1. New Soft Transdiagnostic Model
3.2. Future Meta-Theoretical Assumptions
3.3. Future Research
3.4. Study Limitations
4. Conclusions
Author Contributions
Funding
Data Availability Statement
Conflicts of Interest
References
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Journal Title | Journal Frequencies | Journal Subject Area |
---|---|---|
Autism | 2 | Developmental and Educational Psychology |
Frontiers in Psychiatry | 2 | Psychiatry and Mental Health |
Seminars in Pediatric Neurology | 1 | Pediatrics, Neurology |
Turk Psikiyatri Dergisi | 1 | Psychiatry and Mental Health |
Pediatrics | 1 | Pediatrics |
Autism Research | 1 | Neurology, Genetics |
Journal of the American Academy of Child and Adolescent Psychiatry | 1 | Psychiatry and Mental Health, Developmental and Educational Psychology |
Journal of Autism and Developmental Disorders | 1 | Developmental and Educational Psychology |
Infant Behavior and Development | 1 | Developmental and Educational Psychology |
BMC Neurology | 1 | Neurology |
Children | 1 | Pediatrics |
Cureus | 1 | Medicine |
Dominate Paradigm—Diagnostic Paradigm for ASD The Functionalist Paradigm [20] | New Paradigm—Transdiagnosis Paradigm for ASD The Interpretivist Paradigm [20] |
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Dow, M.; Wang, T. Health Knowledge About Early Diagnosis of Autism Spectrum Disorders: A Case for Soft Transdiagnostic Approaches to Better Represent the Clinical and Scientific Reality of ASD. Int. J. Environ. Res. Public Health 2025, 22, 816. https://doi.org/10.3390/ijerph22060816
Dow M, Wang T. Health Knowledge About Early Diagnosis of Autism Spectrum Disorders: A Case for Soft Transdiagnostic Approaches to Better Represent the Clinical and Scientific Reality of ASD. International Journal of Environmental Research and Public Health. 2025; 22(6):816. https://doi.org/10.3390/ijerph22060816
Chicago/Turabian StyleDow, Mirah, and Ting Wang. 2025. "Health Knowledge About Early Diagnosis of Autism Spectrum Disorders: A Case for Soft Transdiagnostic Approaches to Better Represent the Clinical and Scientific Reality of ASD" International Journal of Environmental Research and Public Health 22, no. 6: 816. https://doi.org/10.3390/ijerph22060816
APA StyleDow, M., & Wang, T. (2025). Health Knowledge About Early Diagnosis of Autism Spectrum Disorders: A Case for Soft Transdiagnostic Approaches to Better Represent the Clinical and Scientific Reality of ASD. International Journal of Environmental Research and Public Health, 22(6), 816. https://doi.org/10.3390/ijerph22060816