Abstract
The objective of this study was to determine the clinical features that moderate a later age at ASD diagnosis in females in a large sample of females with ASD. Within two large and independent ASD datasets (> 20,000 females), females were first diagnosed with ASD 14-months later relative to males. This later age at diagnosis was moderated by a mild or atypical presentation, wherein repetitive behaviors were limited, IQ and language were broadly intact, and recognized symptoms emerged later in development. Females are at risk for a later age at ASD diagnosis and treatment implementation, and modification of early childhood ASD screening methods for females may be warranted.
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Data Availability
SFARI Data Use: We are grateful to all of the families in SPARK, the SPARK clinical sites and SPARK staff. We appreciate obtaining access to the phenotypic data on SFARI base. Approved researchers can obtain the SPARK population dataset described in this study (https://www.sfari.org/resource/spark/) by applying at https://base.sfari.org.
References
American Psychiatric Association. (2013). Diagnostic and statistical manual of mental disorders. (5th ed.). American Psychiatric Publishing.
Bodfish, J. W., Symons, F. J., Parker, D. E., & Lewis, M. H. (2000). Varieties in repetitive behavior in autism. Journal of Autism and Developmental Disorders, 30, 237–243
Boorse, J., Cola, M., Plate, S., Yankowitz, L., Pandey, J., Schultz, R. T., & Parish-Morris, J. (2019). Linguistic markers of autism in girls: Evidence of a “blended phenotype” during storytelling. Molecular Autism, 10, 14. https://doi.org/10.1186/s13229-019-0268-2
Clark, M. L. E., Vinen, Z., Barbaro, J., & Dissanayake, C. (2018). School age outcomes of children diagnosed early and later with autism spectrum disorder. Journal of Autism and Developmental Disorders, 48(1), 92–102. https://doi.org/10.1007/s10803-017-3279-x
Consortium S. (2018). SPARK: A US cohort of 50,000 families to accelerate autism research. Neuron, 97(3), 488–493. https://doi.org/10.1016/j.neuron.2018.01.015
Daniels, A. M., & Mandell, D. S. (2014). Explaining differences in age at autism spectrum disorder diagnosis: A critical review. Autism, 18(5), 583–597. https://doi.org/10.1177/1362361313480277
Fountain, C., King, M. D., & Bearman, P. S. (2011). Age of diagnosis for autism: Individual and community factors across 10 birth cohorts. Journal of Epidemiology and Community Health, 65(6), 503–510. https://doi.org/10.1136/jech.2009.104588
Fuller, E. A., & Kaiser, A. P. (2020). The effects of early intervention on social communication outcomes for children with autism spectrum disorder: A meta-analysis. Journal of Autism and Developmental Disorders, 50(5), 1683–1700. https://doi.org/10.1007/s10803-019-03927-z
Hiller, R. M., Young, R. L., & Weber, N. (2016). Sex differences in pre-diagnosis concerns for children later diagnosed with autism spectrum disorder. Autism, 20(1), 75–84. https://doi.org/10.1177/1362361314568899
Kaufman, A. S., & Kaufman, N. L. (2004). Kaufman brief intelligence test. (2nd ed.). American Guidance Services.
Loomes, R., Hull, L., & Mandy, W. P. L. (2017). What is the male-to-female ratio in autism spectrum disorder? A systematic review and meta-analysis. Journal of the American Academy of Child and Adolescent Psychiatry, 56(6), 466–474. https://doi.org/10.1016/j.jaac.2017.03.013
Lord, C., Rutter, M., DiLavore, P. C., Risi, S., Gotham, K., & Bishop, S. (2012). Autism diagnostic observation schedule. (2nd ed.). Western Psychological Services.
Mandell, D. S., Morales, K. H., Xie, M., Lawer, L. J., Stahmer, A. C., & Marcus, S. C. (2010). Age of diagnosis among medicaid-enrolled children with autism, 2001–2004. Psychiatric Services, 61(8), 822–829. https://doi.org/10.1176/ps.2010.61.8.822
Mandell, D. S., Novak, M. M., & Zubritsky, C. D. (2005). Factors associated with age of diagnosis among children with autism spectrum disorders. Pediatrics, 116(6), 1480–1486. https://doi.org/10.1542/peds.2005-0185
May, T., & Williams, K. (2018). Brief report: Gender and age of diagnosis time trends in children with autism using australian medicare data. Journal of Autism and Developmental Disorders, 48(12), 4056–4062. https://doi.org/10.1007/s10803-018-3609-7
Mazurek, M. O., Handen, B. L., Wodka, E. L., Nowinski, L., Butter, E., & Engelhardt, C. R. (2014). Age at first autism spectrum disorder diagnosis: The role of birth cohort, demographic factors, and clinical features. Journal of Developmental and Behavioral Pediatrics, 35, 561–569
McCormick, C. E. B., Kavanaugh, B. C., Sipsock, D., Righi, G., Oberman, L. M., Moreno De Luca, D., & Morrow, E. M. (2020). Autism heterogeneity in a densely sampled US population: Results from the first 1000 participants in the RI-CART study. Autism Research. https://doi.org/10.1002/aur.2261
Rutter, M., Bailey, A., & Lord, C. (2003). Social communication questionnaire. Western Psychological Services.
Sparrow, S., Balla, D., & Cicchetti, D. (2005). Vineland adaptive behavior scales. (2nd ed.). American Guidance Service.
Van Wijngaarden-Cremers, P. J., van Eeten, E., Groen, W. B., Van Deurzen, P. A., Oosterling, I. J., & Van der Gaag, R. J. (2014). Gender and age differences in the core triad of impairments in autism spectrum disorders: A systematic review and meta-analysis. Journal of Autism and Developmental Disorders, 44(3), 627–635. https://doi.org/10.1007/s10803-013-1913-9
Funding
This work was supported by the Simons Foundation Autism Research Initiative (286756 and 454555), the Norman Prince Neurosciences Institute at Lifespan, the Hassenfeld Child Health Innovation Institute at Brown University, and the Robert J. and Nancy D. Carney Institute for Brain Science at Brown University. The funding sources had no role in the design and conduct of the study; collection, management, analysis, and interpretation of the data; preparation, review, or approval of the manuscript; and decision to submit the manuscript for publication.
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EM MD PhD, BK PsyD, SS PhD; Methodology: EM MD PhD, BK PsyD; Formal analysis and investigation: BK PsyD, CS, RJ ScD; writing—original draft preparation: BK PsyD; writing—review and editing: EM MD PhD, CS, RJ ScD, CB MPH, SS PhD; funding acquisition: EM MD PhD, SS PhD; resources: EM MD PhD, SS PhD; supervision: EM MD PhD, CB MPH. All authors read and approved the final manuscript. Additional Contributions: We thank families who participated in the RI-CART project, Hannah Marsland, BA, Rebecca Bradley, BS, Elaine Clarke, BS, and Molly Goldman, MS, all of Emma Pendleton Bradley Hospital, for technical assistance, and to Hasmik Tokadjian, MS, of Women and Infants Hospital of Rhode Island for technical assistance. We would also like to thank Stephanie Vartany for her assistance as part of her undergraduate work.
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Dr. Sheinkopf reported grants from the Simons Foundation for Autism Research Initiative (SFARI) during the conduct of the study. Dr. Morrow reported grants from SFARI, as well as other support from Norman Prince Neurosciences Institute at Lifespan, Hassenfeld Child Health Innovation Institute at Brown University, and Robert J. and Nancy D. Carney Institute for Brain Science at Brown University during the conduct of the study; and personal fees from Autism Science Foundation, Charles H. Hood Foundation, University of Rochester Medical Center, Eagles Autism Challenge, Simons Foundation/SFARI, Simons Foundation/SPARK Medical Genetics Committee, LLC/Autism BrainNet, and the National Institutes of Health outside the submitted work. There are no other disclosures.
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Kavanaugh, B.C., Schremp, C.A., Jones, R.N. et al. Moderators of Age of Diagnosis in > 20,000 Females with Autism in Two Large US Studies. J Autism Dev Disord 53, 864–869 (2023). https://doi.org/10.1007/s10803-021-05026-4
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DOI: https://doi.org/10.1007/s10803-021-05026-4