Clinical Assessment and Management of Toddlers With Suspected Autism Spectrum Disorder: Insights From Studies of High-Risk Infants
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With increased public awareness of the early signs and recent American Academy of Pediatrics recommendations that all 18- and 24-month-olds be screened for autism spectrum disorders, there is an increasing need for diagnostic assessment of very young children. However, unique challenges exist in applying current diagnostic guidelines for autism spectrum disorders to children under the age of 2 years. In this article, we address challenges related to early detection, diagnosis, and treatment of autism spectrum disorders in this age group. We provide a comprehensive review of findings from recent studies on the early development of children with autism spectrum disorders, summarizing current knowledge on early signs of autism spectrum disorders, the screening properties of early detection tools, and current best practice for diagnostic assessment of autism spectrum disorders before 2 years of age. We also outline principles of effective intervention for children under the age of 2 with suspected/confirmed autism spectrum disorders. It is hoped that ongoing studies will provide an even stronger foundation for evidence-based diagnostic and intervention approaches for this critically important age group.
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Previous longitudinal studies of high-risk infant siblings have suggested that ASD onset may be more complex and less homogeneous than previously understood, both with respect to timing and the consolidation of symptoms into a clear diagnostic profile.
“Previous longitudinal studies of high-risk infant siblings [23, 34, 52] have suggested that ASD onset may be more complex and less homogeneous than previously understood [1, 33, 35], both with respect to timing and the consolidation of symptoms into a clear diagnostic profile [51].”
From Behavioral, cognitive, and adaptive development in infants with autism spectrum disorder in the first 2 years of life (2015) · cites this paper as [51]
Infants depend on experiential learning within their natural environments and on interactions rooted in social play that occur within the context of everyday caregiving activities.
“Infants depend on experiential learning within their natural environments and on interactions rooted in social play that occur within the context of everyday caregiving activities. 1”
From Early Intervention for Children With Autism Spectrum Disorder Under 3 Years of Age: Recommendations for Practice and Research (2015) · cites this paper as [1]
Intensive behavioral therapy is currently the only effective treatment for the three diagnostic symptoms of autism.
“Intensive behavioral therapy is currently the only effective treatment for the three diagnostic symptoms: qualitative impairment in social interaction, deficits in communication, and stereotyped repetitive behaviors with restricted interests (5–10).”
From Negative allosteric modulation of the mGluR5 receptor reduces repetitive behaviors and rescues social deficits in mouse models of autism (2012) · cites this paper as [9]
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Self-citationAre there early features of autism in infants and preschool children?
Gray, K. M., & Tonge, B. J. (2001) · Journal of Paediatrics and Child Health · doi:10.1046/j.1440-1754.2001.00653.x · Cited by 98 · see citing works
(2014) · Psychology Press eBooks · doi:10.4324/9781410607010 · Cited by 87 · see citing works
Responsive Teaching: Early intervention for children with Down syndrome and other disabilities
Mahoney, G. J., Perales, F., Wiggers, B., & Herman, B. B. (2006) · Down Syndrome Research and Practice · doi:10.3104/perspectives.311 · Cited by 87 · see citing works
The Very Early Autism Phenotype
Yirmiya, N., & Ozonoff, S. J. (2007) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-006-0329-1 · Cited by 72 · see citing works
Self-citationAge-Related Changes in Imitation: Implications for Memory Development
Barr, M. D. R., & Hayne, H. (2000) · Psychology Press eBooks · doi:10.4324/9781410606518-9 · Cited by 71 · see citing works
Cognitive and verbal abilities of 24- to 36-month-old siblings of children with autism
Yirmiya, N., Gamliel, I., Shaked, M., & Sigman, M. (2007) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-006-0163-5 · Cited by 67 · see citing works
Self-citationLannon, C., Flower, K. B., Duncan, P., Strazza, K., Stuart, J., & Bassewitz, J. B. (2008) · PEDIATRICS · doi:10.1542/peds.2007-2700 · Cited by 38 · see citing works
The Role of Nurses in Screening for Autistic Spectrum Disorder in Pediatric Primary Care
Pinto‐Martin, J. A., Souders, M. C., Giarelli, E., & Levy, S. E. (2005) · Journal of Pediatric Nursing · doi:10.1016/j.pedn.2005.01.004 · Cited by 29 · see citing works
Revisiting Parental Concerns in the Age of Autism Spectrum Disorders
Caronna, E. B., Augustyn, M. C., & ZUCKERMAN, B. S. (2007) · Archives of Pediatrics and Adolescent Medicine · doi:10.1001/archpedi.161.4.406 · Cited by 23 · see citing works
Autistic spectrum disorders in preschool children.
Zwaigenbaum, L. (2001) · PubMed Central · Cited by 16 · see citing works
Self-citationThe Screening Tool for Autism in Two Year Olds can identify children at risk of autism
Zwaigenbaum, L. (2005) · Evidence-Based Mental Health · doi:10.1136/ebmh.8.3.69 · Cited by 10 · see citing works
Self-citationIntroduction: Autism—The Challenges Ahead
Rutter, M. L. (2003) · Novartis Foundation symposium · doi:10.1002/0470869380.ch1 · Cited by 7 · see citing works
Flagged first, then by citations
Research works printed but not linked: 1
- [101]Lord C Bailey A Rutter M Taylor ER Autism spectrum disorders Child and Adolescent Psychiatry 4 New York, NY Guilford Press 2002 636 663
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Sorted by citations
Lai, M.-C., Lombardo, M. V., & Baron-Cohen, S. (2014) · The Lancet · doi:10.1016/s0140-6736(13)61539-1 · Cited by 2,371 · see citing works
Behavioural phenotyping assays for mouse models of autism
Silverman, J. L., Yang, M., Lord, C., & Crawley, J. N. (2010) · Nature Reviews Neuroscience · doi:10.1038/nrn2851 · Cited by 1,462 · see citing works
Self-citationRecurrence Risk for Autism Spectrum Disorders: A Baby Siblings Research Consortium Study
Ozonoff, S., Young, G. S., Carter, A., Messinger, D., Yirmiya, N., Zwaigenbaum, L., Bryson, S., Carver, L. J., Constantino, J. N., Dobkins, K., et al. (2011) · Pediatrics · doi:10.1542/peds.2010-2825 · Cited by 1,429 · see citing works
Self-citationDecreased interhemispheric functional connectivity in autism
Anderson, J. S., Druzgal, T. J., Froehlich, A., DuBray, M. B., Lange, N., Alexander, A. L., Abildskov, T., Nielsen, J. A., Cariello, A. N., Cooperrider, J. R., et al. (2011) · Cerebral Cortex · doi:10.1093/cercor/bhq190 · Cited by 438 · see citing works
A randomized controlled trial of Hanen's ‘More Than Words’ in toddlers with early autism symptoms
Carter, A. S., Messinger, D. S., Stone, W. L., Celimli, S., Nahmias, A. S., & Yoder, P. (2011) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.2011.02395.x · Cited by 446 · see citing works
Self-citationDisrupted neural synchronization in toddlers with autism
Dinstein, I., Pierce, K., Eyler, L., Solso, S., Malach, R., Behrmann, M., & Courchesne, E. (2011) · Neuron · doi:10.1016/j.neuron.2011.04.018 · Cited by 384 · see citing works
IBIS network, Estes, A., Zwaigenbaum, L., Gu, H., St. John, T., Paterson, S., Elison, J. T., Hazlett, H., Botteron, K., Dager, S. R., et al. (2015) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-015-9117-6 · Cited by 363 · see citing works
Self-citationEarly identification of autism spectrum disorders
Zwaigenbaum, L., Bryson, S., & Garon, N. (2013) · Behavioural Brain Research · doi:10.1016/j.bbr.2013.04.004 · Cited by 370 · see citing works
Self-citationA Systematic Review of Medical Treatments for Children With Autism Spectrum Disorders
McPheeters, M. L., Warren, Z., Sathe, N., Bruzek, J. L., Krishnaswami, S., Jerome, R. N., & Veenstra-VanderWeele, J. (2011) · Pediatrics · doi:10.1542/peds.2011-0427 · Cited by 356 · see citing works
Bayesian approaches to autism: Towards volatility, action, and behavior.
Palmer, C. J., Lawson, R. P., & Hohwy, J. (2017) · Psychological Bulletin · doi:10.1037/bul0000097 · Cited by 307 · see citing works
The onset of autism: patterns of symptom emergence in the first years of life
Ozonoff, S., Heung, K., Byrd, R., Hansen, R., & Hertz‐Picciotto, I. (2008) · Autism Research · doi:10.1002/aur.53 · Cited by 293 · see citing works
Self-citationBeyond Autism: A Baby Siblings Research Consortium Study of High-Risk Children at Three Years of Age
Messinger, D., Young, G. S., Ozonoff, S., Dobkins, K., Carter, A., Zwaigenbaum, L., Landa, R. J., Charman, T., Stone, W. L., Constantino, J. N., et al. (2013) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1016/j.jaac.2012.12.011 · Cited by 290 · see citing works
Self-citationInfants and Toddlers With Autism Spectrum Disorder: Early Identification and Early Intervention
Boyd, B. A., Odom, S. L., Humphreys, B. P., & Sam, A. M. (2010) · Journal of Early Intervention · doi:10.1177/1053815110362690 · Cited by 272 · see citing works
State of the field: Differentiating intellectual disability from autism spectrum disorder
Thurm, A., Farmer, C., Salzman, E., Lord, C., & Bishop, S. (2019) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2019.00526 · Cited by 267 · see citing works
Self-citationMeta-analysis of parent-mediated interventions for young children with autism spectrum disorder
Nevill, R. E., Lecavalier, L., & Stratis, E. A. (2018) · Autism · doi:10.1177/1362361316677838 · Cited by 265 · see citing works
In search of biomarkers for autism: scientific, social and ethical challenges
Walsh, P., Elsabbagh, M., Bolton, P., & Singh, I. (2011) · Nature Reviews Neuroscience · doi:10.1038/nrn3113 · Cited by 249 · see citing works
Silverman, J. L., Smith, D. G., Rizzo, S. J. S., Karras, M. N., Turner, S. M., Tolu, S. S., Bryce, D. K., Smith, D. L., Fonseca, K., Ring, R. H., et al. (2012) · Science Translational Medicine · doi:10.1126/scitranslmed.3003501 · Cited by 251 · see citing works
Getting answers from babies about autism
Elsabbagh, M., & Johnson, M. H. (2010) · Trends in Cognitive Sciences · doi:10.1016/j.tics.2009.12.005 · Cited by 237 · see citing works
Disruption of functional organization within the primary motor cortex in children with autism
Nebel, M. B., Joel, S. E., Muschelli, J., Barber, A. D., Caffo, B. S., Pekar, J. J., & Mostofsky, S. H. (2014) · Human Brain Mapping · doi:10.1002/hbm.22188 · Cited by 213 · see citing works
Anagnostou, E., Jones, N., Huerta, M., Halladay, A. K., Wang, P., Scahill, L., Horrigan, J. P., Kasari, C., Lord, C., Choi, D., et al. (2015) · Autism · doi:10.1177/1362361314542955 · Cited by 210 · see citing works
Self-citationZwaigenbaum, L., Bryson, S. E., Szatmari, P., Brian, J., Smith, I. M., Roberts, W., Vaillancourt, T., & Roncadin, C. (2012) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-012-1515-y · Cited by 178 · see citing works
Self-citationVery early signs of autism reported by parents include many concerns not specific to autism criteria
Guinchat, V., Chamak, B., Bonniau, B., Bodeau, N., Perisse, D., Cohen, D., & Danion, A. (2012) · Research in Autism Spectrum Disorders · doi:10.1016/j.rasd.2011.10.005 · Cited by 162 · see citing works
Zwaigenbaum, L., Bryson, S. E., Brian, J., Smith, I. M., Roberts, W., Szatmari, P., Roncadin, C., Garon, N., & Vaillancourt, T. (2016) · Autism Research · doi:10.1002/aur.1585 · Cited by 165 · see citing works
Self-citationGerdts, J., & Bernier, R. (2011) · Autism Research and Treatment · doi:10.1155/2011/545901 · Cited by 146 · see citing works
Low stress reactivity and neuroendocrine factors in the BTBR T+tf/J mouse model of autism
Silverman, J. L., Yang, M., Turner, S. M., Katz, A. M., Bell, D. B., Koenig, J. I., & Crawley, J. N. (2010) · Neuroscience · doi:10.1016/j.neuroscience.2010.09.059 · Cited by 146 · see citing works
Auditory Processing in High-Functioning Adolescents with Autism Spectrum Disorder
DePape, A.-M. R., Hall, G. B. C., Tillmann, B., & Trainor, L. J. (2012) · PLoS ONE · doi:10.1371/journal.pone.0044084 · Cited by 139 · see citing works
Multidimensional Influences on Autism Symptom Measures: Implications for Use in Etiological Research
Havdahl, K. A., Hus Bal, V., Huerta, M., Pickles, A., Øyen, A.-S., Stoltenberg, C., Lord, C., & Bishop, S. L. (2016) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1016/j.jaac.2016.09.490 · Cited by 139 · see citing works
Self-citationGeorgiades, S., Szatmari, P., Zwaigenbaum, L., Bryson, S., Brian, J., Roberts, W., Smith, I., Vaillancourt, T., Roncadin, C., & Garon, N. (2013) · JAMA Psychiatry · doi:10.1001/2013.jamapsychiatry.1 · Cited by 130 · see citing works
Self-citationIssues and theoretical constructs regarding parent education for autism spectrum disorders
Steiner, A. M., Koegel, L. K., Koegel, R. L., & Ence, W. A. (2012) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-011-1194-0 · Cited by 133 · see citing works
Kasari, C., Siller, M., Huynh, L. N., Shih, W., Swanson, M., Hellemann, G. S., & Sugar, C. A. (2014) · Infant Behavior and Development · doi:10.1016/j.infbeh.2014.08.007 · Cited by 127 · see citing works
Standards of diagnostic assessment for autism spectrum disorder
Brian, J. A., Zwaigenbaum, L., & Ip, A. (2019) · Paediatrics & Child Health · doi:10.1093/pch/pxz117 · Cited by 126 · see citing works
Self-citationRepetitive Behavior in 12-Month-Olds Later Classified With Autism Spectrum Disorder
Elison, J. T., Wolff, J. J., Reznick, J. S., Botteron, K. N., Estes, A. M., Gu, H., Hazlett, H. C., Meadows, A. J., Paterson, S. J., Zwaigenbaum, L., et al. (2014) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1016/j.jaac.2014.08.004 · Cited by 113 · see citing works
Self-citationRighi, G., Tierney, A. L., Tager-Flusberg, H., & Nelson, C. A. (2014) · PLoS ONE · doi:10.1371/journal.pone.0105176 · Cited by 105 · see citing works
“To investigate issues related to very early development, studies rely on infants with an older sibling with ASD [8,9].”
BackgroundSelf-citationAdvances in the early detection of autism
Zwaigenbaum, L. (2010) · Current Opinion in Neurology · doi:10.1097/wco.0b013e3283372430 · Cited by 64 · see citing works
Self-citationSeery, A., Tager-Flusberg, H., & Nelson, C. A. (2014) · Journal of Neurodevelopmental Disorders · doi:10.1186/1866-1955-6-43 · Cited by 41 · see citing works
Self-citationDo early caregiver concerns differ for girls with autism spectrum disorders?
Little, L. M., Wallisch, A., Salley, B., & Jamison, R. (2017) · Autism · doi:10.1177/1362361316664188 · Cited by 32 · see citing works
The Behavioral Manifestations of Autism Spectrum Disorders
Kim, S. H., & Lord, C. (2013) · The Neuroscience of Autism Spectrum Disorders · doi:10.1016/b978-0-12-391924-3.00002-8 · Cited by 31 · see citing works
Self-citation
- Authors
- Zwaigenbaum, L., Bryson, S., Lord, C., Rogers, S., Carter, A., Carver, L., Chawarska, K., Constantino, J., Dawson, G., Dobkins, K., Fein, D., Iverson, J., Klin, A., Landa, R., Messinger, D., Ozonoff, S., Sigman, M., Stone, W., Tager-Flusberg, H., & Yirmiya, N.
- Affiliations
- University of Alberta (CA)
- Dalhousie University (CA)
- University of Michigan (US)
- University of California, Davis (US)
- University of Massachusetts Boston (US)
- University of California San Diego (US)
- Yale University (US)
- Washington University in St. Louis (US)
- Department of Psychiatry, University of North Carolina, Chapel Hill, North Carolina
- University of Connecticut (US)
- University of Pittsburgh (US)
- Johns Hopkins University (US)
- University of Miami (US)
- University of California, Los Angeles (US)
- Vanderbilt University (US)
- Boston University (US)
- Hebrew University of Jerusalem (IL)
- ORCID
- Venue
- Pediatrics
- Publisher
- American Academy of Pediatrics (AAP)
- Published
- 2009-05-01
- Volume
- 123
- Issue
- 5
- Pages
- 1383-1391
- ISSN
- 0031-4005 (ISSN-L)
- 1098-4275
- PMC
- PMC2833286
- OpenAlex
- W2097132700
- Cited by
- 444
- References
- 109
- Citations by year
- 2026: 12 · 2025: 12 · 2024: 15 · 2023: 12 · 2022: 18 · 2021: 23 · 2020: 32 · 2019: 27 · 2018: 27 · 2017: 20 · 2016: 30 · 2015: 32 · 2014: 48 · 2013: 29 · 2012: 33
- FWCI
- 2.64
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- PEDIATRICS (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Carolina Digital Repository (University of North Carolina at Chapel Hill) (submittedVersion)
- UNC Libraries
- Funders
- Autism Speaks (AS1305)
- National Institute of Mental Health (R01MH068398, R01MH078165, R01MH087554)
- National Institute of Child Health and Human Development
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD054979, P01HD003008)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Health Sciences › Medicine › Psychiatry and Mental health › Child Nutrition and Feeding Issues
- Social Sciences › Psychology › Clinical Psychology › Family and Disability Support Research
- Keywords
- autism spectrum disorder, toddlers, early detection, autism screening, diagnostic assessment, early intervention, high-risk infants, early signs of autism
- MeSH terms
- Autistic Disorder, Child Development, Communication, Health Status Indicators, Humans, Infant, Language, Surveys and Questionnaires, Infant Behavior
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
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