Cited by 113Autism Spectrum Disorder ResearchChild Nutrition and Feeding IssuesGenetics and Neurodevelopmental Disorders

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Diagnosis of Autism Spectrum Disorder After Age 5 in Children Evaluated Longitudinally Since Infancy

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Ozonoff, Sally, Young, Gregory S., Brian, Jessica, Charman, Tony, Shephard, Elizabeth, Solish, Abbie, Zwaigenbaum, Lonnie·2018·Journal of the American Academy of Child & Adolescent Psychiatry

DOI 10.1016/j.jaac.2018.06.022PMC PMC6235445

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Abstract

Objective The diagnosis of autism spectrum disorder (ASD) has been found to be remarkably stable but few studies have followed children not initially diagnosed with ASD beyond 3 years of age to examine late or delayed diagnoses. The present study used a prospective familial-risk design to identify children who had undergone multiple comprehensive assessments in preschool and were determined to be negative for ASD only to meet criteria for ASD when tested in middle childhood.Method Data were pooled across 3 research teams studying later-born siblings of children with ASD. Fourteen children met inclusion criteria for the late-diagnosed group and were compared with a large sample of high- and low-risk siblings from the same sites who had ASD or typical development (TD) outcomes at 3 years of age.Results As a group, the late-diagnosed children scored between the TD and ASD groups on most measures administered at 3 years and differed significantly from the ASD group on most measures. However, there was significant heterogeneity among the late-diagnosed cases. Seven showed very little evidence of ASD in preschool, whereas 7 demonstrated subtle, subthreshold symptomatology.Conclusion Some children with ASD might present with a subtle phenotype early in life or show a prolonged time course of symptom development. This emphasizes the need for screening and surveillance schedules that extend past 36 months and continued evaluation of any child who presents with atypical early development and/or high-risk status. The findings also shed light on reasons why the mean age of ASD diagnosis remains older than 4 years.

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Authors: Ozonoff, S., Young, G. S., Brian, J., Charman, T., Shephard, E., Solish, A., & Zwaigenbaum, L.
Affiliations: University of California, Davis (US)
University of Toronto (CA)
King's College London (GB)
Bloorview Research Institute (CA)
University of Alberta (CA)
Corresponding author: Ozonoff, Sally
ORCID: Ozonoff, Sally
Young, Gregory S.
Brian, Jessica
Charman, Tony
Shephard, Elizabeth
Zwaigenbaum, Lonnie
Venue: Journal of the American Academy of Child & Adolescent Psychiatry
Publisher: Elsevier BV
Published: 2018-11
Volume: 57
Issue: 11
Pages: 849-857.e2
ISSN: 0890-8567 (ISSN-L)
DOI: 10.1016/j.jaac.2018.06.022
PMC: PMC6235445
OpenAlex: W2890969706
Cited by: 113
References: 28
Citations by year: 2026: 7 · 2025: 15 · 2024: 11 · 2023: 13 · 2022: 18 · 2021: 19 · 2020: 18 · 2019: 10 · 2018: 2
FWCI: 7.30
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
Locations: Journal of the American Academy of Child & Adolescent Psychiatry (publishedVersion)
PubMed (publishedVersion)
PubMed Central (acceptedVersion)
eScholarship (California Digital Library) (submittedVersion)
Research Portal (King's College London) (submittedVersion, cc-by-nc-nd)
Funders: National Institutes of Health (R01s MH068398, MH109541)
Canadian Institutes of Health Research
Kids Brain Health Network
Ontario Mental Health Foundation
UK Medical Research Council (G0701484, MR/K021389/1)
Topics: Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
Health Sciences › Medicine › Psychiatry and Mental health › Child Nutrition and Feeding Issues
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Keywords: autism spectrum disorder, delayed diagnosis, diagnostic stability, symptom onset, child development monitoring, screening schedules, siblings of autistic children, vulnerable children, preschool assessment, longitudinal follow-up
MeSH terms: Autism Spectrum Disorder, Child, Female, Humans, Male, Phenotype, Population Surveillance, Prospective Studies, Risk, Prevalence, Siblings

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Diagnosis of Autism Spectrum Disorder After Age 5 in Children Evaluated Longitudinally Since Infancy

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