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Cited by 319Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental DisordersChild Nutrition and Feeding Issues

The Broader Autism Phenotype in Infancy: When Does It Emerge?

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Ozonoff, Sally, Young, Gregory S., Belding, Ashleigh, Hill, Monique, Hill, Alesha, Hutman, Ted, Johnson, Scott, Miller, Meghan +4 more·2014·Journal of the American Academy of Child & Adolescent Psychiatry
DOI 10.1016/j.jaac.2013.12.020PMC PMC3989934
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Abstract

Objective This study had 3 goals, which were to examine the following: the frequency of atypical development, consistent with the broader autism phenotype, in high-risk infant siblings of children with autism spectrum disorder (ASD); the age at which atypical development is first evident; and which developmental domains are affected.Method A prospective longitudinal design was used to compare 294 high-risk infants and 116 low-risk infants. Participants were tested at 6, 12, 18, 24, and 36 months of age. At the final visit, outcome was classified as ASD, Typical Development (TD), or Non-TD (defined as elevated Autism Diagnostic Observation Schedule [ADOS] score, low Mullen Scale scores, or both).Results Of the high-risk group, 28% were classified as Non-TD at 36 months of age. Growth curve models demonstrated that the Non-TD group could not be distinguished from the other groups at 6 months of age, but differed significantly from the Low-Risk TD group by 12 months on multiple measures. The Non-TD group demonstrated atypical development in cognitive, motor, language, and social domains, with differences particularly prominent in the social-communication domain.Conclusions These results demonstrate that features of atypical development, consistent with the broader autism phenotype, are detectable by the first birthday and affect development in multiple domains. This highlights the necessity for close developmental surveillance of infant siblings of children with ASD, along with implementation of appropriate interventions as needed.

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  • The positive predictive value findings from this high risk study are probably conservative in nature due to the likelihood that the HR-ASD group is milder than those who are clinically-referred and diagnosed with ASD at 24 months of age, and that HR-Neg groups are known to be more heterogeneous with respect to later development of cognitive, behavioral, social-communication and motor deficits than

    “The positive predictive value findings from this high risk study are probably conservative in nature due to the likelihood that our HR-ASD group is milder than those who are clinically-referred and diagnosed with ASD at 24 months of age, and that HR-Neg groups are known to be more heterogeneous with respect to later development of cognitive, behavioral, social-communication and motor deficits than”

    From Early brain development in infants at high risk for autism spectrum disorder (2017) · cites this paper as [33]

    The Abstract and Discussion (page numbers unavailable) describe heterogeneity among high-risk children without ASD and differences across cognitive, motor, behavioral, and social-communication development. The paper does not establish that the citing study’s positive predictive values are conservative or that its HR-ASD group is milder than children clinically referred and diagnosed at 24 months. (LLM, conf=0.83)

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  • HR siblings who did not go on to have ASD showed higher levels of atypical behaviour at 7 m (visual tracking) and 14 m (orientation to name) compared to LR controls.

    “Furthermore, in line with the BAP concept (Georgiades et al., 2013; Ozonoff et al., 2014), HR siblings who did not go on to have an ASD also showed higher levels of atypical behaviour at 7 m (visual tracking) and 14 m (orientation to name), compared to LR controls.”

    From Behavioural markers for autism in infancy: Scores on the Autism Observational Scale for Infants in a prospective study of at-risk siblings (2015) · cites this paper as Ozonoff et al., 2014

  • Some atypicalities are found only in HR siblings who go on to have ASD but others are also found in HR siblings who do not, supporting the notion of an early broader autism phenotype.

    “Some of these atypicalities are found only in HR siblings who go on to have ASD but others are also found in HR siblings who do not, supporting the notion of an early broader autism phenotype (Georgiades et al., 2013; Ozonoff et al., 2014).”

    From Behavioural markers for autism in infancy: Scores on the Autism Observational Scale for Infants in a prospective study of at-risk siblings (2015) · cites this paper as Ozonoff et al., 2014

  • Early atypical behaviours still discriminated between infants who went on to have ASD and those who did not, even when covarying for developmental differences.

    “It is increasingly apparent, consistent with the phenotype of ASD, that both developmental and language delays are part of the BAP at a group level (Messinger et al., 2013; Ozonoff et al., 2014) and, whilst covarying for these differences one might be taking out some of the variance of interest, early atypical behaviours still discriminated between the infants who went on to have ASD and those who”

    From Behavioural markers for autism in infancy: Scores on the Autism Observational Scale for Infants in a prospective study of at-risk siblings (2015) · cites this paper as Ozonoff et al., 2014

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Authors
Ozonoff, S., Young, G. S., Belding, A., Hill, M., Hill, A., Hutman, T., Johnson, S., Miller, M., Rogers, S. J., Schwichtenberg, A. J., Steinfeld, M., & Iosif, A.-M.
Affiliations
  • University of California, Davis (US)
  • University of California, Los Angeles (US)
  • Purdue University West Lafayette (US)
Corresponding author
Ozonoff, Sally
ORCID
Venue
Journal of the American Academy of Child & Adolescent Psychiatry
Publisher
Elsevier BV
Published
2014-04
Volume
53
Issue
4
Pages
398-407.e2
ISSN
0890-8567 (ISSN-L)
DOI
10.1016/j.jaac.2013.12.020
PMC
PMC3989934
OpenAlex
W2000857924
Cited by
319
References
31
Citations by year
2026: 17 · 2025: 23 · 2024: 28 · 2023: 14 · 2022: 26 · 2021: 34 · 2020: 29 · 2019: 29 · 2018: 39 · 2017: 26 · 2016: 14 · 2015: 29 · 2014: 11
FWCI
14.87
Type
journal article
Language
en
Open access
Licence
www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations
  • Journal of the American Academy of Child & Adolescent Psychiatry (publishedVersion)
  • PubMed (publishedVersion)
  • Europe PMC (PubMed Central) (acceptedVersion)
  • PubMed Central (acceptedVersion)
  • eScholarship (California Digital Library) (submittedVersion)
Funders
  • Purdue University
  • National Institute of Mental Health (R01MH068398, R00MH092431, MH068172, R01MH121416, T32MH073124, R01 MH0638398, U54MH068172)
Topics
  • Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Health Sciences › Medicine › Psychiatry and Mental health › Child Nutrition and Feeding Issues
Keywords
broader autism phenotype, autism spectrum disorder, infant siblings, atypical development, child development monitoring, social communication, cognitive development, motor development, language development, high-risk infants
MeSH terms
Age Factors, Child Development Disorders, Pervasive, Child, Preschool, Female, Humans, Infant, Male, Phenotype, Genetic Predisposition to Disease, Siblings

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