Journal of Autism and Developmental Disorders

, Volume 47, Issue 10, pp 3253–3266 | Cite as

The Broader Autism Phenotype in Mothers is Associated with Increased Discordance Between Maternal-Reported and Clinician-Observed Instruments that Measure Child Autism Spectrum Disorder

  • Eric Rubenstein
  • Rebecca Edmondson Pretzel
  • Gayle C. Windham
  • Laura A. Schieve
  • Lisa D. Wiggins
  • Carolyn DiGuiseppi
  • Andrew F. Olshan
  • Annie G. Howard
  • Brian W. Pence
  • Lisa Young
  • Julie Daniels
Original Paper


Autism spectrum disorder (ASD) diagnosis relies on parent-reported and clinician-observed instruments. Sometimes, results between these instruments disagree. The broader autism phenotype (BAP) in parent-reporters may be associated with discordance. Study to Explore Early Development data (N = 712) were used to address whether mothers with BAP and children with ASD or non-ASD developmental disabilities were more likely than mothers without BAP to ‘over-’ or ‘under-report’ child ASD on ASD screeners or interviews compared with clinician observation or overall impression. Maternal BAP was associated with a child meeting thresholds on a maternal-reported screener or maternal interview when clinician ASD instruments or impressions did not (risk ratios: 1.30 to 2.85). Evidence suggests acknowledging and accounting for reporting discordances may be important when diagnosing ASD.


Autism Diagnostic Interview-Revised Autism Diagnostic Observation Schedule Autism spectrum disorder Broader autism phenotype Instrument discordance 



We would like to thank the families and children who participated in this research. Additionally, we would like to thank SEED principal investigators, co-investigators, project coordinators, and project staff. This work was funded by Autism Speaks Predoctoral Weatherstone Fellowship Grant 10052 and six cooperative agreements from the Centers for Disease Control and Prevention: Cooperative Agreement Number U10DD000180, Colorado Department of Public Health; Cooperative Agreement Number U10DD000181, Kaiser Foundation Research Institute (CA); Cooperative Agreement Number U10DD000182, University of Pennsylvania; Cooperative Agreement Number U10DD000183, Johns Hopkins University; Cooperative Agreement Number U10DD000184, University of North Carolina at Chapel Hill; and Cooperative Agreement Number U10DD000498, Michigan State University. The findings and conclusions in this report are those of the authors and do not necessarily represent the official position of the Centers for Disease Control and Prevention. This work was presented at the 2017 International Meeting for Autism Research in San Francisco, California and was part of Dr. Rubenstein’s doctoral dissertation.

Author’s Contributions

ER conceived, designed, analyzed, wrote, and edited the manuscript. RE, LA, LW, CD, GW, and LY aided in study design, editing, and reviewing the manuscript. AO, BP, AH, and consulted on methods and edited and reviewed the manuscript. JD contributed in formulating the research question, study design, writing and editing the manuscript.

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical Approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed Consent

Informed consent was obtained from all individual participants included in the study.

Supplementary material

10803_2017_3248_MOESM1_ESM.pdf (111 kb)
Supplementary material 1 (PDF 111 KB)


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Copyright information

© Springer Science+Business Media, LLC 2017

Authors and Affiliations

  • Eric Rubenstein
    • 1
  • Rebecca Edmondson Pretzel
    • 2
  • Gayle C. Windham
    • 3
  • Laura A. Schieve
    • 4
  • Lisa D. Wiggins
    • 4
  • Carolyn DiGuiseppi
    • 5
  • Andrew F. Olshan
    • 1
  • Annie G. Howard
    • 6
  • Brian W. Pence
    • 1
  • Lisa Young
    • 7
  • Julie Daniels
    • 1
  1. 1.Department of EpidemiologyUniversity of North Carolina Gillings School of Global Public HealthChapel HillUSA
  2. 2.University of North Carolina at Chapel Hill Center for Intellectual and Developmental DisabilitiesCarrboroUSA
  3. 3.Division of Environmental and Occupational Disease ControlCalifornia Department of Public HealthRichmondUSA
  4. 4.Centers for Disease Control and Prevention, National Center on Birth Defects and Developmental DisabilitiesAtlantaUSA
  5. 5.Department of EpidemiologyColorado School of Public HealthAuroraUSA
  6. 6.Department of BiostatisticsUniversity of North Carolina Gillings School of Global Public HealthChapel HillUSA
  7. 7.University of Pennsylvania School of NursingPhiladelphiaUSA

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