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

Abstract

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.

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Acknowledgments

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.

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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.

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Correspondence to Eric Rubenstein.

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Rubenstein, E., Edmondson Pretzel, R., Windham, G.C. et al. The Broader Autism Phenotype in Mothers is Associated with Increased Discordance Between Maternal-Reported and Clinician-Observed Instruments that Measure Child Autism Spectrum Disorder. J Autism Dev Disord 47, 3253–3266 (2017). https://doi.org/10.1007/s10803-017-3248-4

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Keywords

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