Improving the Diagnosis of Autism Spectrum Disorder in Fragile X Syndrome by Adapting the Social Communication Questionnaire and the Social Responsiveness Scale-2

Abstract

We carried out a psychometric assessment of the Social Communication Questionnaire (SCQ) and the Social Responsiveness Scale (SRS-2) in fragile X syndrome (FXS), relative to clinician DSM5-based diagnosis of autism spectrum disorder (ASD) in FXS. This was followed by instrument revisions that included: removal of non-discriminating and/or low face validity items for FXS; use of receiver operating characteristic (ROC) curves to determine optimal cut points for the original and revised measures; an exploratory factor analysis to outline subscales better representing ASD in FXS; and creation of a “triple criteria” diagnosis to better delineate ASD subgroups in FXS. These methods improved the sensitivity and/or specificity of the SCQ and SRS-2, but diagnostic accuracy of ASD remains problematic in FXS.

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Acknowledgments

This publication was supported by cooperative agreements #U01DD000231, #U19DD000753 and # U01DD001189, Funded by the Centers for Disease Control and Prevention. Its contents are solely the responsibility of the authors and do not necessarily represent the official views of the Centers for Disease Control and Prevention or the Department of Health and Human Services. We thank the families and individuals with fragile X syndrome that contributed their information to the FORWARD Registry and Database.

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SAK conceived of the study, participated in its design and coordination, participated in the interpretation and drafting of results, and drafted the manuscript. EBK conceived of the study, participated in its design and coordination, and drafted the manuscript. THC performed the statistical analyses and assisted in interpretation of results. CC performed the statistical analyses and assisted in interpretation of results. AE assisted in drafting the manuscript and assisted with measurement issues. AH assisted in drafting the manuscript and assisted with measurement issues. HFA oversaw the statistical analyses and assisted with drafting the manuscript. WEK conceived of the study, participated in its design and coordination, participated in the interpretation and drafting of results, and drafted the manuscript. All authors read and approved the final manuscript.

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Correspondence to Sharon A. Kidd.

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All procedures 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.

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Informed consent was obtained from all individual participants or their guardian(s) included in the study after the nature of the procedure had been fully explained.

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Kidd, S.A., Berry-Kravis, E., Choo, T.H. et al. Improving the Diagnosis of Autism Spectrum Disorder in Fragile X Syndrome by Adapting the Social Communication Questionnaire and the Social Responsiveness Scale-2. J Autism Dev Disord 50, 3276–3295 (2020). https://doi.org/10.1007/s10803-019-04148-0

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Keywords

  • Autism spectrum disorder
  • Fragile X syndrome
  • Social Communication Questionnaire
  • Social Responsiveness Scale-2
  • Receiver operating characteristic curves
  • Exploratory factor analysis