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Validation of Autism Diagnosis and Clinical Data in the SPARK Cohort

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Abstract

The SPARK cohort was established to facilitate recruitment in studies of large numbers of participants with autism spectrum disorder (ASD). Online registration requires participants to have received a lifetime professional diagnosis by health or school providers although diagnoses are not independently verified. This study was set to examine the validity of self- and caregiver-reported autism diagnoses. Electronic medical records (EMR) of 254 SPARK participants (77.6% male, age 10.7 years) were abstracted. Using two different methods, confirmation of ASD diagnosis in EMRs was obtained in 98.8% of cases. Core clinical features recorded in EMRs were typical of autism samples and showed very good agreement with SPARK cohort data, providing further evidence of the validity of clinical information in the SPARK database.

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Acknowledgments

The authors express their thanks to the SPARK team at the Simons Foundation, the SPARK consortium and the SPARK cohort participants. We appreciate obtaining access to phenotypic data on SFARI Base. Approved researchers can obtain the SPARK dataset described in this study by applying at https://base.sfari.org. The SPARK cohort is funded by the Simons Foundation. This project was initiated by the authors without specific or supplemental funding. The sponsor played no role in designing, executing or writing up the results of this analysis.

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Authors and Affiliations

  1. Department of Psychiatry, Oregon Health & Science University, Mail code: GH254, 3181 SW Sam Jackson Park Rd, Portland, OR, 97239, USA

    Eric Fombonne, Leigh Coppola & Sarah Mastel

  2. Department of Pediatrics, Oregon Health & Science University, Portland, USA

    Eric Fombonne

  3. Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, USA

    Brian J. O’Roak

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  1. Eric Fombonne
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  2. Leigh Coppola
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  4. Brian J. O’Roak
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Contributions

E.F. designed the study, analyzed the data and drafted the manuscript. L.C., S.M., E.F. collected the data. B.J.O, L.C. and S.M. edited the manuscript. All authors contributed to the final version of the manuscript and approved its content.

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Correspondence to Eric Fombonne.

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Fombonne, E., Coppola, L., Mastel, S. et al. Validation of Autism Diagnosis and Clinical Data in the SPARK Cohort. J Autism Dev Disord 52, 3383–3398 (2022). https://doi.org/10.1007/s10803-021-05218-y

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