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A Danish population-based twin study on autism spectrum disorders

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Abstract

Genetic epidemiological studies of Autism Spectrum Disorders (ASDs) based on twin pairs ascertained from the population and thoroughly assessed to obtain a high degree of diagnostic validity are few. All twin pairs aged 3–14 years in the nationwide Danish Twin Registry were approached. A three-step procedure was used. Five items from the “Child Behaviour Checklist” (CBCL) were used in the first screening phase, while screening in the second phase included the “Social and Communication Questionnaire” and the “Autism Spectrum Screening Questionnaire”. The final clinical assessment was based on “gold standard” diagnostic research procedures including diagnostic interview, observation and cognitive examination. Classification was based on DSM-IV-TR criteria. The initial sample included 7,296 same-sexed twin pairs and, after two phases of screening and clinical assessment, the final calculations were based on 36 pairs. The probandwise concordance rate for ASD was 95.2 % in monozygotic (MZ) twins (n = 13 pairs) and 4.3 % in dizygotic (DZ) twins (n = 23 pairs). The high MZ and low DZ concordance rate support a genetic aetiology to ASDs.

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Acknowledgments

We are very grateful to all the twin families who participated in this study. The study has been supported by grants from the Danish Research Council, the Psychiatric Research Foundation in the Region of Southern Denmark, the Clinical Institute at University of Southern Denmark, the Beatrice Surovell Haskell Foundation for Child Mental Health Research of Copenhagen and the Ludvig and Sara Elsass Foundation.

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On behalf of all authors, the corresponding author states that there is no conflict of interest.

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Correspondence to Claudia Nordenbæk.

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Nordenbæk, C., Jørgensen, M., Kyvik, K.O. et al. A Danish population-based twin study on autism spectrum disorders. Eur Child Adolesc Psychiatry 23, 35–43 (2014). https://doi.org/10.1007/s00787-013-0419-5

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