Autism Spectrum Symptomatology Among Children with Duplication 7q11.23 Syndrome
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Gold-standard diagnostic assessments of autism spectrum disorder (ASD) symptomatology were conducted on 63 children (mean CA: 8.81 years) with 7q11.23 duplication syndrome, one of the copy number variants identified by Sanders et al. (Neuron 70:863–885, 2011a) as associated with ASD. ASD classification rate was 39.6% for the Autism Diagnostic Interview-Revised and 25.4% for the Autism Diagnostic Observation Schedule-2 (ADOS-2). Based on these assessments combined with clinical judgment, 19.0% of children were diagnosed with ASD. Reasons for these discrepancies are discussed, as are differences in rate of diagnosis as a function of sex, age, and ADOS-2 module administered and differences in intellectual and adaptive behavior abilities as a function of presence or absence of ASD diagnosis and ADOS-2 module administered. Implications are addressed.
Keywords7q11.23 duplication syndrome Autism spectrum disorders Social anxiety Selective mutism
This project was supported by a grant from the Simons Foundation (SFARI award #238896). We would like to thank the children and parents who participated in this study; their generosity made this research possible. We also would like to thank Kristin Smith, Brianna Yund, and the members of the Neurodevelopmental Sciences Laboratory (especially C. Holley Pitts) for assistance with data collection and statistical analyses.
BPKT and CBM conceptualized and designed the study. CBM coordinated participant recruitment, conducted the adaptive behavior interviews, and supervised the intellectual and language testing. BPKT conducted and/or oversaw all ASD-related assessments and the ADIS-P interviews. BPKT conducted the analyses and BPKT and CBM worked together on interpretation of the results. BPKT drafted the manuscript which was reviewed and edited together with CBM. Both authors read and approved the final manuscript.
Compliance with Ethical Standards
Conflict of interest
The authors declare that they have no conflict of interest to report.
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.
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