Archival ReportThe Cognitive and Behavioral Phenotype of the 16p11.2 Deletion in a Clinically Ascertained Population
Section snippets
Subjects
Subjects included individuals with the same recurrent 600 kb BP4-BP5 16p11.2 deletion without other pathogenic CNVs or known genetic diagnoses, the biological siblings of the individual with the deletion, and the biological parents of the individual with the deletion (Table 1). Siblings were selected for participation based on closeness in age to the carrier. One half-sibling was included. Adoptive parents were not used as control subjects but were interviewed for information about their
Psychiatric Diagnoses
Individuals with the 16p11.2 deletion presented with multiple psychiatric comorbid disorders (Figures S1 and S2 in Supplement 1): 93% of carriers had at least one diagnosis compared with only 21% of control subjects. Developmental coordination disorder, phonological processing disorder, language disorders, and ASD were the most common psychiatric diagnoses observed in carrier participants. Overall, there was a profile of speech and language–based disorders among the 16p11.2 deletion carriers,
Discussion
We performed detailed diagnostic, cognitive, and behavioral testing, including standardized ASD assessment, on individuals who were ascertained after clinical identification of the 16p11.2 deletion and family member cascade testing and compared them with familial control subjects. Our protocol addressed challenges in prior studies by way of standardization and comprehensive phenotyping. Our analyses clearly indicate that individuals with the deletion have a high frequency and range of
Acknowledgments and Disclosures
This work was supported by two grants from the Simons Foundation (Simons Foundation Autism Research Initiative Grant No. 198677 to EH, RB, RPG-K, and WKC and Simons Foundation Autism Research Initiative Grant No. 312100 to CLM, and DHL) and a grant from the National Institutes of Health (Grant No. MH074090 to DHL and CLM).
We thank all of the families at the participating Simons Variation in Individuals Project (Simons VIP) sites as well as the Simons VIP working group (Simons VIP consortium,
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