The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population
Open accessAbstract
Background Deletion of the recurrent ~600 kb BP4-BP5 chromosomal region 16p11.2 has been associated with a wide range of neurodevelopmental outcomes.Methods To clarify the phenotype of 16p11.2 deletion, we examined the psychiatric and developmental presentation of predominantly clinically referred individuals, with a particular emphasis on broader autism phenotype characteristics in individuals with recurrent ~600 kb chromosome 16p11.2 deletions. Using an extensive standardized assessment battery across three clinical sites, 85 individuals with the 16p11.2 deletion and 153 familial control subjects were evaluated for symptom presentation and clinical diagnosis.Results Individuals with the 16p11.2 deletion presented with a high frequency of psychiatric and developmental disorders (>90%). The most commonly diagnosed conditions were developmental coordination disorder, phonologic processing disorder, expressive and receptive language disorders (71% of individuals >3 years old with a speech and language-related disorder), and autism spectrum disorder. Individuals with the 16p11.2 deletion not meeting diagnostic criteria for autism spectrum disorder had a significantly higher prevalence of autism-related characteristics compared with the familial noncarrier control group. Individuals with the 16p11.2 deletion had a range of intellectual ability, but IQ scores were 26 points lower than noncarrier family members on average.Conclusions Clinically referred individuals with the 16p11.2 deletion have high rates of psychiatric and developmental disorders and provide a genetically well-defined group to study the emergence of developmental difficulties, particularly associated with the broader autism phenotype.
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Speech articulation abnormalities, phonological processing disorder, language or communication disorder, speech or language deficits, and speech delay are present at high rates in 16p11.2 deletion carriers.
“Speech articulation abnormalities [36], phonological processing disorder [21, 23], language or communication disorder [14, 21, 23], speech or language deficits [15, 16], and speech delay [17, 33] are present at high rates in deletion carriers.”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [21]
Developmental coordination disorder is reported at rates of 32% and 57.7% in 16p11.2 deletion carriers, and 46.8% in duplication carriers.
“Developmental coordination disorder is reported at rates of 32% [23] and 57.7% [21] in deletion carriers, and 46.8% in duplication carriers [19].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [21]
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D’Angelo, D., Lebon, S., Chen, Q., Martin-Brevet, S., Snyder, L. G., Hippolyte, L., Hanson, E., Maillard, A. M., Faucett, W. A., Macé, A., et al. (2016) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2015.2123 · Cited by 277 · see citing works
Self-citation
- Authors
- Hanson, E., Bernier, R., Porche, K., Jackson, F. I., Goin-Kochel, R. P., Snyder, L. G., Snow, A. V., Wallace, A. S., Campe, K. L., Zhang, Y., Chen, Q., D’Angelo, D., Moreno-De-Luca, A., Orr, P. T., Boomer, K. B., Evans, D. W., Kanne, S., Berry, L., Miller, F. K., Olson, J., Sherr, E., Martin, C. L., Ledbetter, D. H., Spiro, J. E., & Chung, W. K.
- Affiliations
- Boston Children's Hospital (US)
- University of Washington (US)
- Columbia University (US)
- Autism & Developmental Medicine Institute (US)
- Bucknell University (US)
- University of Missouri (US)
- Baylor College of Medicine (US)
- University of California, San Francisco (US)
- Simons Foundation (US)
- Corresponding author
- Hanson, Ellen
- ORCID
- Venue
- Biological Psychiatry
- Publisher
- Elsevier BV
- Published
- 2015-05
- Volume
- 77
- Issue
- 9
- Pages
- 785-793
- ISSN
- 0006-3223 (ISSN-L)
- PMC
- PMC5410712
- OpenAlex
- W2111234698
- Cited by
- 277
- References
- 61
- Citations by year
- 2026: 13 · 2025: 11 · 2024: 23 · 2023: 16 · 2022: 17 · 2021: 24 · 2020: 23 · 2019: 23 · 2018: 58 · 2017: 32 · 2016: 13 · 2015: 19 · 2014: 5
- FWCI
- 15.07
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Biological Psychiatry (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- Simons Foundation (198677)
- WKC and Simons Foundation Autism Research Initiative (312100)
- National Institutes of Health (MH074090)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- 16p11.2 deletion, chromosome 16p11.2, broader autism phenotype, autism spectrum disorder, developmental coordination disorder, language disorders, intellectual disability, psychiatric comorbidity, neurodevelopmental disorders, cognitive phenotypes
- MeSH terms
- Adolescent, Mental Disorders, Child, Developmental Disabilities, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 16, Cognition, Heterozygote, Humans, Intelligence, Phenotype, Young Adult
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