Autism spectrum disorder, developmental and psychiatric features in 16p11.2 duplication
Abstract
The 16p11.2 duplication (BP4-BP5) is associated with Autism Spectrum Disorder (ASD), although significant heterogeneity exists. Quantitative ASD, behavioral and neuropsychological measures and DSM-IV diagnoses in child and adult carriers were compared with familial non-carrier controls, and to published results from deletion carriers. The 16p11.2 duplication phenotype ranges widely from asymptomatic presentation to significant disability. The most common diagnoses were intellectual disability, motor delays and Attention Deficit Hyperactivity Disorder in children, and anxiety in adults. ASD occurred in nearly 20 % of child cases, but a majority of carriers did not show the unique social features of ASD. The 16p11.2 duplication phenotype is characterized by wider variability than the reciprocal deletion, likely reflecting contributions from additional risk factors.
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De novo and inherited 16p11.2 duplication carriers show no differences in most clinical outcomes and on cognitive tests.
“De novo and inherited duplication carriers also show no differences in most clinical outcomes [19], and on cognitive tests [10].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [19]
In studies with at least 50 subjects, 60-76% of 16p11.2 deletions were reported as de novo, while only 16-29% of 16p11.2 duplications occurred de novo.
“In studies with at least 50 subjects, between 60–76% of 16p11.2 deletions were reported as de novo events [10, 12, 34, 36], while only 16–29% of 16p11.2 duplications occurred de novo [10, 19, 34, 36].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [19]
Higher variability in FSIQ scores is observed among 16p11.2 duplication carriers than deletion carriers.
“Higher variability in FSIQ scores is observed among duplication carriers than deletion carriers [10, 19], suggesting a broader range of cognitive impairments in duplication patients.”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [19]
Several supporting studies also reported lower FSIQ scores in 16p11.2 deletion and duplication patients than in intrafamilial controls.
“Several supporting studies also reported lower FSIQ scores in 16p11.2 deletion [12, 35] and duplication [19, 35] patients than intrafamilial controls.”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [19]
In one group of 16p11.2 duplication carriers, FSIQ scores ranged from 33 to 129, with 17% showing severe impairment (<55) and 33% falling within the average range or better.
“In one group of 16p11.2 duplication carriers, FSIQ scores range from 33–129, with 17% displaying severe impairment (<55), while 33% fall within the average range or better [19].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [19]
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 [19]
16p11.2 duplications are similarly associated with speech articulation abnormalities, speech delay, and language deficits.
“Duplications are similarly associated with speech articulation abnormalities [36], speech delay [17, 19], and language deficits [16].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [19]
16p11.2 deletions and duplications are linked to depression and anxiety.
“16p11.2 deletions and duplications are linked to several other psychiatric conditions, including depression [14, 47] and anxiety [12, 14, 18, 19, 23, 34].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [19]
ADHD is observed in 16p11.2 CNV carriers at rates as high as 29% (63/217) in deletion carriers and 42% (48/114) in duplication carriers.
“Attention-deficit/hyperactivity disorder (ADHD) is also observed in 16p11.2 CNV carriers [12, 15–17, 19, 23, 48], at rates as high as 29% (63/217) and 42% (48/114) in deletion and duplication carriers, respectively [34].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [19]
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- Authors
- on behalf of the Simons VIP consortium, Green Snyder, L., D’Angelo, D., Chen, Q., Bernier, R., Goin-Kochel, R. P., Wallace, A. S., Gerdts, J., Kanne, S., Berry, L., Blaskey, L., Kuschner, E., Roberts, T., Sherr, E., Martin, C. L., Ledbetter, D. H., Spiro, J. E., Chung, W. K., & Hanson, E.
- Affiliations
- Columbia University (US)
- University of Washington (US)
- University of Missouri (US)
- Baylor College of Medicine (US)
- Children's Hospital of Philadelphia (US)
- University of California, San Francisco (US)
- Autism & Developmental Medicine Institute (US)
- Simons Foundation (US)
- Boston Children's Hospital (US)
- ORCID
- Venue
- Journal of Autism and Developmental Disorders
- Published
- 2016-05-21
- Volume
- 46
- Issue
- 8
- Pages
- 2734-2748
- ISSN
- 0162-3257 (ISSN-L)
- 1573-3432
- OpenAlex
- W2406728433
- Cited by
- 61
- References
- 75
- Citations by year
- 2026: 2 · 2025: 2 · 2024: 11 · 2023: 6 · 2022: 1 · 2021: 3 · 2020: 11 · 2019: 9 · 2018: 9 · 2017: 7
- FWCI
- 6.73
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Journal of Autism and Developmental Disorders (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Simons Foundation (198677)
- 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 duplication, autism spectrum disorder, intellectual disability, motor delay, attention deficit hyperactivity disorder, anxiety, phenotypic heterogeneity, neuropsychological characteristics, behavioral characteristics, children and adults
- MeSH terms
- Autism Spectrum Disorder, Adolescent, Adult, Autistic Disorder, Child, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 16, Female, Humans, Infant, Male, Intellectual Disability, Phenotype, Gene Duplication, Chromosome Disorders
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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