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Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

Overview of attention for article published in JAMA Psychiatry, January 2016
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  • In the top 5% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (99th percentile)
  • High Attention Score compared to outputs of the same age and source (84th percentile)

Mentioned by

news
21 news outlets
blogs
1 blog
twitter
21 tweeters
facebook
6 Facebook pages

Citations

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126 Dimensions

Readers on

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205 Mendeley
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Title
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities
Published in
JAMA Psychiatry, January 2016
DOI 10.1001/jamapsychiatry.2015.2123
Pubmed ID
Authors

Debra D’Angelo, Sébastien Lebon, Qixuan Chen, Sandra Martin-Brevet, LeeAnne Green Snyder, Loyse Hippolyte, Ellen Hanson, Anne M. Maillard, W. Andrew Faucett, Aurélien Macé, Aurélie Pain, Raphael Bernier, Samuel J. R. A. Chawner, Albert David, Joris Andrieux, Elizabeth Aylward, Genevieve Baujat, Ines Caldeira, Philippe Conus, Carrina Ferrari, Francesca Forzano, Marion Gérard, Robin P. Goin-Kochel, Ellen Grant, Jill V. Hunter, Bertrand Isidor, Aurélia Jacquette, Aia E. Jønch, Boris Keren, Didier Lacombe, Cédric Le Caignec, Christa Lese Martin, Katrin Männik, Andres Metspalu, Cyril Mignot, Pratik Mukherjee, Michael J. Owen, Marzia Passeggeri, Caroline Rooryck-Thambo, Jill A. Rosenfeld, Sarah J. Spence, Kyle J. Steinman, Jennifer Tjernagel, Mieke Van Haelst, Yiping Shen, Bogdan Draganski, Elliott H. Sherr, David H. Ledbetter, Marianne B. M. van den Bree, Jacques S. Beckmann, John E. Spiro, Alexandre Reymond, Sébastien Jacquemont, Wendy K. Chung

Abstract

The 16p11.2 BP4-BP5 duplication is the copy number variant most frequently associated with autism spectrum disorder (ASD), schizophrenia, and comorbidities such as decreased body mass index (BMI). To characterize the effects of the 16p11.2 duplication on cognitive, behavioral, medical, and anthropometric traits and to understand the specificity of these effects by systematically comparing results in duplication carriers and reciprocal deletion carriers, who are also at risk for ASD. This international cohort study of 1006 study participants compared 270 duplication carriers with their 102 intrafamilial control individuals, 390 reciprocal deletion carriers, and 244 deletion controls from European and North American cohorts. Data were collected from August 1, 2010, to May 31, 2015 and analyzed from January 1 to August 14, 2015. Linear mixed models were used to estimate the effect of the duplication and deletion on clinical traits by comparison with noncarrier relatives. Findings on the Full-Scale IQ (FSIQ), Nonverbal IQ, and Verbal IQ; the presence of ASD or other DSM-IV diagnoses; BMI; head circumference; and medical data. Among the 1006 study participants, the duplication was associated with a mean FSIQ score that was lower by 26.3 points between proband carriers and noncarrier relatives and a lower mean FSIQ score (16.2-11.4 points) in nonproband carriers. The mean overall effect of the deletion was similar (-22.1 points; P < .001). However, broad variation in FSIQ was found, with a 19.4- and 2.0-fold increase in the proportion of FSIQ scores that were very low (≤40) and higher than the mean (>100) compared with the deletion group (P < .001). Parental FSIQ predicted part of this variation (approximately 36.0% in hereditary probands). Although the frequency of ASD was similar in deletion and duplication proband carriers (16.0% and 20.0%, respectively), the FSIQ was significantly lower (by 26.3 points) in the duplication probands with ASD. There also were lower head circumference and BMI measurements among duplication carriers, which is consistent with the findings of previous studies. The mean effect of the duplication on cognition is similar to that of the reciprocal deletion, but the variance in the duplication is significantly higher, with severe and mild subgroups not observed with the deletion. These results suggest that additional genetic and familial factors contribute to this variability. Additional studies will be necessary to characterize the predictors of cognitive deficits.

Twitter Demographics

The data shown below were collected from the profiles of 21 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 205 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Switzerland 1 <1%
Australia 1 <1%
United Kingdom 1 <1%
Spain 1 <1%
Luxembourg 1 <1%
Unknown 200 98%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 36 18%
Researcher 31 15%
Student > Master 29 14%
Student > Bachelor 21 10%
Other 17 8%
Other 45 22%
Unknown 26 13%
Readers by discipline Count As %
Medicine and Dentistry 46 22%
Psychology 30 15%
Agricultural and Biological Sciences 25 12%
Biochemistry, Genetics and Molecular Biology 22 11%
Neuroscience 21 10%
Other 25 12%
Unknown 36 18%

Attention Score in Context

This research output has an Altmetric Attention Score of 176. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 04 May 2019.
All research outputs
#94,759
of 14,854,534 outputs
Outputs from JAMA Psychiatry
#294
of 1,921 outputs
Outputs of similar age
#2,852
of 361,238 outputs
Outputs of similar age from JAMA Psychiatry
#10
of 65 outputs
Altmetric has tracked 14,854,534 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 99th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,921 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 95.9. This one has done well, scoring higher than 84% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 361,238 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 99% of its contemporaries.
We're also able to compare this research output to 65 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 84% of its contemporaries.