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Brain MR Imaging Findings and Associated Outcomes in Carriers of the Reciprocal Copy Number Variation at 16p11.2

Overview of attention for article published in Radiology, August 2017
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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 (96th percentile)
  • High Attention Score compared to outputs of the same age and source (92nd percentile)

Mentioned by

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10 news outlets
blogs
2 blogs
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14 X users
facebook
4 Facebook pages
googleplus
1 Google+ user

Citations

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29 Dimensions

Readers on

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132 Mendeley
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Title
Brain MR Imaging Findings and Associated Outcomes in Carriers of the Reciprocal Copy Number Variation at 16p11.2
Published in
Radiology, August 2017
DOI 10.1148/radiol.2017162934
Pubmed ID
Authors

Julia P Owen, Polina Bukshpun, Nicholas Pojman, Tony Thieu, Qixuan Chen, Jihui Lee, Debra D'Angelo, Orit A Glenn, Jill V Hunter, Jeffrey I Berman, Timothy P Roberts, Randy Buckner, Srikantan S Nagarajan, Pratik Mukherjee, Elliott H Sherr

Abstract

Purpose To identify developmental neuroradiologic findings in a large cohort of carriers who have deletion and duplication at 16p11.2 (one of the most common genetic causes of autism spectrum disorder [ASD]) and assess how these features are associated with behavioral and cognitive outcomes. Materials and Methods Seventy-nine carriers of a deletion at 16p11.2 (referred to as deletion carriers; age range, 1-48 years; mean age, 12.3 years; 42 male patients), 79 carriers of a duplication at 16p11.2 (referred to as duplication carriers; age range, 1-63 years; mean age, 24.8 years; 43 male patients), 64 unaffected family members (referred to as familial noncarriers; age range, 1-46 years; mean age, 11.7 years; 31 male participants), and 109 population control participants (age range, 6-64 years; mean age, 25.5 years; 64 male participants) were enrolled in this cross-sectional study. Participants underwent structural magnetic resonance (MR) imaging and completed cognitive and behavioral tests. MR images were reviewed for development-related abnormalities by neuroradiologists. Differences in frequency were assessed with a Fisher exact test corrected for multiple comparisons. Unsupervised machine learning was used to cluster radiologic features and an association between clusters and cognitive and behavioral scores from IQ testing, and parental measures of development were tested by using analysis of covariance. Volumetric analysis with automated segmentation was used to confirm radiologic interpretation. Results For deletion carriers, the most prominent features were dysmorphic and thicker corpora callosa compared with familial noncarriers and population control participants (16%; P < .001 and P < .001, respectively) and a greater likelihood of cerebellar tonsillar ectopia (30.7%; P < .002 and P < .001, respectively) and Chiari I malformations (9.3%; P < .299 and P < .002, respectively). For duplication carriers, the most salient findings compared with familial noncarriers and population control participants were reciprocally thinner corpora callosa (18.6%; P < .003 and P < .001, respectively), decreased white matter volume (22.9%; P < .001, and P < .001, respectively), and increased ventricular volume (24.3%; P < .001 and P < .001, respectively). By comparing cognitive assessments to imaging findings, the presence of any imaging feature associated with deletion carriers indicated worse daily living, communication, and social skills compared with deletion carriers without any radiologic abnormalities (P < .005, P < .002, and P < .004, respectively). For the duplication carriers, presence of decreased white matter, callosal volume, and/or increased ventricle size was associated with decreased full-scale and verbal IQ scores compared with duplication carriers without these findings (P < .007 and P < .004, respectively). Conclusion In two genetically related cohorts at high risk for ASD, reciprocal neuroanatomic abnormalities were found and determined to be associated with cognitive and behavioral impairments. (©) RSNA, 2017 Online supplemental material is available for this article.

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X Demographics

The data shown below were collected from the profiles of 14 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 132 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 132 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 18 14%
Student > Master 18 14%
Researcher 13 10%
Student > Bachelor 9 7%
Other 7 5%
Other 22 17%
Unknown 45 34%
Readers by discipline Count As %
Medicine and Dentistry 19 14%
Psychology 16 12%
Neuroscience 15 11%
Nursing and Health Professions 7 5%
Agricultural and Biological Sciences 6 5%
Other 17 13%
Unknown 52 39%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 89. 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 22 May 2020.
All research outputs
#479,056
of 25,382,440 outputs
Outputs from Radiology
#393
of 10,267 outputs
Outputs of similar age
#10,194
of 327,568 outputs
Outputs of similar age from Radiology
#6
of 79 outputs
Altmetric has tracked 25,382,440 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 98th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 10,267 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 20.2. This one has done particularly well, scoring higher than 96% 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 327,568 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 96% of its contemporaries.
We're also able to compare this research output to 79 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 92% of its contemporaries.