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Neurogenetic analysis of childhood disintegrative disorder

Overview of attention for article published in Molecular Autism, April 2017
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  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (91st percentile)
  • Good Attention Score compared to outputs of the same age and source (78th percentile)

Mentioned by

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1 news outlet
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29 X users
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2 Facebook pages

Citations

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19 Dimensions

Readers on

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115 Mendeley
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Title
Neurogenetic analysis of childhood disintegrative disorder
Published in
Molecular Autism, April 2017
DOI 10.1186/s13229-017-0133-0
Pubmed ID
Authors

Abha R. Gupta, Alexander Westphal, Daniel Y. J. Yang, Catherine A. W. Sullivan, Jeffrey Eilbott, Samir Zaidi, Avery Voos, Brent C. Vander Wyk, Pam Ventola, Zainulabedin Waqar, Thomas V. Fernandez, A. Gulhan Ercan-Sencicek, Michael F. Walker, Murim Choi, Allison Schneider, Tammy Hedderly, Gillian Baird, Hannah Friedman, Cara Cordeaux, Alexandra Ristow, Frederick Shic, Fred R. Volkmar, Kevin A. Pelphrey

Abstract

Childhood disintegrative disorder (CDD) is a rare form of autism spectrum disorder (ASD) of unknown etiology. It is characterized by late-onset regression leading to significant intellectual disability (ID) and severe autism. Although there are phenotypic differences between CDD and other forms of ASD, it is unclear if there are neurobiological differences. We pursued a multidisciplinary study of CDD (n = 17) and three comparison groups: low-functioning ASD (n = 12), high-functioning ASD (n = 50), and typically developing (n = 26) individuals. We performed whole-exome sequencing (WES), copy number variant (CNV), and gene expression analyses of CDD and, on subsets of each cohort, non-sedated functional magnetic resonance imaging (fMRI) while viewing socioemotional (faces) and non-socioemotional (houses) stimuli and eye tracking while viewing emotional faces. We observed potential differences between CDD and other forms of ASD. WES and CNV analyses identified one or more rare de novo, homozygous, and/or hemizygous (mother-to-son transmission on chrX) variants for most probands that were not shared by unaffected sibling controls. There were no clearly deleterious variants or highly recurrent candidate genes. Candidate genes that were found to be most conserved at variant position and most intolerant of variation, such as TRRAP, ZNF236, and KIAA2018, play a role or may be involved in transcription. Using the human BrainSpan transcriptome dataset, CDD candidate genes were found to be more highly expressed in non-neocortical regions than neocortical regions. This expression profile was similar to that of an independent cohort of ASD probands with regression. The non-neocortical regions overlapped with those identified by fMRI as abnormally hyperactive in response to viewing faces, such as the thalamus, cerebellum, caudate, and hippocampus. Eye-tracking analysis showed that, among individuals with ASD, subjects with CDD focused on eyes the most when shown pictures of faces. Given that cohort sizes were limited by the rarity of CDD, and the challenges of conducting non-sedated fMRI and eye tracking in subjects with ASD and significant ID, this is an exploratory study designed to investigate the neurobiological features of CDD. In addition to reporting the first multimodal analysis of CDD, a combination of fMRI and eye-tracking analyses are being presented for the first time for low-functioning individuals with ASD. Our results suggest differences between CDD and other forms of ASD on the neurobiological as well as clinical level.

X Demographics

X Demographics

The data shown below were collected from the profiles of 29 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 115 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Brazil 1 <1%
Unknown 114 99%

Demographic breakdown

Readers by professional status Count As %
Researcher 17 15%
Student > Bachelor 16 14%
Student > Master 11 10%
Student > Ph. D. Student 9 8%
Student > Doctoral Student 8 7%
Other 23 20%
Unknown 31 27%
Readers by discipline Count As %
Psychology 21 18%
Medicine and Dentistry 18 16%
Neuroscience 10 9%
Agricultural and Biological Sciences 7 6%
Biochemistry, Genetics and Molecular Biology 6 5%
Other 21 18%
Unknown 32 28%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 29. 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 12 October 2023.
All research outputs
#1,327,813
of 25,390,970 outputs
Outputs from Molecular Autism
#125
of 718 outputs
Outputs of similar age
#24,596
of 299,281 outputs
Outputs of similar age from Molecular Autism
#4
of 14 outputs
Altmetric has tracked 25,390,970 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 94th percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 718 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 28.2. This one has done well, scoring higher than 82% 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 299,281 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 91% of its contemporaries.
We're also able to compare this research output to 14 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 78% of its contemporaries.