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22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening

Overview of attention for article published in Molecular Autism, May 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 (93rd percentile)

Mentioned by

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48 tweeters
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4 Facebook pages

Citations

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52 Dimensions

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156 Mendeley
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Title
22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening
Published in
Molecular Autism, May 2016
DOI 10.1186/s13229-016-0090-z
Pubmed ID
Authors

Tara L. Wenger, Judith S. Miller, Lauren M. DePolo, Ashley B. de Marchena, Caitlin C. Clements, Beverly S. Emanuel, Elaine H. Zackai, Donna M. McDonald-McGinn, Robert T. Schultz

Abstract

Widespread use of microarray technology has led to increasing identification of 22q11.2 duplication syndrome (22q11.2DupS), the reciprocal syndrome of the well-characterized 22q11.2 deletion syndrome (22q11.2DS). Individuals with 22q11.2DS have elevated rates of community diagnoses of autism spectrum disorder (ASD), schizophrenia, and a range of medical problems and birth defects that necessitate extensive medical screening. Case reports of 22q11.2DupS include patients with ASD, fewer medical problems, and no schizophrenia; however, no prospective cohort study has been reported. The goals of the study were to (1) characterize the neuropsychiatric functioning of a cohort of individuals with 22q11.2DupS in comparison to large samples of typically developing controls (TDCs), ASD and 22q11.2DS; (2) estimate the prevalence of ASD in 22q11.2DupS; (3) determine whether the indications that prompted the genetic testing in 22q11.2DupS differ from 22q11.2DS and (4) determine whether comprehensive medical screening should be recommended for those diagnosed with 22q11.2DupS. Medical characterization was done by parental questionnaire and medical chart review of individuals with 22q11.2DupS (n = 37) and 22q11.2DS (n = 101). Neuropsychiatric characterization of children with 22.11.2DupS, 22q11.2DS, TDCs, and ASD was done by parent-report questionnaires; in addition, the ASD and 22q11.2DupS groups received the Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule. Individuals with 22q11.2DupS, 22q11.2DS, and ASD had significantly impaired social interaction and adaptive behavior skills compared to TDCs. Overall, 38 % of children aged 2-18 with 22q11.2DupS had community diagnoses of ASD, but fewer (14-25 %) met on the basis of best clinical judgment that included ADI-R and ADOS data. Indications for genetic testing were significantly different for 22q11.2DupS and 22q11.2DS, with the deletions more commonly tested because of birth defects or medical problems, and the duplications because of developmental delay. However, when the screening protocol for 22q11.2DS was applied to the 22q11.2DupS sample, several medical problems were identified that would pose significant risk if left undetected. 22q11.2DupS has a high rate of ASD at 14-25 %, among the highest of any genetic disorder. Prospective medical screening should be done for all patients with 22q11.2DupS, including those diagnosed due to developmental delays and ASD alone.

Twitter Demographics

The data shown below were collected from the profiles of 48 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 156 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 1 <1%
Brazil 1 <1%
Unknown 154 99%

Demographic breakdown

Readers by professional status Count As %
Student > Master 27 17%
Researcher 20 13%
Student > Ph. D. Student 19 12%
Student > Bachelor 19 12%
Other 15 10%
Other 36 23%
Unknown 20 13%
Readers by discipline Count As %
Medicine and Dentistry 42 27%
Psychology 25 16%
Agricultural and Biological Sciences 14 9%
Biochemistry, Genetics and Molecular Biology 12 8%
Neuroscience 12 8%
Other 22 14%
Unknown 29 19%

Attention Score in Context

This research output has an Altmetric Attention Score of 36. 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 28 February 2021.
All research outputs
#801,395
of 19,783,996 outputs
Outputs from Molecular Autism
#83
of 619 outputs
Outputs of similar age
#16,822
of 275,929 outputs
Outputs of similar age from Molecular Autism
#1
of 3 outputs
Altmetric has tracked 19,783,996 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 95th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 619 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 28.9. This one has done well, scoring higher than 86% 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 275,929 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 93% of its contemporaries.
We're also able to compare this research output to 3 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them