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Early onset intellectual disability in chromosome 22q11.2 deletion syndrome

Overview of attention for article published in Revista chilena de pediatría, September 2015
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Title
Early onset intellectual disability in chromosome 22q11.2 deletion syndrome
Published in
Revista chilena de pediatría, September 2015
DOI 10.1016/j.rchipe.2015.06.019
Pubmed ID
Authors

Marco Cascella, Maria Rosaria Muzio

Abstract

Chromosome 22q11.2 deletion syndrome, or DiGeorge syndrome, or velocardiofacial syndrome, is one of the most common multiple anomaly syndromes in humans. This syndrome is commonly caused by a microdelection from chromosome 22 at band q11.2. Although this genetic disorder may reflect several clinical abnormalities and different degrees of organ commitment, the clinical features that have driven the greatest amount of attention are behavioral and developmental features, because individuals with 22q11.2 deletion syndrome have a 30-fold risk of developing schizophrenia. There are differing opinions about the cognitive development, and commonly a cognitive decline rather than an early onset intellectual disability has been observed. We report a case of 22q11.2 deletion syndrome with both early assessment of mild intellectual disabilities and tetralogy of Fallot as the only physic manifestation.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 78 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 78 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 18 23%
Student > Bachelor 13 17%
Student > Doctoral Student 6 8%
Researcher 6 8%
Other 3 4%
Other 12 15%
Unknown 20 26%
Readers by discipline Count As %
Medicine and Dentistry 22 28%
Psychology 9 12%
Neuroscience 5 6%
Nursing and Health Professions 5 6%
Biochemistry, Genetics and Molecular Biology 3 4%
Other 6 8%
Unknown 28 36%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. 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 15 September 2015.
All research outputs
#20,011,936
of 25,457,858 outputs
Outputs from Revista chilena de pediatría
#370
of 645 outputs
Outputs of similar age
#191,843
of 280,063 outputs
Outputs of similar age from Revista chilena de pediatría
#8
of 13 outputs
Altmetric has tracked 25,457,858 research outputs across all sources so far. This one is in the 18th percentile – i.e., 18% of other outputs scored the same or lower than it.
So far Altmetric has tracked 645 research outputs from this source. They receive a mean Attention Score of 2.3. This one is in the 39th percentile – i.e., 39% of its peers scored the same or lower than it.
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 280,063 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 26th percentile – i.e., 26% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 13 others from the same source and published within six weeks on either side of this one. This one is in the 38th percentile – i.e., 38% of its contemporaries scored the same or lower than it.