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Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring

Overview of attention for article published in Journal of Neurodevelopmental Disorders, October 2014
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • Among the highest-scoring outputs from this source (#36 of 269)
  • High Attention Score compared to outputs of the same age (91st percentile)

Mentioned by

blogs
1 blog
twitter
6 tweeters
facebook
5 Facebook pages
wikipedia
1 Wikipedia page

Citations

dimensions_citation
40 Dimensions

Readers on

mendeley
94 Mendeley
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Title
Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring
Published in
Journal of Neurodevelopmental Disorders, October 2014
DOI 10.1186/1866-1955-6-39
Pubmed ID
Authors

Alexander Kolevzon, Benjamin Angarita, Lauren Bush, A Ting Wang, Yitzchak Frank, Amy Yang, Robert Rapaport, Jeffrey Saland, Shubhika Srivastava, Cristina Farrell, Lisa J Edelmann, Joseph D Buxbaum

Abstract

Autism spectrum disorder (ASD) and intellectual disability (ID) can be caused by mutations in a large number of genes. One example is SHANK3 on the terminal end of chromosome 22q. Loss of one functional copy of SHANK3 results in 22q13 deletion syndrome or Phelan-McDermid syndrome (PMS) and causes a monogenic form of ASD and/or ID with a frequency of 0.5% to 2% of cases. SHANK3 is the critical gene in this syndrome, and its loss results in disruption of synaptic function. With chromosomal microarray analyses now a standard of care in the assessment of ASD and developmental delay, and with the emergence of whole exome and whole genome sequencing in this context, identification of PMS in routine clinical settings will increase significantly. However, PMS remains a rare disorder, and the majority of physicians have never seen a case. While there is agreement about core deficits of PMS, there have been no established parameters to guide evaluation and medical monitoring of the syndrome. Evaluations must include a thorough history and physical and dysmorphology examination. Neurological deficits, including the presence of seizures and structural brain abnormalities should be assessed as well as motor deficits. Endocrine, renal, cardiac, and gastrointestinal problems all require assessment and monitoring in addition to the risk of recurring infections, dental and vision problems, and lymphedema. Finally, all patients should have cognitive, behavioral, and ASD evaluations. The objective of this paper is to address this gap in the literature and establish recommendations to assess the medical, genetic, and neurological features of PMS.

Twitter Demographics

The data shown below were collected from the profiles of 6 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 94 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 1 1%
Unknown 93 99%

Demographic breakdown

Readers by professional status Count As %
Researcher 17 18%
Student > Master 13 14%
Student > Ph. D. Student 12 13%
Student > Doctoral Student 11 12%
Unspecified 10 11%
Other 31 33%
Readers by discipline Count As %
Medicine and Dentistry 33 35%
Unspecified 19 20%
Neuroscience 15 16%
Agricultural and Biological Sciences 9 10%
Biochemistry, Genetics and Molecular Biology 8 9%
Other 10 11%

Attention Score in Context

This research output has an Altmetric Attention Score of 16. 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 03 October 2017.
All research outputs
#886,629
of 12,819,898 outputs
Outputs from Journal of Neurodevelopmental Disorders
#36
of 269 outputs
Outputs of similar age
#17,770
of 212,629 outputs
Outputs of similar age from Journal of Neurodevelopmental Disorders
#1
of 1 outputs
Altmetric has tracked 12,819,898 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 93rd percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 269 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 9.4. 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 212,629 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 1 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