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Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review

Overview of attention for article published in Orphanet Journal of Rare Diseases, July 2017
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (88th percentile)
  • High Attention Score compared to outputs of the same age and source (91st percentile)

Mentioned by

news
1 news outlet
blogs
1 blog
twitter
5 tweeters

Citations

dimensions_citation
74 Dimensions

Readers on

mendeley
195 Mendeley
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Title
Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review
Published in
Orphanet Journal of Rare Diseases, July 2017
DOI 10.1186/s13023-017-0671-8
Pubmed ID
Authors

Ingrid E. C. Verhaart, Agata Robertson, Ian J. Wilson, Annemieke Aartsma-Rus, Shona Cameron, Cynthia C. Jones, Suzanne F. Cook, Hanns Lochmüller

Abstract

Spinal muscular atrophy linked to chromosome 5q (SMA) is a recessive, progressive, neuromuscular disorder caused by bi-allelic mutations in the SMN1 gene, resulting in motor neuron degeneration and variable presentation in relation to onset and severity. A prevalence of approximately 1-2 per 100,000 persons and incidence around 1 in 10,000 live births have been estimated with SMA type I accounting for around 60% of all cases. Since SMA is a relatively rare condition, studies of its prevalence and incidence are challenging. Most published studies are outdated and therefore rely on clinical rather than genetic diagnosis. Furthermore they are performed in small cohorts in small geographical regions and only study European populations. In addition, the heterogeneity of the condition can lead to delays and difficulties in diagnosing the condition, especially outside of specialist clinics, and contributes to the challenges in understanding the epidemiology of the disease. The frequency of unaffected, heterozygous carriers of the SMN1 mutations appears to be higher among Caucasian and Asian populations compared to the Black (Sub-Saharan African ancestry) population. However, carrier frequencies cannot directly be translated into incidence and prevalence, as very severe (death in utero) and very mild (symptom free in adults) phenotypes carrying bi-allelic SMN1 mutations exist, and their frequency is unknown. More robust epidemiological data on SMA covering larger populations based on accurate genetic diagnosis or newborn screening would be helpful to support planning of clinical studies, provision of care and therapies and evaluation of outcomes.

Twitter Demographics

The data shown below were collected from the profiles of 5 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 195 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 195 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 31 16%
Student > Master 31 16%
Student > Bachelor 27 14%
Other 21 11%
Student > Ph. D. Student 19 10%
Other 27 14%
Unknown 39 20%
Readers by discipline Count As %
Medicine and Dentistry 45 23%
Biochemistry, Genetics and Molecular Biology 25 13%
Neuroscience 19 10%
Pharmacology, Toxicology and Pharmaceutical Science 12 6%
Agricultural and Biological Sciences 11 6%
Other 32 16%
Unknown 51 26%

Attention Score in Context

This research output has an Altmetric Attention Score of 18. 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 December 2019.
All research outputs
#957,044
of 14,083,883 outputs
Outputs from Orphanet Journal of Rare Diseases
#80
of 1,546 outputs
Outputs of similar age
#30,400
of 264,138 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#1
of 12 outputs
Altmetric has tracked 14,083,883 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 1,546 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.2. This one has done particularly well, scoring higher than 94% 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 264,138 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 88% of its contemporaries.
We're also able to compare this research output to 12 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 91% of its contemporaries.