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Neurological outcome of patients with cryopyrin-associated periodic syndrome (CAPS)

Overview of attention for article published in Orphanet Journal of Rare Diseases, February 2017
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Title
Neurological outcome of patients with cryopyrin-associated periodic syndrome (CAPS)
Published in
Orphanet Journal of Rare Diseases, February 2017
DOI 10.1186/s13023-017-0589-1
Pubmed ID
Authors

Nafissa Mamoudjy, Hélène Maurey, Isabelle Marie, Isabelle Koné-Paut, Kumaran Deiva

Abstract

To assess the neurological involvement and outcome, including school and professional performances, of adults and children with cryopyrin-associated periodic syndrome (CAPS). In this observational study, patients with genetically proven CAPS and followed in the national referral centre for autoinflammatory diseases at Bicêtre hospital were assessed. Neurological manifestations, CSF data and MRI results at diagnosis and during follow-up were analyzed. Twenty-four patients (15 adults and 9 children at diagnosis) with CAPS were included. The median age at disease onset was 0 year (birth) [range 0-14], the median age at diagnosis was 20 years [range 0-53] and the mean duration of follow-up was 10.4 ± 2 years. Neurological involvement at diagnosis, mostly headaches and hearing loss, was noted in 17 patients (71%). Two patients of the same family had abnormal brain MRI. A439V mutation is frequently associated with a non-neurological phenotype while R260W mutation tends to be associated with neurological involvement. Eleven adult patients (61%) and 3 children (50%) underwent school difficulties. Neurological involvement is frequent in patients with CAPS and the majority of patients presented difficulties in school performances with consequences in the professional outcome during adulthood. Further studies in larger cohorts of children with CAPS focusing in intellectual efficiency and school performances are necessary.

Twitter Demographics

The data shown below were collected from the profiles of 2 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 41 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 41 100%

Demographic breakdown

Readers by professional status Count As %
Other 7 17%
Student > Bachelor 4 10%
Student > Ph. D. Student 4 10%
Student > Master 4 10%
Researcher 3 7%
Other 8 20%
Unknown 11 27%
Readers by discipline Count As %
Medicine and Dentistry 17 41%
Neuroscience 4 10%
Biochemistry, Genetics and Molecular Biology 2 5%
Energy 1 2%
Business, Management and Accounting 1 2%
Other 2 5%
Unknown 14 34%

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 03 January 2019.
All research outputs
#11,517,116
of 15,077,753 outputs
Outputs from Orphanet Journal of Rare Diseases
#1,242
of 1,620 outputs
Outputs of similar age
#235,278
of 357,481 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#21
of 31 outputs
Altmetric has tracked 15,077,753 research outputs across all sources so far. This one is in the 20th percentile – i.e., 20% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,620 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.3. This one is in the 17th percentile – i.e., 17% of its peers scored the same or lower than it.
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We're also able to compare this research output to 31 others from the same source and published within six weeks on either side of this one. This one is in the 25th percentile – i.e., 25% of its contemporaries scored the same or lower than it.