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Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment

Overview of attention for article published in Orphanet Journal of Rare Diseases, October 2015
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  • In the top 25% of all research outputs scored by Altmetric
  • Good Attention Score compared to outputs of the same age (77th percentile)
  • High Attention Score compared to outputs of the same age and source (81st percentile)

Mentioned by

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4 tweeters
wikipedia
1 Wikipedia page

Citations

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24 Dimensions

Readers on

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52 Mendeley
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Title
Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment
Published in
Orphanet Journal of Rare Diseases, October 2015
DOI 10.1186/s13023-015-0358-y
Pubmed ID
Authors

Mercedes Serrano, Víctor de Diego, Jordi Muchart, Daniel Cuadras, Ana Felipe, Alfons Macaya, Ramón Velázquez, M. Pilar Poo, Carmen Fons, M. Mar O’Callaghan, Angels García-Cazorla, Cristina Boix, Bernabé Robles, Francisco Carratalá, Marisa Girós, Paz Briones, Laura Gort, Rafael Artuch, Celia Pérez-Cerdá, Jaak Jaeken, Belén Pérez, Belén Pérez-Dueñas

Abstract

Phosphomannomutase deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. The cerebellum is nearly always affected in PMM2-CDG patients, a cerebellar atrophy progression is observed, and cerebellar dysfunction is their main daily functional limitation. Different therapeutic agents are under development, and clinical evaluation of drug candidates will require a standardized score of cerebellar dysfunction. We aim to assess the validity of the International Cooperative Ataxia Rating Scale (ICARS) in children and adolescents with genetically confirmed PMM2-CDG deficiency. We compare ICARS results with the Nijmegen Pediatric CDG Rating Scale (NPCRS), neuroimaging, intelligence quotient (IQ) and molecular data. Our observational study included 13 PMM2-CDG patients and 21 control subjects. Ethical permissions and informed consents were obtained. Three independent child neurologists rated PMM2-CDG patients and control subjects using the ICARS. A single clinician administered the NPCRS. All patients underwent brain MRI, and the relative diameter of the midsagittal vermis was measured. Psychometric evaluations were available in six patients. The Mann-Whitney U test was used to compare ICARS between patients and controls. To evaluate inter-observer agreement in patients' ICARS ratings, intraclass correlation coefficients (ICC) were calculated. ICARS internal consistency was evaluated using Cronbach's alpha. Spearman's rank correlation coefficient test was used to correlate ICARS with NPCRS, midsagittal vermis relative diameter and IQ. ICARS and ICARS subscores differed between patients and controls (p < 0.001). Interobserver agreement of ICARS was "almost perfect" (ICC = 0.99), with a "good" internal reliability (Cronbach's alpha = 0.72). ICARS was significantly correlated with the total NPCRS score (rs 0.90, p < 0.001). However, there was no agreement regarding categories of severity. Regarding neuroimaging, inverse correlations between ICARS and midsagittal vermis relative diameter (rs -0.85, p = 0.003) and IQ (rs -0.94, p = 0.005) were found. Patients bearing p.E93A, p.C241S or p.R162W mutations presented a milder phenotype. ICARS is a reliable instrument for assessment of PMM2-CDG patients, without significant inter-rater variability. Despite our limited sample size, the results show a good correlation between functional cerebellar assessment, IQ and neuroimagingFor the first a correlation between ICARS, neuroimaging and IQ in PMM2-CDG patients has been demonstrated.

Twitter Demographics

The data shown below were collected from the profiles of 4 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 52 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 1 2%
Unknown 51 98%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 9 17%
Student > Ph. D. Student 7 13%
Researcher 5 10%
Student > Master 5 10%
Other 4 8%
Other 12 23%
Unknown 10 19%
Readers by discipline Count As %
Medicine and Dentistry 13 25%
Biochemistry, Genetics and Molecular Biology 4 8%
Neuroscience 4 8%
Nursing and Health Professions 3 6%
Agricultural and Biological Sciences 3 6%
Other 9 17%
Unknown 16 31%

Attention Score in Context

This research output has an Altmetric Attention Score of 6. 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 12 March 2018.
All research outputs
#2,805,017
of 12,633,553 outputs
Outputs from Orphanet Journal of Rare Diseases
#327
of 1,380 outputs
Outputs of similar age
#61,180
of 276,367 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#9
of 48 outputs
Altmetric has tracked 12,633,553 research outputs across all sources so far. Compared to these this one has done well and is in the 77th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,380 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.1. This one has done well, scoring higher than 75% 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 276,367 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 77% of its contemporaries.
We're also able to compare this research output to 48 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 81% of its contemporaries.