| Title |
Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2‐CDG)
|
|---|---|
| Published in |
Journal of Inherited Metabolic Disease, March 2017
|
| DOI | 10.1007/s10545-017-0028-4 |
| Pubmed ID | |
| Authors |
Víctor de Diego, Antonio F. Martínez‐Monseny, Jordi Muchart, Daniel Cuadras, Raquel Montero, Rafael Artuch, Celia Pérez‐Cerdá, Belén Pérez, Belén Pérez‐Dueñas, Andrea Poretti, Mercedes Serrano, Collaborators of the CDG Spanish‐Consortium |
| Abstract |
We aim to delineate the progression of cerebellar atrophy (the primary neuroimaging finding) in children with phosphomannomutase-deficiency (PMM2-CDG) by analyzing longitudinal MRI studies and performing cerebellar volumetric analysis and a 2D cerebellar measurement. Statistical analysis was used to compare MRI measurements [midsagittal vermis relative diameter (MVRD) and volume] of children with PMM2-CDG and sex- and age-matched controls, and to determine the rate of progression of cerebellar atrophy at different ages. Fifty MRI studies of 33 PMM2-CDG patients were used for 2D evaluation, and 19 MRI studies were available for volumetric analysis. Results from a linear regression model showed that patients have a significantly lower MVRD and cerebellar volume compared to controls (p < 0.001 and p < 0.001 respectively). There was a significant negative correlation between age and MVRD for patients (p = 0.014). The rate of cerebellar atrophy measured by the loss of MVRD and cerebellar volume per year was higher at early ages (r = -0.578, p = 0.012 and r = -0.323, p = 0.48 respectively), particularly in patients under 11 years (p = 0.004). There was a significant positive correlation between MVRD and cerebellar volume in PMM2-CDG patients (r = 0.669, p = 0.001). Our study quantifies a progression of cerebellar atrophy in PMM2-CDG patients, particularly during the first decade of life, and suggests a simple and reliable measure, the MVRD, to monitor cerebellar atrophy. Quantitative measurement of MVRD and cerebellar volume are essential for correlation with phenotype and outcome, natural follow-up, and monitoring in view of potential therapies in children with PMM2-CDG. |
X Demographics
The data shown below were collected from the profiles of 6 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Spain | 3 | 50% |
| Unknown | 3 | 50% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 4 | 67% |
| Practitioners (doctors, other healthcare professionals) | 2 | 33% |
Mendeley readers
The data shown below were compiled from readership statistics for 27 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Spain | 1 | 4% |
| Unknown | 26 | 96% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 8 | 30% |
| Other | 3 | 11% |
| Librarian | 3 | 11% |
| Professor > Associate Professor | 2 | 7% |
| Lecturer | 1 | 4% |
| Other | 4 | 15% |
| Unknown | 6 | 22% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 8 | 30% |
| Agricultural and Biological Sciences | 2 | 7% |
| Pharmacology, Toxicology and Pharmaceutical Science | 2 | 7% |
| Business, Management and Accounting | 1 | 4% |
| Biochemistry, Genetics and Molecular Biology | 1 | 4% |
| Other | 4 | 15% |
| Unknown | 9 | 33% |
Attention Score in Context
This research output has an Altmetric Attention Score of 4. 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 04 December 2017.
All research outputs
#7,221,937
of 22,994,508 outputs
Outputs from Journal of Inherited Metabolic Disease
#661
of 1,868 outputs
Outputs of similar age
#115,676
of 309,224 outputs
Outputs of similar age from Journal of Inherited Metabolic Disease
#5
of 21 outputs
Altmetric has tracked 22,994,508 research outputs across all sources so far. This one has received more attention than most of these and is in the 68th percentile.
So far Altmetric has tracked 1,868 research outputs from this source. They receive a mean Attention Score of 4.7. This one has gotten more attention than average, scoring higher than 64% 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 309,224 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 62% of its contemporaries.
We're also able to compare this research output to 21 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 76% of its contemporaries.