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TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients

Overview of attention for article published in Orphanet Journal of Rare Diseases, January 2017
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  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (85th percentile)
  • High Attention Score compared to outputs of the same age and source (84th percentile)

Mentioned by

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1 blog
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6 X users
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1 Facebook page

Citations

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169 Dimensions

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186 Mendeley
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Title
TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients
Published in
Orphanet Journal of Rare Diseases, January 2017
DOI 10.1186/s13023-016-0553-5
Pubmed ID
Authors

John C. Kingswood, Guillaume B. d’Augères, Elena Belousova, José C. Ferreira, Tom Carter, Ramon Castellana, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Petrus J. de Vries, Martha Feucht, Carla Fladrowski, Gabriella Gislimberti, Christoph Hertzberg, Sergiusz Jozwiak, John A. Lawson, Alfons Macaya, Rima Nabbout, Finbar O’Callaghan, Mirjana P. Benedik, Jiong Qin, Ruben Marques, Valentin Sander, Matthias Sauter, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, Anna C. Jansen, on behalf of TOSCA consortium and TOSCA investigators

Abstract

Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder. Many gaps remain in the understanding of TSC because of the complexity in clinical presentation. The TuberOus SClerosis registry to increase disease Awareness (TOSCA) is an international disease registry designed to address knowledge gaps in the natural history and management of TSC. Here, we present the baseline data of TOSCA cohort. Patients of any age diagnosed with TSC, having a documented visit for TSC within the preceding 12 months, or newly diagnosed individuals were included. The registry includes a "core" section designed to record detailed background information on each patient including disease manifestations, interventions, and outcomes collected at baseline and updated annually. "Subsections" of the registry recorded additional data related to specific features of TSC. Baseline "core" data from 2093 patients enrolled from 170 sites across 31 countries were available at the cut-off date September 30, 2014. Median age of patients at enrollment was 13 years (range, 0-71) and at diagnosis of TSC was 1 year (range, 0-69). The occurrence rates of major manifestations of TSC included - cortical tubers (82.2%), subependymal nodules (78.2%), subependymal giant cell astrocytomas (24.4%), renal angiomyolipomas (47.2%), lymphangioleiomyomatosis (6.9%), cardiac rhabdomyomas (34.3%), facial angiofibromas (57.3%), forehead plaque (14.1%), ≥ 3 hypomelanotic macules (66.8%), and shagreen patches (27.4%). Epilepsy was reported in 1748 (83.5%) patients, of which 1372 were diagnosed at ≤ 2 years (78%). Intellectual disability was identified in 451 (54.9%) patients of those assessed. TSC-associated neuropsychiatric disorders (TAND) were diagnosed late, and not evaluated in 30-50% of patients. TOSCA is the largest clinical case series of TSC to date. It provided a detailed description of the disease trajectory with increased awareness of various TSC manifestations. The rates of different features of TSC reported here reflect the age range and referral patterns of clinics contributing patients to the cohort. Documentation of TAND and LAM was poor. A widespread adoption of the international TSC assessment and treatment guidelines, including use of the TAND Checklist, could improve surveillance. The registry provides valuable insights into the necessity for monitoring, timing, and indications for the treatment of TSC.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 186 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Spain 1 <1%
Unknown 185 99%

Demographic breakdown

Readers by professional status Count As %
Researcher 28 15%
Student > Bachelor 23 12%
Student > Postgraduate 16 9%
Other 15 8%
Student > Doctoral Student 15 8%
Other 34 18%
Unknown 55 30%
Readers by discipline Count As %
Medicine and Dentistry 55 30%
Neuroscience 21 11%
Biochemistry, Genetics and Molecular Biology 15 8%
Nursing and Health Professions 7 4%
Psychology 6 3%
Other 17 9%
Unknown 65 35%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 11. 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 05 August 2022.
All research outputs
#3,123,651
of 24,219,576 outputs
Outputs from Orphanet Journal of Rare Diseases
#446
of 2,852 outputs
Outputs of similar age
#62,122
of 428,942 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#9
of 52 outputs
Altmetric has tracked 24,219,576 research outputs across all sources so far. Compared to these this one has done well and is in the 87th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,852 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.9. This one has done well, scoring higher than 84% 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 428,942 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 85% of its contemporaries.
We're also able to compare this research output to 52 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 84% of its contemporaries.