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Autism spectrum disorder in tuberous sclerosis complex: searching for risk markers

Overview of attention for article published in Orphanet Journal of Rare Diseases, December 2015
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • Good Attention Score compared to outputs of the same age (78th percentile)
  • Good Attention Score compared to outputs of the same age and source (73rd percentile)

Mentioned by

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9 tweeters
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1 research highlight platform

Citations

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52 Dimensions

Readers on

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121 Mendeley
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Title
Autism spectrum disorder in tuberous sclerosis complex: searching for risk markers
Published in
Orphanet Journal of Rare Diseases, December 2015
DOI 10.1186/s13023-015-0371-1
Pubmed ID
Authors

Aglaia Vignoli, Francesca La Briola, Angela Peron, Katherine Turner, Chiara Vannicola, Monica Saccani, Elisabetta Magnaghi, Giulia Federica Scornavacca, Maria Paola Canevini

Abstract

Neuropsychiatric disorders are present in up to 90 % of patients with Tuberous Sclerosis Complex (TSC), and represent an important issue for families. Autism Spectrum Disorder (ASD) is the most common neurobehavioral disease, affecting up to 61 % of patients. The aims of this study were: 1) to assess the prevalence of ASD in a TSC population; 2) to describe the severity of ASD; 3) to identify potential risk factors associated with the development of ASD in TSC patients. We selected 42 individuals over age 4 years with a definite diagnosis of TSC and followed at a TSC clinic in Northern Italy. We collected and reported clinical and genetic data, as well as cognitive level, for each of them. We administered the Social Communication Questionnaire (SCQ) as a reliable screening tool for ASD, and performed comparisons between the average scores and each clinical and genetic feature. Seventeen out of 42 patients (40.5 %) had a score at the SCQ suggestive of ASD (≥15 points). When calculated for each cognitive level category, the average SCQ score tended to be progressively higher in patients with a worse cognitive level, and the number of pathological SCQ scores increased with worsening of intellectual disability. With respect to ASD severity, the scores were equally distributed, indicating that the degree of ASD in TSC patients may have a large variability. By comparing the average SCQ scores with the clinical features, we found statistically significant correlations with epilepsy, seizure onset before age one year, spasms, mutations in TSC2, cognitive level, sleep disorders, and other psychiatric problems, but not with seizure frequency, tubers localization and gender. Our study showed a prevalence of ASD of 40.5 %, confirming the higher risk for this disorder in patients with TSC. However, the severity seems to have a notable variability in TSC patients. Risk factors for ASD are epilepsy, infantile spams, and mutations in TSC2.

Twitter Demographics

The data shown below were collected from the profiles of 9 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 121 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 1 <1%
Ethiopia 1 <1%
Unknown 119 98%

Demographic breakdown

Readers by professional status Count As %
Student > Master 19 16%
Student > Bachelor 18 15%
Researcher 17 14%
Student > Ph. D. Student 12 10%
Other 11 9%
Other 26 21%
Unknown 18 15%
Readers by discipline Count As %
Medicine and Dentistry 33 27%
Psychology 18 15%
Neuroscience 16 13%
Biochemistry, Genetics and Molecular Biology 9 7%
Agricultural and Biological Sciences 7 6%
Other 14 12%
Unknown 24 20%

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 09 October 2019.
All research outputs
#3,698,169
of 15,999,693 outputs
Outputs from Orphanet Journal of Rare Diseases
#404
of 1,707 outputs
Outputs of similar age
#78,671
of 368,612 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#33
of 126 outputs
Altmetric has tracked 15,999,693 research outputs across all sources so far. Compared to these this one has done well and is in the 76th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,707 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.4. This one has done well, scoring higher than 76% 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 368,612 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 78% of its contemporaries.
We're also able to compare this research output to 126 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 73% of its contemporaries.