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Alpha thalassaemia-mental retardation, X linked

Overview of attention for article published in Orphanet Journal of Rare Diseases, May 2006
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (97th percentile)
  • High Attention Score compared to outputs of the same age and source (82nd percentile)

Mentioned by

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34 X users
wikipedia
4 Wikipedia pages

Citations

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131 Dimensions

Readers on

mendeley
140 Mendeley
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Title
Alpha thalassaemia-mental retardation, X linked
Published in
Orphanet Journal of Rare Diseases, May 2006
DOI 10.1186/1750-1172-1-15
Pubmed ID
Authors

Richard Gibbons

Abstract

X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal. So far, 168 patients have been reported. Language is usually very limited. Seizures occur in about one third of the cases. While many patients are affectionate with their caregivers, some exhibit autistic-like behaviour. Patients present with facial hypotonia and a characteristic mouth. Genital abnormalities are observed in 80% of children and range from undescended testes to ambiguous genitalia. Alpha-thalassaemia is not always present. This syndrome is X-linked recessive and results from mutations in the ATRX gene. This gene encodes the widely expressed ATRX protein. ATRX mutations cause diverse changes in the pattern of DNA methylation at heterochromatic loci but it is not yet known whether this is responsible for the clinical phenotype. The diagnosis can be established by detection of alpha thalassaemia, identification of ATRX gene mutations, ATRX protein studies and X-inactivation studies. Genetic counselling can be offered to families. Management is multidisciplinary: young children must be carefully monitored for gastro-oesophageal reflux as it may cause death. A number of individuals with ATR-X are fit and well in their 30s and 40s.

X Demographics

X Demographics

The data shown below were collected from the profiles of 34 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 140 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 3 2%
United Kingdom 2 1%
Canada 2 1%
Mexico 1 <1%
Japan 1 <1%
Belgium 1 <1%
Unknown 130 93%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 26 19%
Researcher 17 12%
Student > Bachelor 17 12%
Student > Master 16 11%
Student > Postgraduate 9 6%
Other 28 20%
Unknown 27 19%
Readers by discipline Count As %
Medicine and Dentistry 36 26%
Agricultural and Biological Sciences 30 21%
Biochemistry, Genetics and Molecular Biology 26 19%
Nursing and Health Professions 5 4%
Psychology 3 2%
Other 12 9%
Unknown 28 20%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 26. 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 25 January 2022.
All research outputs
#1,468,030
of 25,516,314 outputs
Outputs from Orphanet Journal of Rare Diseases
#161
of 3,141 outputs
Outputs of similar age
#2,511
of 83,980 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#4
of 17 outputs
Altmetric has tracked 25,516,314 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 94th percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 3,141 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.2. This one has done particularly well, scoring higher than 94% 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 83,980 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 97% of its contemporaries.
We're also able to compare this research output to 17 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 82% of its contemporaries.