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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

  • Good Attention Score compared to outputs of the same age (66th percentile)
  • Good Attention Score compared to outputs of the same age and source (65th percentile)

Mentioned by

wikipedia
1 Wikipedia page

Citations

dimensions_citation
107 Dimensions

Readers on

mendeley
117 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.

Mendeley readers

The data shown below were compiled from readership statistics for 117 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 3 3%
United Kingdom 2 2%
Canada 2 2%
Belgium 1 <1%
Japan 1 <1%
Mexico 1 <1%
Unknown 107 91%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 24 21%
Student > Master 16 14%
Student > Bachelor 16 14%
Researcher 15 13%
Student > Doctoral Student 9 8%
Other 27 23%
Unknown 10 9%
Readers by discipline Count As %
Medicine and Dentistry 37 32%
Agricultural and Biological Sciences 30 26%
Biochemistry, Genetics and Molecular Biology 21 18%
Nursing and Health Professions 4 3%
Psychology 4 3%
Other 9 8%
Unknown 12 10%

Attention Score in Context

This research output has an Altmetric Attention Score of 3. 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 November 2012.
All research outputs
#3,603,582
of 12,439,665 outputs
Outputs from Orphanet Journal of Rare Diseases
#525
of 1,352 outputs
Outputs of similar age
#78,102
of 266,776 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#12
of 38 outputs
Altmetric has tracked 12,439,665 research outputs across all sources so far. This one is in the 49th percentile – i.e., 49% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,352 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.0. This one has gotten more attention than average, scoring higher than 56% 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 266,776 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 66% of its contemporaries.
We're also able to compare this research output to 38 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 65% of its contemporaries.