| Title |
Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation
|
|---|---|
| Published in |
Genetics in Medicine, June 2016
|
| DOI | 10.1038/gim.2016.68 |
| Pubmed ID | |
| Authors |
Alex R. Kemper, Jeffrey Brosco, Anne Marie Comeau, Nancy S. Green, Scott D. Grosse, Elizabeth Jones, Jennifer M. Kwon, Wendy K.K. Lam, Jelili Ojodu, Lisa A. Prosser, Susan Tanksley |
| Abstract |
The secretary of the US Department of Health and Human Services in February 2016 recommended that X-linked adrenoleukodystrophy (X-ALD) be added to the recommended uniform screening panel for state newborn screening programs. This decision was informed by data presented on the accuracy of screening from New York, the only state that currently offers X-ALD newborn screening, and published and unpublished data showing health benefits of earlier treatment (hematopoietic stem cell transplantation and adrenal hormone replacement therapy) for the childhood cerebral form of X-ALD. X-ALD newborn screening also identifies individuals with later-onset disease, but poor genotype-phenotype correlation makes predicting health outcomes difficult and might increase the risk of unnecessary treatment. Few data are available regarding the harms of screening and presymptomatic identification. Significant challenges exist for implementing comprehensive X-ALD newborn screening, including incorporation of the test, coordinating follow-up diagnostic and treatment care, and coordination of extended family testing after case identification.Genet Med advance online publication 23 June 2016Genetics in Medicine (2016); doi:10.1038/gim.2016.68. |
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 % |
|---|---|---|
| Australia | 1 | 17% |
| United States | 1 | 17% |
| United Kingdom | 1 | 17% |
| Canada | 1 | 17% |
| Unknown | 2 | 33% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 5 | 83% |
| Science communicators (journalists, bloggers, editors) | 1 | 17% |
Mendeley readers
The data shown below were compiled from readership statistics for 93 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 1% |
| Argentina | 1 | 1% |
| Unknown | 91 | 98% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Other | 12 | 13% |
| Student > Bachelor | 11 | 12% |
| Student > Ph. D. Student | 9 | 10% |
| Student > Master | 8 | 9% |
| Researcher | 7 | 8% |
| Other | 13 | 14% |
| Unknown | 33 | 35% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 24 | 26% |
| Biochemistry, Genetics and Molecular Biology | 10 | 11% |
| Nursing and Health Professions | 6 | 6% |
| Neuroscience | 4 | 4% |
| Agricultural and Biological Sciences | 2 | 2% |
| Other | 11 | 12% |
| Unknown | 36 | 39% |
Attention Score in Context
This research output has an Altmetric Attention Score of 12. 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 10 January 2023.
All research outputs
#3,061,555
of 25,373,627 outputs
Outputs from Genetics in Medicine
#1,047
of 2,943 outputs
Outputs of similar age
#52,644
of 368,659 outputs
Outputs of similar age from Genetics in Medicine
#22
of 43 outputs
Altmetric has tracked 25,373,627 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 2,943 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 19.0. This one has gotten more attention than average, scoring higher than 64% of its peers.
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We're also able to compare this research output to 43 others from the same source and published within six weeks on either side of this one. This one is in the 48th percentile – i.e., 48% of its contemporaries scored the same or lower than it.