| Title |
Epidemiology of Sanfilippo syndrome: results of a systematic literature review
|
|---|---|
| Published in |
Orphanet Journal of Rare Diseases, April 2018
|
| DOI | 10.1186/s13023-018-0796-4 |
| Pubmed ID | |
| Authors |
Tamás Zelei, Kata Csetneki, Zoltán Vokó, Csaba Siffel |
| Abstract |
Sanfilippo syndrome (mucopolysaccharidosis [MPS] III subtypes A, B, C, and D) is a rare autosomal recessive inherited metabolic disorder that causes progressive neurocognitive degeneration. This systematic literature review was undertaken to compile and assess published epidemiological data, including various frequency measures and geographical variation on Sanfilippo syndrome. The following databases were systematically searched for terms related to Sanfilippo syndrome epidemiology: Medline, Embase, Cochrane Database of Systematic Reviews, Academic Search Complete, Cumulative Index to Nursing and Allied Health Literature, and the Centre for Reviews and Dissemination. Qualitative synthesis of research findings was performed. Of 2794 publications found in the initial search, 116 were deemed eligible after title and abstract screening. Following full-text review, 46 papers were included in the qualitative synthesis. Results of this systematic literature review indicate that lifetime risk at birth ranges from 0.17-2.35 per 100,000 live births for all 4 subtypes of MPS III together, and from 0.00-1.62 per 100,000 live births for the most frequent subtype, MPS IIIA. All 4 subtypes of MPS III are exceptionally rare, but they each have devastating effects on children. Higher-quality epidemiological data are needed to appropriately target resources for disease research and management. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 102 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 102 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 13 | 13% |
| Student > Ph. D. Student | 9 | 9% |
| Other | 9 | 9% |
| Researcher | 8 | 8% |
| Student > Bachelor | 7 | 7% |
| Other | 10 | 10% |
| Unknown | 46 | 45% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 14 | 14% |
| Biochemistry, Genetics and Molecular Biology | 10 | 10% |
| Nursing and Health Professions | 7 | 7% |
| Agricultural and Biological Sciences | 5 | 5% |
| Neuroscience | 4 | 4% |
| Other | 19 | 19% |
| Unknown | 43 | 42% |
Attention Score in Context
This research output has an Altmetric Attention Score of 20. 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 24 February 2023.
All research outputs
#1,835,494
of 25,271,884 outputs
Outputs from Orphanet Journal of Rare Diseases
#201
of 3,051 outputs
Outputs of similar age
#38,563
of 335,605 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#4
of 41 outputs
Altmetric has tracked 25,271,884 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 92nd percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 3,051 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 93% of its peers.
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We're also able to compare this research output to 41 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 92% of its contemporaries.