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Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force

Overview of attention for article published in Orphanet Journal of Rare Diseases, April 2017
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  • Good Attention Score compared to outputs of the same age (67th percentile)
  • Average Attention Score compared to outputs of the same age and source

Mentioned by

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6 tweeters
facebook
3 Facebook pages

Citations

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11 Dimensions

Readers on

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84 Mendeley
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Title
Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force
Published in
Orphanet Journal of Rare Diseases, April 2017
DOI 10.1186/s13023-017-0606-4
Pubmed ID
Authors

Berardo Rinaldi, Alessandro Vaisfeld, Sergio Amarri, Chiara Baldo, Giuseppe Gobbi, Pamela Magini, Erto Melli, Giovanni Neri, Francesca Novara, Tommaso Pippucci, Romana Rizzi, Annarosa Soresina, Laura Zampini, Orsetta Zuffardi, Marco Crimi

Abstract

Ring chromosome 14 syndrome is a rare chromosomal disorder characterized by early onset refractory epilepsy, intellectual disability, autism spectrum disorder and a number of diverse health issues. The aim of this work is to provide recommendations for the diagnosis and management of persons affected by ring chromosome 14 syndrome based on evidence from literature and experience of health professionals from different medical backgrounds who have followed for several years subjects affected by ring chromosome 14 syndrome. The literature search was performed in 2016. Original papers, meta-analyses, reviews, books and guidelines were reviewed and final recommendations were reached by consensus. Conventional cytogenetics is the primary tool to identify a ring chromosome. Children with a terminal deletion of chromosome 14q ascertained by molecular karyotyping (CGH/SNP array) should be tested secondarily by conventional cytogenetics for the presence of a ring chromosome. Early diagnosis should be pursued in order to provide medical and social assistance by a multidisciplinary team. Clinical investigations, including neurophysiology for epilepsy, should be performed at the diagnosis and within the follow-up. Following the diagnosis, patients and relatives/caregivers should receive regular care for health and social issues. Epilepsy should be treated from the onset with anticonvulsive therapy. Likewise, feeding difficulties should be treated according to need. Nutritional assessment is recommended for all patients and nutritional support for malnourishment can include gastrostomy feeding in selected cases. Presence of autistic traits should be carefully evaluated. Many patients with ring chromosome 14 syndrome are nonverbal and thus maintaining their ability to communicate is always essential; every effort should be made to preserve their autonomy.

Twitter Demographics

The data shown below were collected from the profiles of 6 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 84 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 84 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 17 20%
Student > Master 12 14%
Researcher 10 12%
Other 7 8%
Student > Ph. D. Student 7 8%
Other 14 17%
Unknown 17 20%
Readers by discipline Count As %
Medicine and Dentistry 21 25%
Nursing and Health Professions 12 14%
Psychology 10 12%
Biochemistry, Genetics and Molecular Biology 6 7%
Neuroscience 6 7%
Other 8 10%
Unknown 21 25%

Attention Score in Context

This research output has an Altmetric Attention Score of 5. 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 23 April 2021.
All research outputs
#5,130,708
of 18,336,925 outputs
Outputs from Orphanet Journal of Rare Diseases
#649
of 1,972 outputs
Outputs of similar age
#90,280
of 275,471 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#8
of 12 outputs
Altmetric has tracked 18,336,925 research outputs across all sources so far. This one has received more attention than most of these and is in the 71st percentile.
So far Altmetric has tracked 1,972 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.5. This one has gotten more attention than average, scoring higher than 65% 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 275,471 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 67% of its contemporaries.
We're also able to compare this research output to 12 others from the same source and published within six weeks on either side of this one. This one is in the 41st percentile – i.e., 41% of its contemporaries scored the same or lower than it.