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Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome

Overview of attention for article published in Orphanet Journal of Rare Diseases, April 2016
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  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (84th percentile)
  • High Attention Score compared to outputs of the same age and source (85th percentile)

Mentioned by

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9 tweeters
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3 Facebook pages
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1 Wikipedia page

Citations

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31 Dimensions

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64 Mendeley
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Title
Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome
Published in
Orphanet Journal of Rare Diseases, April 2016
DOI 10.1186/s13023-016-0418-y
Pubmed ID
Authors

Meghana Mangatt, Kingsley Wong, Barbara Anderson, Amy Epstein, Stuart Hodgetts, Helen Leonard, Jenny Downs

Abstract

Initially described as an early onset seizure variant of Rett syndrome, the CDKL5 disorder is now considered as an independent entity. However, little is currently known about the full spectrum of comorbidities that affect these patients and available literature is limited to small case series. This study aimed to use a large international sample to examine the prevalence in this disorder of comorbidities of epilepsy, gastrointestinal problems including feeding difficulties, sleep and respiratory problems and scoliosis and their relationships with age and genotype. Prevalence and onset were also compared with those occurring in Rett syndrome. Data for the CDKL5 disorder and Rett syndrome were sourced from the International CDKL5 Disorder Database (ICDD), InterRett and the Australian Rett syndrome Database (ARSD). Logistic regression (multivariate and univariate) was used to analyse the relationships between age group, mutation type and the prevalence of various comorbidities. Binary longitudinal data from the ARSD and the equivalent cross-sectional data from ICDD were examined using generalized linear models with generalized estimating equations. The Kaplan-Meier method was used to estimate the failure function for the two disorders and the log-rank test was used to compare the two functions. The likelihood of experiencing epilepsy, GI problems, respiratory problems, and scoliosis in the CDKL5 disorder increased with age and males were more vulnerable to respiratory and sleep problems than females. We did not identify any statistically significant relationships between mutation group and prevalence of comorbidities. Epilepsy, GI problems and sleep abnormalities were more common in the CDKL5 disorder than in Rett syndrome whilst scoliosis and respiratory problems were less prevalent. This study captured a much clearer picture of the CDKL5 disorder than previously possible using the largest sample available to date. There were differences in the presentation of clinical features occurring in the CDKL5 disorder and in Rett syndrome, reinforcing the concept that CDKL5 is an independent disorder with its own distinctive characteristics.

Twitter Demographics

The data shown below were collected from the profiles of 9 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 64 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 64 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 11 17%
Student > Bachelor 10 16%
Student > Master 10 16%
Student > Ph. D. Student 8 13%
Other 6 9%
Other 12 19%
Unknown 7 11%
Readers by discipline Count As %
Neuroscience 15 23%
Agricultural and Biological Sciences 8 13%
Medicine and Dentistry 7 11%
Nursing and Health Professions 7 11%
Biochemistry, Genetics and Molecular Biology 6 9%
Other 13 20%
Unknown 8 13%

Attention Score in Context

This research output has an Altmetric Attention Score of 10. 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 13 June 2016.
All research outputs
#819,438
of 7,890,722 outputs
Outputs from Orphanet Journal of Rare Diseases
#101
of 1,096 outputs
Outputs of similar age
#42,667
of 272,617 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#8
of 55 outputs
Altmetric has tracked 7,890,722 research outputs across all sources so far. Compared to these this one has done well and is in the 89th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,096 research outputs from this source. They receive a mean Attention Score of 4.8. This one has done particularly well, scoring higher than 90% 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 272,617 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 84% of its contemporaries.
We're also able to compare this research output to 55 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 85% of its contemporaries.