Show simple item record

dc.contributor.authorMangatt, M.
dc.contributor.authorWong, K.
dc.contributor.authorAnderson, B.
dc.contributor.authorEpstein, A.
dc.contributor.authorHodgetts, S.
dc.contributor.authorLeonard, H.
dc.contributor.authorDowns, Jennepher
dc.date.accessioned2017-03-24T11:53:19Z
dc.date.available2017-03-24T11:53:19Z
dc.date.created2017-03-23T06:59:48Z
dc.date.issued2016
dc.identifier.citationMangatt, M. and Wong, K. and Anderson, B. and Epstein, A. and Hodgetts, S. and Leonard, H. and Downs, J. 2016. Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome. Orphanet Journal of Rare Diseases. 11: 39.
dc.identifier.urihttp://hdl.handle.net/20.500.11937/51464
dc.identifier.doi10.1186/s13023-016-0418-y
dc.description.abstract

Background: 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. Methods: 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. Results: 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. Conclusion: 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.

dc.publisherBioMed Central Ltd.
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.titlePrevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome
dc.typeJournal Article
dcterms.source.volume11
dcterms.source.number1
dcterms.source.startPage1
dcterms.source.endPage17
dcterms.source.issn1750-1172
dcterms.source.titleOrphanet Journal of Rare Diseases
curtin.departmentSchool of Physiotherapy and Exercise Science
curtin.accessStatusOpen access


Files in this item

Thumbnail

This item appears in the following Collection(s)

Show simple item record

http://creativecommons.org/licenses/by/4.0/
Except where otherwise noted, this item's license is described as http://creativecommons.org/licenses/by/4.0/