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dc.contributor.authorTropea, Danielaen
dc.contributor.authorReilly, Richarden
dc.contributor.authorDyer, Adamen
dc.date.accessioned2019-08-21T10:24:37Z
dc.date.available2019-08-21T10:24:37Z
dc.date.issued2018en
dc.date.submitted2018en
dc.identifier.citation1. C. Keogh, G. Pini, A. H. Dyer, S. Bigoni, P. DiMarco, I. Gemo,, R. Reilly, D. Tropea, Clinical and Genetic Rett Syndrome Variants are Defined by Stable Electrophysiological Profiles, BMC Pediatrics, 18, 1, 2018, 333 - 348en
dc.identifier.otherYen
dc.identifier.urihttp://hdl.handle.net/2262/89261
dc.descriptionPUBLISHEDen
dc.description.abstractBackground: Rett Syndrome (RTT) is a complex neuro developmental disorder, frequently associated with epilepsy. Despite increasing recognition of the clinical heterogeneity of RTT and its variants (e.g Classical, Hanefeld and PSV (Preserved Speech Variant)), the link between causative mutations and observed clinical phenotypes remains unclear. Quantitative analysis of electroencephalogram (EEG) recordings may further elucidate important differences between the different clinical and genetic forms of RTT. Methods: Using a large cohort (n= 42) of RTT patients, we analysed the electrophysiological profiles of RTT variants(genetic and clinical) in addition to epilepsy status (no epilepsy/treatment-responsive epilepsy/treatment-resistant epilepsy). The distribution of spectral power and inter-electrode coherence measures were derived from continuous resting-state EEG recordings. Results: RTT genetic variants (MeCP2/CDLK5) were characterised by significant differences in network architecture on comparing first principal components of inter-electrode coherence across all frequency bands (p< 0.0001). Greater coherence in occipital and temporal pairs were seen in MeCP2vsCDLK5variants, the main drivers in between group differences. Similarly, clinical phenotypes (Classical RTT/Hanefeld/PSV) demonstrated significant differences in network architecture (p< 0.0001). Right tempero-parietal connectivity was found to differ between groups (p=0.04), with greatest coherence in the Classical RTT phenotype. PSV demonstrated a significant difference in left-sided parieto-occipital coherence (p= 0.026). Whilst overall power decreased over time, there were no difference in asymmetry andinter-electrode coherence profiles over time. There was a significant difference in asymmetry in the overall power spectra between epilepsy groups (p= 0.04) in addition to occipital asymmetry across all frequency bands. Significant differences in network architecture were also seen across epilepsy groups (p=0.044). Conclusions: Genetic and clinical variants of RTT are characterised by discrete patterns of inter-electrode coherence and network architecture which remain stable over time. Further, hemispheric distribution of spectral power and measures of network dysfunction are associated with epilepsy status and treatment responsiveness. These findings support the role of discrete EEG profiles as non-invasive biomarkers in RTT and its genetic/clinical variants.en
dc.format.extent333en
dc.format.extent348en
dc.language.isoenen
dc.relation.ispartofseriesBMC Pediatricsen
dc.relation.ispartofseries18en
dc.relation.ispartofseries1en
dc.rightsYen
dc.subjectRett syndromeen
dc.subjectMeCP2en
dc.subjectCDKL5en
dc.subjectEEGen
dc.subjectNetworken
dc.titleClinical and Genetic Rett Syndrome Variants are Defined by Stable Electrophysiological Profilesen
dc.typeJournal Articleen
dc.type.supercollectionscholarly_publicationsen
dc.type.supercollectionrefereed_publicationsen
dc.identifier.peoplefinderurlhttp://people.tcd.ie/tropeaden
dc.identifier.peoplefinderurlhttp://people.tcd.ie/reillyrien
dc.identifier.peoplefinderurlhttp://people.tcd.ie/dyeraden
dc.identifier.rssinternalid196332en
dc.identifier.doihttps://doi.org/10.1186/s12887-018-1304-7en
dc.rights.ecaccessrightsopenAccess
dc.subject.TCDThemeNeuroscienceen
dc.identifier.orcid_id0000-0001-9730-6636en
dc.status.accessibleNen


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