The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy
The clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual centres. This study uses a large international data collection to describe the clinical profile of the CDKL5 disorder and compare with Rett syndrome (RTT...
| Main Authors: | , , , , , , , , , , , , , |
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| Format: | Journal Article |
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Nature Publishing Group
2012
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| Online Access: | http://hdl.handle.net/20.500.11937/11790 |
| _version_ | 1848747899981135872 |
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| author | Fehr, Stephanie Wilson, Meredith Downs, Jennepher Williams, Simon Murgia, Alessandra Sartori, Stefano Vecchi, Marilena Ho, Gladys Polli, Roberta Psoni, Stavroula Bao, Xinhua de Klerk, Nick Leonard, Helen Christodoulou, John |
| author_facet | Fehr, Stephanie Wilson, Meredith Downs, Jennepher Williams, Simon Murgia, Alessandra Sartori, Stefano Vecchi, Marilena Ho, Gladys Polli, Roberta Psoni, Stavroula Bao, Xinhua de Klerk, Nick Leonard, Helen Christodoulou, John |
| author_sort | Fehr, Stephanie |
| building | Curtin Institutional Repository |
| collection | Online Access |
| description | The clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual centres. This study uses a large international data collection to describe the clinical profile of the CDKL5 disorder and compare with Rett syndrome (RTT). Information on individuals with cyclin-dependent kinase-like 5 (CDKL5) mutations (n=86) and females with MECP2 mutations (n=920) was sourced from the InterRett database. Available photographs of CDKL5 patients were examined for dysmorphic features. The proportion of CDKL5 patients meeting the recent Neul criteria for atypical RTT was determined. Logistic regression and time-to-event analyses were used to compare the occurrence of Rett-like features in those with MECP2 and CDKL5 mutations. Most individuals with CDKL5 mutations had severe developmental delay from birth, seizure onset before the age of 3 months and similar non-dysmorphic features. Less than one-quarter met the criteria for early-onset seizure variant RTT. Seizures and sleep disturbances were more common than in those with MECP2 mutations whereas features of regression and spinal curvature were less common. The CDKL5 disorder presents with a distinct clinical profile and a subtle facial, limb and hand phenotype that may assist in differentiation from other early-onset encephalopathies. Although mutations in the CDKL5 gene have been described in association with the early-onset variant of RTT, in our study the majority did not meet these criteria. Therefore, the CDKL5 disorder should be considered separate to RTT, rather than another variant. |
| first_indexed | 2025-11-14T06:56:29Z |
| format | Journal Article |
| id | curtin-20.500.11937-11790 |
| institution | Curtin University Malaysia |
| institution_category | Local University |
| last_indexed | 2025-11-14T06:56:29Z |
| publishDate | 2012 |
| publisher | Nature Publishing Group |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | curtin-20.500.11937-117902018-05-28T05:41:17Z The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy Fehr, Stephanie Wilson, Meredith Downs, Jennepher Williams, Simon Murgia, Alessandra Sartori, Stefano Vecchi, Marilena Ho, Gladys Polli, Roberta Psoni, Stavroula Bao, Xinhua de Klerk, Nick Leonard, Helen Christodoulou, John The clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual centres. This study uses a large international data collection to describe the clinical profile of the CDKL5 disorder and compare with Rett syndrome (RTT). Information on individuals with cyclin-dependent kinase-like 5 (CDKL5) mutations (n=86) and females with MECP2 mutations (n=920) was sourced from the InterRett database. Available photographs of CDKL5 patients were examined for dysmorphic features. The proportion of CDKL5 patients meeting the recent Neul criteria for atypical RTT was determined. Logistic regression and time-to-event analyses were used to compare the occurrence of Rett-like features in those with MECP2 and CDKL5 mutations. Most individuals with CDKL5 mutations had severe developmental delay from birth, seizure onset before the age of 3 months and similar non-dysmorphic features. Less than one-quarter met the criteria for early-onset seizure variant RTT. Seizures and sleep disturbances were more common than in those with MECP2 mutations whereas features of regression and spinal curvature were less common. The CDKL5 disorder presents with a distinct clinical profile and a subtle facial, limb and hand phenotype that may assist in differentiation from other early-onset encephalopathies. Although mutations in the CDKL5 gene have been described in association with the early-onset variant of RTT, in our study the majority did not meet these criteria. Therefore, the CDKL5 disorder should be considered separate to RTT, rather than another variant. 2012 Journal Article http://hdl.handle.net/20.500.11937/11790 10.1038/ejhg.2012.156 Nature Publishing Group fulltext |
| spellingShingle | Fehr, Stephanie Wilson, Meredith Downs, Jennepher Williams, Simon Murgia, Alessandra Sartori, Stefano Vecchi, Marilena Ho, Gladys Polli, Roberta Psoni, Stavroula Bao, Xinhua de Klerk, Nick Leonard, Helen Christodoulou, John The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy |
| title | The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy |
| title_full | The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy |
| title_fullStr | The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy |
| title_full_unstemmed | The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy |
| title_short | The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy |
| title_sort | cdkl5 disorder is an independent clinical entity associated with early-onset encephalopathy |
| url | http://hdl.handle.net/20.500.11937/11790 |