Amin, Sam;
Monaghan, Marie;
Aledo-Serrano, Angel;
Bahi-Buisson, Nadia;
Chin, Richard F;
Clarke, Angus J;
Cross, J Helen;
... Benke, Tim A; + view all
(2022)
International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder.
Frontiers in Neurology
, 13
, Article 874695. 10.3389/fneur.2022.874695.
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Abstract
CDKL5 Deficiency Disorder (CDD) is a rare, X-linked dominant condition that causes a developmental and epileptic encephalopathy (DEE). The incidence is between ~ 1:40,000 and 1:60,000 live births. Pathogenic variants in CDKL5 lead to seizures from infancy and severe neurodevelopmental delay. During infancy and childhood, individuals with CDD suffer impairments affecting cognitive, motor, visual, sleep, gastrointestinal and other functions. Here we present the recommendations of international healthcare professionals, experienced in CDD management, to address the multisystem and holistic needs of these individuals. Using a Delphi method, an anonymous survey was administered electronically to an international and multidisciplinary panel of expert clinicians and researchers. To provide summary recommendations, consensus was set, a priori, as >70% agreement for responses. In the absence of large, population-based studies to provide definitive evidence for treatment, we propose recommendations for clinical management, influenced by this proposed threshold for consensus. We believe these recommendations will help standardize, guide and improve the medical care received by individuals with CDD.
| Type: | Article |
|---|---|
| Title: | International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder |
| Location: | Switzerland |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.3389/fneur.2022.874695 |
| Publisher version: | https://doi.org/10.3389/fneur.2022.874695 |
| Language: | English |
| Additional information: | © 2022 Amin, Monaghan, Aledo-Serrano, Bahi-Buisson, Chin, Clarke, Cross, Demarest, Devinsky, Downs, Pestana Knight, Olson, Partridge, Stuart, Trivisano, Zuberi and Benke. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
| Keywords: | CDKL5 deficiency disorder, cyclin-dependent kinase-like 5, developmental and epileptic encephalopathy, care guideline, consensus methods, Delphi methods |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Neurosciences Dept UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10153308 |
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