International consensus recommendations for the assessment and management of individuals with CDKL5 deficiency disorder

Amin, S. et al. (2022) International consensus recommendations for the assessment and management of individuals with CDKL5 deficiency disorder. Frontiers in Neurology, 13, 874695. (doi: 10.3389/fneur.2022.874695) (PMID:35795799) (PMCID:PMC9251467)

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.

• Item Type: Articles
• Additional Information: HO was supported by NINDS K23 NS107646-04, PI Olson. TB was supported by the Ponzio Family Chair in Neurology Research to the Children’s Hospital Colorado Foundation.
• Keywords: Neurology, CDKL5 deficiency disorder, cyclin-dependent kinase-like 5, developmental and epileptic encephalopathy, care guideline, consensus methods, Delphi methods.
• Status: Published
• Refereed: Yes
• Glasgow Author(s) Enlighten ID: Zuberi, Dr Sameer
• Authors: Amin, S., Monaghan, M., Aledo-Serrano, A., Bahi-Buisson, N., Chin, R. F., Clarke, A. J., Cross, J. H., Demarest, S., Devinsky, O., Downs, J., Pestana Knight, E. M., Olson, H., Partridge, C.-A., Stuart, G., Trivisano, M., Zuberi, S., and Benke, T. A.
• College/School: College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing
• Journal Name: Frontiers in Neurology
• Publisher: Frontiers Media
• ISSN: 1664-2295
• ISSN (Online): 1664-2295
• Copyright Holders: Copyright © 2022 Amin, Monaghan, Aledo-Serrano, Bahi-Buisson, Chin, Clarke, Cross, Demarest, Devinsky, Downs, Pestana Knight, Olson, Partridge, Stuart, Trivisano, Zuberi and Benke
• First Published: First published in Frontiers in Neurology 13: 874695
• Publisher Policy: Reproduced under a Creative Commons License