International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder

Frontiers in Neurology

Jenny Downs¹  Elia M. Pestana Knight²  Heather Olson³  Carol-Anne Partridge⁴  Graham Stuart⁵  Marina Trivisano⁶  Sameer Zuberi⁸  Tim A. Benke⁹  Orrin Devinsky^1,10  Sam Amin^1,11  Marie Monaghan^1,11  Scott Demarest^1,12  J. Helen Cross^1,13  Angel Aledo-Serrano^1,14  Nadia Bahi-Buisson^1,15  Richard F. Chin^1,16  Angus J. Clarke^1,18 

[1] 0School of Physiotherapy and Exercise Science, Curtin University, Perth, WA, Australia;1Cleveland Clinic Epilepsy Center, Cleveland Clinic Learner College of Medicine, Cleveland, OH, United States;2Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, United States;3CDKL5 UK, Somerset, United Kingdom;4Bristol Heart Institute, Bristol Royal Hospital for Children, University of Bristol, Bristol, United Kingdom;5Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy;6Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, United Kingdom;7College of Medical, Veterinary and Life Sciences, University of Glasgow, United Kingdom;8Department of Pediatrics, Pharmacology, Neurology, and Otolaryngology, University of Colorado School of Medicine, Children's Hospital Colorado, Aurora, CO, United States;Department of Neurology, New York University, New York, NY, United States;Department of Paediatric Neurology, Bristol Royal Hospital for Children, Bristol, United Kingdom;Departments of Pediatrics and Neurology, University of Colorado School of Medicine, Children's Hospital Colorado, Aurora, CO, United States;Developmental Neurosciences, UCL NIHR BRC Great Ormond Street Institute of Child Health, London, United Kingdom;Epilepsy Program, Department of Neurology, Ruber Internacional Hospital, Madrid, Spain;Pediatric Neurology, Necker Enfants Malades, Université de Paris, Paris, France;Royal Hospital for Sick Children, University of Edinburgh, Edinburgh, United Kingdom;Telethon Kids Institute, The University of Western Australia, Perth, WA, Australia;University Hospital of Wales, Cardiff University, Cardiff, United Kingdom;

关键词: CDKL5 deficiency disorder;    cyclin-dependent kinase-like 5;    developmental and epileptic encephalopathy;    care guideline;    consensus methods;    Delphi methods;   

DOI  :  10.3389/fneur.2022.874695

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

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