Amin Sam, Monaghan Marie, Aledo-Serrano Angel, Bahi-Buisson Nadia, Chin Richard F, Clarke Angus J, Cross J Helen, Demarest Scott, Devinsky Orrin, Downs Jenny, Pestana Knight Elia M, Olson Heather, Partridge Carol-Anne, Stuart Graham, Trivisano Marina, Zuberi Sameer, Benke Tim A
Department of Paediatric Neurology, Bristol Royal Hospital for Children, Bristol, United Kingdom.
Epilepsy Program, Department of Neurology, Ruber Internacional Hospital, Madrid, Spain.
Front Neurol. 2022 Jun 20;13:874695. doi: 10.3389/fneur.2022.874695. eCollection 2022.
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 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, , 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.
CDKL5缺乏症（CDD）是一种罕见的X连锁显性疾病，可导致发育性癫痫性脑病（DEE）。发病率约为每40000至60000例活产中有1例。致病变异会导致婴儿期癫痫发作和严重的神经发育迟缓。在婴儿期和儿童期，患有CDD的个体在认知、运动、视觉、睡眠、胃肠道及其他功能方面存在障碍。在此，我们展示了在CDD管理方面经验丰富的国际医疗专业人员的建议，以满足这些个体的多系统和整体需求。采用德尔菲法，通过电子方式对国际多学科专家临床医生和研究人员小组进行了匿名调查。为了提供总结性建议，设定了共识标准，即对于回复的同意率>70%。由于缺乏大规模的基于人群的研究来为治疗提供确凿证据，我们根据这一共识提议阈值，提出临床管理建议。我们相信这些建议将有助于规范、指导和改善CDD患者所接受的医疗护理。
