期刊
FRONTIERS IN NEUROLOGY
卷 13, 期 -, 页码 -出版社
FRONTIERS MEDIA SA
DOI: 10.3389/fneur.2022.874695
关键词
CDKL5 deficiency disorder; cyclin-dependent kinase-like 5; developmental and epileptic encephalopathy; care guideline; consensus methods; Delphi methods
资金
- NINDS [K23 NS107646-04]
- Ponzio Family Chair in Neurology Research
This article presents the characteristics, incidence, and impact of CDKL5 Deficiency Disorder (CDD), as well as recommendations from international healthcare professionals to address the diverse needs of individuals with CDD. Using a Delphi method, a consensus was reached and clinical management recommendations were proposed. These recommendations aim to standardize and improve the medical care for individuals with CDD.
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.
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