International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder
Year: 2022
Type: article
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.
Source: Frontiers in Neurology
Institutions: Bristol Royal Hospital for Children, Hospital Ruber Internacional, Hôpital Necker-Enfants Malades, Université Paris Cité, Royal Hospital for Sick Children, University of Edinburgh, University Hospital of Wales, Cardiff University, University College London, Children's Hospital Colorado, University of Colorado Anschutz, New York University, The Kids Research Institute Australia, The University of Western Australia, Curtin University, Cleveland Clinic, Cleveland Clinic Lerner College of Medicine, Boston Children's Hospital, University of Bristol, Bambino Gesù Children's Hospital, Istituti di Ricovero e Cura a Carattere Scientifico, Royal Hospital for Children, University of Glasgow
Language: English
Subfield: Psychiatry and Mental health
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $2,950
OpenAlex ID: W4283216555