TY - JOUR
T1 - International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder
AU - Amin, Sam
AU - Monaghan, Marie
AU - Aledo-Serrano, Angel
AU - Bahi-Buisson, Nadia
AU - Chin, Richard F.
AU - Clarke, Angus J.
AU - Cross, J. Helen
AU - Demarest, Scott
AU - Devinsky, Orrin
AU - Downs, Jenny
AU - Pestana Knight, Elia M.
AU - Olson, Heather
AU - Partridge, Carol Anne
AU - Stuart, Graham
AU - Trivisano, Marina
AU - Zuberi, Sameer
AU - Benke, Tim A.
PY - 2022/6/20
Y1 - 2022/6/20
N2 - 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.
AB - 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.
KW - care guideline
KW - CDKL5 deficiency disorder
KW - consensus methods
KW - cyclin-dependent kinase-like 5
KW - Delphi methods
KW - developmental and epileptic encephalopathy
UR - http://www.scopus.com/inward/record.url?scp=85133714137&partnerID=8YFLogxK
U2 - 10.3389/fneur.2022.874695
DO - 10.3389/fneur.2022.874695
M3 - Article
C2 - 35795799
AN - SCOPUS:85133714137
SN - 1664-2295
VL - 13
JO - Frontiers in Neurology
JF - Frontiers in Neurology
M1 - 874695
ER -