Longitudinal Relationship Between Seizure Burden and Developmental Progression and the Implications on Quality of Life in Children with CDKL5 Deficiency Disorder
Abstract number :
1.277
Submission category :
7. Anti-seizure Medications / 7B. Clinical Trials
Year :
2021
Submission ID :
1826528
Source :
www.aesnet.org
Presentation date :
12/4/2021 12:00:00 PM
Published date :
Nov 22, 2021, 06:54 AM
Authors :
Elia Pestana Knight, MD - Pediatric Epilepsy Section, Epilepsy Center, Cleveland Clinic, Neurological Institute, Cleveland, Ohio, U.S.A; Helen Leonard, MBChB MPH - Telethon Kids Institute, The University of Western Australia, Perth, WA, Australia; Mohammed Junaid - Telethon Kids Institute, The University of Western Australia, Perth, WA, Australia; Kingsley Wong - Telethon Kids Institute, The University of Western Australia, Perth, WA, Australia; Alex Aimetti, PhD - Marinus Pharmaceuticals; Jenny Downs, PhD - Telethon Kids Institute, The University of Western Australia, Perth, WA, Australia
Rationale: CDKL5 Deficiency Disorder (CDD) is a rare but increasingly recognized developmental and epileptic encephalopathy (DEE) characterized by early onset refractory seizures, developmental impairment, and deficits in gross motor, fine motor, language and socialization skills. Children with CDD are now being diagnosed at an increasingly younger age due to awareness of the clinical features and the availability of genetic testing. To date, little is known about the developmental trajectory and what factors, if any, may influence a child’s progression. Here we explore the relationship of seizure burden on downstream developmental outcomes in patients with CDD. We then evaluate changes in developmental milestones and the impact on patient quality of life (QOL).
Methods: The study included longitudinal data from the International CDKL5 Disorder Database (ICDD) on 143 children aged <
Anti-seizure Medications