J Neurodev Disord 2021 Sep 16;13(1):40. Epub 2021 Sep 16.
Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, 300 Longwood Avenue, Mailstop 3063, Boston, MA, 02115, USA.
Background: CDKL5 deficiency disorder (CDD) is associated with refractory infantile onset epilepsy, global developmental delay, and variable features that include sleep, behavioral disturbances, and movement disorders. Current treatment is primarily symptom-based and informed by experience in caring for this population.
Methods: We describe medication and non-medication approaches to treatment of epilepsy and additional key neurologic symptoms (sleep disturbances, behavioral issues, movement disorders, and swallowing dysfunction) in a cohort of 177 individuals meeting criteria for CDD, 154 evaluated at 4 CDKL5 Centers of Excellence in the USA and 40 identified through the NIH Natural History Study of Rett and Related Disorders. Read More