Authors :
Itay Tokatly Latzer, MD – Boston Children's Hospital
William Hong, MD – Boston Children's Hospital
Xiaoming Zhang, PhD – Pediatric Epilepsy Section, Epilepsy Center at the Cleveland Clinic Neurological Institute, Cleveland, OH, USA
Bo Zhang, PhD – Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA
Jenna Lucash, BA – Boston Children's Hospital
Elia Pestana Knight, MD – Cleveland Clinic
Presenting Author: Heather Olson, MD, MS – Boston Children's Hospital
Rationale:
Given the near-universal early onset epileptic encephalopathy in CDKL5 deficiency disorder (CDD), this study aimed to identify specific electroencephalography (EEG) and seizure-related patterns in CDD during the first two years of life and explore their interplay with other clinical and developmental outcomes.
Methods:
In a multicenter collaborative effort of Boston Children’s Hospital and Cleveland Clinic CDKL5 Centers of Excellence, 152 EEGs obtained from 48 infants and young children (aged 0-24 months) with CDD were rigorously reviewed. The analyzed data consisted of EEG background, interictal, and ictal parameters, scoring according to the Burden of AmplitudeS and Epileptiform Discharges (BASED) scale, as well as clinical seizure-related features, demographic details, and scores of a CDD-specific developmental scale.
Results:
Within the first two years of life, the EEG background severity in CDD gradually worsens, exhibiting a higher occurrence of various abnormalities, including discontinuity (p = 0.005) and generalized slowing (p≤0.001). Focal slowing, paroxysmal fast activity, and interictal epileptiform patterns were significantly more common in the parieto-occipital regions compared to the frontal, central, and temporal areas (p≤0.001). Hypsarrhythmia and high-severity BASED scores (suggestive of an epileptic encephalopathy) were also specific to older participants (p≤0.001), and the cutoff age with the highest discriminatory value for high-severity BASED scores was approximately 9 months (Youden index 0.58, specificity of 95%, sensitivity of 62%). Lower developmental scale Z-scores (indicating worse severity) were significantly correlated with higher BASED scores (R=-0.620, p< 0.001) and were specific to