This prospective natural history study is being conducted to define the electroclinical, neurodevelopmental, and behavioral characteristics of CNKSR2 epilepsy aphasia syndrome (EAS) and intellectual disability (ID) in children aged 6 to 21 years old with CNKSR2 mutations. The data collected from this study will serve as an external control to eventual clinical trials examining precision medicine investigational therapeutics that aim to improve the seizure burden and neurodevelopmental outcomes in patients with CNKSR2 EAS/ID.
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Change from baseline in functional connectivity within the epileptiform network using resting-state functional magnetic resonance imaging (fMRI).
Timeframe: Baseline, Month 12, Month 24
Change from baseline in functional connectivity within the language network using resting-state functional magnetic resonance imaging (fMRI).
Timeframe: Baseline, Month 12, Month 24
Change from baseline in cortical evoked response to self-produced speech as measured by voxel-wise source reconstructed brain activation using magnetoencephalography (MEG).
Timeframe: Baseline, Month 12, Month 24
Change from baseline in cortical evoked response to altered auditory feedback during self-produced speech as measured by voxel-wise source reconstructed brain activation using magnetoencephalography (MEG).
Timeframe: Baseline, Month 12, Month 24
Change from baseline in resting state brain activity as measured by voxel-wise source reconstructed brain activation using magnetoencephalography (MEG).
Timeframe: Baseline, Month 12, Month 24
Change from baseline in resting state background brain activity during sleep as measured by phase lag index using electroencephalography (EEG).
Timeframe: Baseline, Month 12, Month 24
Change from baseline in spike-wave index during sleep as measured by percentage using electroencephalography (EEG).
Timeframe: Baseline, Month 12, Month 24
Change from baseline in neurodevelopmental status as measured by Bayley Scales of Infant and Toddler Development, 3rd Edition (BSID-III) scaled scores.
Timeframe: Baseline, Month 12, Month 24
Change from baseline in neurodevelopmental status as measured by the Bayley Scales of Infant and Toddler Development, 3rd Edition (BSID-III) standard scores.
Timeframe: Baseline, Month 12, Month 24
Change from baseline in neurodevelopmental status as measured by the Wechsler Preschool and Primary Scale of Intelligence, 4th Edition (WPPSI-IV) composite scores.
Timeframe: Baseline, Month 12, Month 24
Change from baseline in neurodevelopmental status as measured by the Wechsler Preschool and Primary Scale of Intelligence, 4th Edition (WPPSI-IV) scaled scores.
Timeframe: Baseline, Month 12, Month 24
Change from baseline in neurodevelopmental status as measured by the Wechsler Abbreviated Scale of Intelligence, 2nd Edition (WASI-II) composite scores.
Timeframe: Baseline, Month 12, Month 24
Change from baseline in neurodevelopmental status as measured by the Wechsler Abbreviated Scale of Intelligence, 2nd Edition (WASI-II) T-scores.
Timeframe: Baseline, Month 12, Month 24
Change from baseline in neurodevelopmental status as measured by Parent Report Form of Vineland Adaptive Behavior Scales, 3rd Edition (Vineland-3) Adaptive Behavior Composite score and Domain scores.
Timeframe: Baseline, Month 12, Month 24
Change from baseline in neurodevelopmental status as measured by Parent Report Form of Vineland Adaptive Behavior Scales, 3rd Edition (Vineland-3) V-Scale Scores.
Timeframe: Baseline, Month 12, Month 24
Change from baseline in performance on the Receptive One-Word Picture Vocabulary Test, 4th Edition standard scores.
Timeframe: Baseline, Month 12, Month 24
Change from baseline in performance on the Expressive One-Word Picture Vocabulary Test, 4th Edition standard scores.
Timeframe: Baseline, Month 12, Month 24
Change from baseline in ADHD Rating Scale, 4th Edition (ADHD-RS-IV) inattention subscale raw scores.
Timeframe: Baseline, Month 6, Month 12, Month 18, Month 24
Change in hyperactivity as measured by ADHD Rating Scale, 4th Edition (ADHD-RS-IV) hyperactivity subscale raw scores.
Timeframe: Baseline, Month 6, Month 12, Month 18, Month 24
Change in physical functioning as measured by Pediatric Quality of Life Inventory (PedsQL) scale scores.
Timeframe: Baseline, Month 6, Month 12, Month 18, Month 24
Change in emotional functioning as measured by Pediatric Quality of Life Inventory (PedsQL) scale scores.
Timeframe: Baseline, Month 6, Month 12, Month 18, Month 24
Change in social functioning as measured by Pediatric Quality of Life Inventory (PedsQL) scale scores.
Timeframe: Baseline, Month 6, Month 12, Month 18, Month 24
Change in school functioning as measured by Pediatric Quality of Life Inventory (PedsQL) scale scores.
Timeframe: Baseline, Month 6, Month 12, Month 18, Month 24