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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.
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| Measure | Description | Time Frame |
|---|---|---|
| Change from baseline in functional connectivity within the epileptiform network using resting-state functional magnetic resonance imaging (fMRI). | Functional connectivity is unitless. | Baseline, Month 12, Month 24 |
| Change from baseline in functional connectivity within the language network using resting-state functional magnetic resonance imaging (fMRI). | Functional connectivity is unitless. | 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). | Voxel-wise source reconstructed brain activation assesses localized brain function by mapping neural activity at the voxel level. It is a unitless measure. | 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). | Voxel-wise source reconstructed brain activation assesses localized brain function by mapping neural activity at the voxel level. It is a unitless measure. | 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). | Voxel-wise source reconstructed brain activation assesses localized brain function by mapping neural activity at the voxel level. It is a unitless measure. | 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). |
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Inclusion Criteria:
Exclusion Criteria:
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Children with CNKSR2 pathogenic mutation and characteristic features of CNKSR2 neurodevelopmental disorder and/or epilepsy
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Alex Fay, MD, PhD | Contact | 415-353-7596 | alexander.fay@ucsf.edu | |
| Maya Dhar, MS | Contact | 415-353-9465 | maya.dhar@ucsf.edu |
| Name | Affiliation | Role |
|---|---|---|
| Alex Fay, MD, PhD | alexander.fay@ucsf.edu | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of California, San Francisco (UCSF) | Recruiting | San Francisco | California | 94158 | United States |
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| ID | Term |
|---|---|
| D038901 | X-Linked Intellectual Disability |
| D004827 | Epilepsy |
| D007806 | Language Disorders |
| ID | Term |
|---|---|
| D008607 | Intellectual Disability |
| D019954 | Neurobehavioral Manifestations |
| D009461 | Neurologic Manifestations |
| D009422 | Nervous System Diseases |
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Phase lag index ranges between 0 and 1 and is unitless. A phase lag index of zero indicates either no coupling or coupling with a phase difference centered around 0 mod π. |
| Baseline, Month 12, Month 24 |
| Change from baseline in spike-wave index during sleep as measured by percentage using electroencephalography (EEG). | Spike-wave index is the sum of all spike and slow wave minutes multiplied by 100 and divided by the total non-rapid eye movement sleep minutes. | 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. | Higher scores indicate a better outcome (minimum score: 1, maximum score: 19). | 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. | Higher scores indicate a better outcome (minimum score: 45, maximum score: 155). | 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. | Higher scores indicate a better outcome (minimum score: 40, maximum score: 160). | 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. | Higher scores indicate a better outcome (minimum score: 1, maximum score: 19). | 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. | Higher scores indicate a better outcome (minimum score: 40, maximum score: 160). | 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. | Higher scores indicate a better outcome (minimum score: 20, maximum score: 80). | 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. | Higher scores indicate a better outcome (minimum score: 20, maximum score: 140). | 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. | Higher scores indicate a better outcome (minimum score: 1, maximum score: 24). | Baseline, Month 12, Month 24 |
| Change from baseline in performance on the Receptive One-Word Picture Vocabulary Test, 4th Edition standard scores. | Higher scores indicate a better outcome (minimum score: < 55, maximum score: > 165). | Baseline, Month 12, Month 24 |
| Change from baseline in performance on the Expressive One-Word Picture Vocabulary Test, 4th Edition standard scores. | Higher scores indicate a better outcome (minimum score: < 55, maximum score: > 165). | Baseline, Month 12, Month 24 |
| Change from baseline in ADHD Rating Scale, 4th Edition (ADHD-RS-IV) inattention subscale raw scores. | Lower scores indicate a better outcome (minimum score: 0, maximum score: 9). | 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. | Lower scores indicate a better outcome (minimum score: 0, maximum score: 9). | Baseline, Month 6, Month 12, Month 18, Month 24 |
| Change in physical functioning as measured by Pediatric Quality of Life Inventory (PedsQL) scale scores. | Lower scores indicate a better outcome (minimum score: 0, maximum score: 100). | Baseline, Month 6, Month 12, Month 18, Month 24 |
| Change in emotional functioning as measured by Pediatric Quality of Life Inventory (PedsQL) scale scores. | Lower scores indicate a better outcome (minimum score: 0, maximum score: 100). | Baseline, Month 6, Month 12, Month 18, Month 24 |
| Change in social functioning as measured by Pediatric Quality of Life Inventory (PedsQL) scale scores. | Lower scores indicate a better outcome (minimum score: 0, maximum score: 100). | Baseline, Month 6, Month 12, Month 18, Month 24 |
| Change in school functioning as measured by Pediatric Quality of Life Inventory (PedsQL) scale scores. | Lower scores indicate a better outcome (minimum score: 0, maximum score: 100). | Baseline, Month 6, Month 12, Month 18, Month 24 |
| D040181 | Genetic Diseases, X-Linked |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D003147 | Communication Disorders |
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |