Observational, noninterventional, 3-year study to examine the presence of detectable differences in neurocognitive, developmental, motor, neurophysiologic, and quality of life measures over time in patients with cyclin-dependent kinase-like 5 deficiency disorder.
This is an observational study to examine the presence of detectable differences in neurocognitive, developmental, motor, neurophysiologic, and quality of life measures over time in approximately up to 100 patients aged birth to 55 years and diagnosed with cyclin-dependent kinase-like 5 deficiency disorder. Operational performance across age groups and languages will be assessed throughout the study, and Baseline cohort characteristics will be assessed throughout enrollment.
Study Type
OBSERVATIONAL
Enrollment
112
No intervention; observational
UCLA Mattel Children's Hospital
Los Angeles, California, United States
Bayley Scale of Infant and Toddler Development, Fourth Edition (BSID-4)
Suitability of this cognition and global development scale in CDD will be assessed based on the number of tests completed, ceiling/floor effect and variance estimate.
Time frame: Baseline
Vineland 3
Suitability of this adaptive behavior scale in CDD will be assessed based on the number of tests completed, ceiling/floor effect and variance estimate.
Time frame: Baseline
Gross Motor Function Measure (GMFM)
Suitability of this motor function scale in CDD will be assessed based on the number of tests completed, ceiling/floor effect and variance estimate.
Time frame: Baseline
Sleep Disturbance Scale for Children (SDSC)
Suitability of this sleep quality scale in CDD will be assessed based on the number of tests completed, ceiling/floor effect and variance estimate.
Time frame: Baseline
Changes in test results over time.
Time frame: 36 months
Correlations between age and test results.
Time frame: 36 months
Correlations between gender and test results.
Time frame: 36 months
Correlation between test results and seizure severity.
Time frame: 36 months
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