Phase 0 non-interventional longitudinal study of children and adults with Developmental and Epileptic Encephalopathy (DEE) due to a genetic cause. There are six arms of the study. Arms 1, 2, and 3 are devoted to one example DEE, MEF2C Haploinsufficiency Syndrome (MCHS). Arms 4, 5, and 6 are open to all DEE. Arm 1 (in-person) will enroll children 0 to 15, who will make in-person visits to Weill Cornell Medicine four times over two years. Arm 2 (virtual) will enroll people of all ages and older who will make virtual visits over Weill Cornell Zoom to Weill Cornell Medicine over two years (2 if 16 and older; 4 if 0 to 15). Arm 3 (registry) will enroll people of all ages in an online-only survey. Arms 4 - 6 mirror this structure but they are open to all children with DEE. Arm 4 (in-person) will enroll children of any age, who will make in-person visits every 6 months for 10 years. Arm 5 (virtual) will enroll children of any age for virtual visits, twice a year of 0 to 15, once a year if 16 or older. Arm 6 (registry) will enroll people of all ages in an online only survey.
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Change in Bayley Scales of Infant and Toddler Development (Fourth Edition)
Timeframe: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years
Change in Observer-Reported Communication Ability (ORCA)
Timeframe: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years
Change in Peabody Developmental Motor Scales 3 (PDMS-3)
Timeframe: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years
Change in Pediatric Epilepsy Learning Healthcare System (PELHS)
Timeframe: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years
Change in QI-Disability
Timeframe: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years
Change in Children's Sleep Habits Questionnaire (CSHQ)
Timeframe: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years
Change in Childhood Autism Rating Scale-2 (CARS-2)
Timeframe: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years
Change in Vineland Adaptive Behavior Scales (Third Edition)
Timeframe: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years
Change in Communication Function Classification System (CFCS)
Timeframe: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years
Change in Alberta Infant Motor Scale (AIMS)
Timeframe: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years
Change in Gross Motor Function Measure-88 (GMFM-88)
Timeframe: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years
Change in Gross Motor Function Classification System (GMFCS)
Timeframe: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years
Change in Manual Ability Classification System (MACS)
Timeframe: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years
Change in WHO Motor Milestones
Timeframe: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years
Change in Seizure Diaries
Timeframe: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years
Change in Pediatric Epilepsy Learning Healthcare System Quality of Life (PELHS-QOL-2)
Timeframe: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years
Change in Pediatric Sleep Questionnaire (PSQ)
Timeframe: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years
Change in Aberrant Behavior Checklist (ABC)
Timeframe: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years
Change in Seizure Diaries
Timeframe: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years
Change in Mullen Scales of Early Learning
Timeframe: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years
Change in (DAYC-2) Developmental Assessment of Young Children, Second Edition
Timeframe: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years
Change in Children's Sleep Habits Questionnaire (CSHQ)
Timeframe: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years
Change in Childhood Autism Rating Scale-2 (CARS-2)
Timeframe: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years
Change in Pediatric Epilepsy Learning Healthcare System (PELHS)
Timeframe: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years
Change in Aberrant Behavior Checklist (ABC)
Timeframe: at baseline, in 6 months, in 1 year, in 1.5 years, and in 2 years